James F. Gusella

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

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How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (2)

• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  2010 L1 No computation
• Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  2008 L1 70/100

1 assessed by us (0 reproduced) · 719 not yet assessed — every PubMed paper on record, linked below.

• In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease ↗

  Nature Genetics · 2025 · PMID 39843658
  not yet assessed
• Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects ↗

  Nature Genetics · 2025 · PMID 40490511
  not yet assessed
• Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease ↗

  Neurobiology of Aging · 2025 · PMID 40315540
  not yet assessed
• Genetic dissection of Huntington’s disease modification by variation at <i>RRM2B</i> ↗

  Human Molecular Genetics · 2025 · PMID 41092345
  not yet assessed
• CRISPR-engineered deletion of <i>POGZ</i> alters transcription factor binding at promoters of genes involved in synaptic signaling ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 41279137
  not yet assessed
• Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 40791503
  not yet assessed
• Aberrant recursive splicing in a human disease locus ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 40919386
  not yet assessed
• Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat ↗

  Nature Communications · 2024 · PMID 38609352
  not yet assessed
• Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly ↗

  The American Journal of Human Genetics · 2024 · PMID 39520989
  not yet assessed
• Modification of Huntington’s disease by short tandem repeats ↗

  Brain Communications · 2024 · PMID 38449714
  not yet assessed
• Posttranscriptional regulation of <i>FAN1</i> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease ↗

  Proceedings of the National Academy of Sciences · 2024 · PMID 38607933
  not yet assessed
• Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model ↗

  Human Molecular Genetics · 2024 · PMID 38776957
  not yet assessed
• Unlocking Brigatinib’s Potential: A Remarkable Case of Drug Repurposing in NF2-SWN ↗

  Pharmaceutical science. · 2024
  not yet assessed
• Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models ↗

  The American Journal of Human Genetics · 2024 · PMID 38458168
  not yet assessed
• Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024 · PMID 38948755
  not yet assessed
• Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024 · PMID 38895438
  not yet assessed
• Contributors ↗

  Elsevier eBooks · 2024
  not yet assessed
• Huntington's disease genetics: Implications for pathogenesis ↗

  Elsevier eBooks · 2024
  not yet assessed
• C005 Identification of genetic modifiers of HTT CAG repeat somatic expansion in blood: a genome-wide association study in a large cohort of Huntington disease expansion-carriers ↗

  2024
  not yet assessed
• C014 The influence of rs3512 on miR-124–3p mediated regulation of FAN1 expression ↗

  2024
  not yet assessed
• A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes ↗

  Proceedings of the National Academy of Sciences · 2023 · PMID 37043533
  not yet assessed
• Haplotype-specific <i>MAPK3</i> expression in 16p11.2 deletion contributes to variable neurodevelopment ↗

  Brain · 2023 · PMID 36869767
  not yet assessed
• Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries ↗

  Cell Reports Methods · 2023 · PMID 38091988
  not yet assessed
• P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* ↗

  Genetics in Medicine Open · 2023
  not yet assessed
• <i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023 · PMID 37547003
  not yet assessed
• Evidence for glutamate excitotoxicity that occurs before the onset of striatal cell loss and motor symptoms in an ovine Huntington’s Disease model ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* ↗

  Genetics in Medicine Open · 2023
  not yet assessed
• Supplementary Figure 1 from Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ↗

  2023
  not yet assessed
• Supplementary Figure 1 from Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ↗

  2023
  not yet assessed
• Evidence for glutamate excitotoxicity that occurs before the onset of cell loss and motor symptoms in an ovine Huntington's Disease model. ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2023
  not yet assessed
• Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• Data from Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ↗

  2023
  not yet assessed
• Data from Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ↗

  2023
  not yet assessed
• Sheep models of Alzheimer's Disease

  ResearchSpace (University of Auckland) · 2023
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Cell · 2022 · PMID 35917817
  not yet assessed
• Genetic modifiers of Huntington disease differentially influence motor and cognitive domains ↗

  The American Journal of Human Genetics · 2022 · PMID 35325614
  not yet assessed
• Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset ↗

  Nature Neuroscience · 2022 · PMID 35379994
  not yet assessed
• Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models ↗

  The American Journal of Human Genetics · 2022 · PMID 36152629
  not yet assessed
• Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models ↗

  The American Journal of Human Genetics · 2022 · PMID 36283406
  not yet assessed
• Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder ↗

  Nature Communications · 2022 · PMID 35688811
  not yet assessed
• <i>CHD8</i> suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing ↗

  Nucleic Acids Research · 2022 · PMID 36537238
  not yet assessed
• Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 ↗

  npj Genomic Medicine · 2022 · PMID 36064847
  not yet assessed
• Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration ↗

  The American Journal of Human Genetics · 2022 · PMID 35803234
  not yet assessed
• Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders ↗

  medRxiv · 2022
  not yet assessed
• Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of <i>MAPK3</i> and its contribution to variable NDD phenotypes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains ↗

  medRxiv · 2022
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Transcriptional and functional consequences of alterations to <i>MEF2C</i> and its topological organization in neuronal models ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease ↗

  Neurology · 2021 · PMID 33766994
  not yet assessed
• Huntington’s Disease Pathogenesis: Two Sequential Components ↗

  Journal of Huntington s Disease · 2021 · PMID 33579862
  not yet assessed
• 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro ↗

  Nature Communications · 2021 · PMID 34006844
  not yet assessed
• Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK ↗

  PLoS ONE · 2021 · PMID 34264955
  not yet assessed
• Huntington’s disease: nearly four decades of human molecular genetics ↗

  Human Molecular Genetics · 2021 · PMID 34169318
  not yet assessed
• Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs ↗

  Human Molecular Genetics · 2021 · PMID 33432339
  not yet assessed
• CNV profiles of Chinese pediatric patients with developmental disorders ↗

  Genetics in Medicine · 2021 · PMID 33402738
  not yet assessed
• Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin ↗

  The American Journal of Human Genetics · 2021 · PMID 34672987
  not yet assessed
• A Multi-Omic Huntington’s Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis ↗

  Journal of Huntington s Disease · 2021 · PMID 34420978
  not yet assessed
• Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington’s Disease ↗

  Journal of Huntington s Disease · 2021 · PMID 34180418
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  medRxiv · 2021
  not yet assessed
• FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in <i>TCERG1</i> ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Dystonia-specific mutations in <i>THAP1</i> alter transcription of genes associated with neurodevelopment and myelin ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• C04 Protein coding tandem repeat in TCERG1 modifies huntington’s disease onset ↗

  2021
  not yet assessed
• Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out ↗

  Human Molecular Genetics · 2020 · PMID 32876667
  not yet assessed
• Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects ↗

  The American Journal of Human Genetics · 2020 · PMID 32589923
  not yet assessed
• De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth ↗

  Human Genetics · 2020 · PMID 31980904
  not yet assessed
• Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons ↗

  Molecular Autism · 2020 · PMID 32503625
  not yet assessed
• mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition ↗

  Journal of Biological Chemistry · 2020 · PMID 33273014
  not yet assessed
• CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids ↗

  UNC Libraries · 2020
  not yet assessed
• Implication of LRRC4C and DPP6 in neurodevelopmental disorders ↗

  UNC Libraries · 2020
  not yet assessed
• Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease ↗

  ORCA Online Research @Cardiff (Cardiff University) · 2020
  not yet assessed
• <i>CHD8</i> Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism ↗

  Research Square · 2020
  not yet assessed
• Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders

  Ghent University Academic Bibliography (Ghent University) · 2020
  not yet assessed
• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗

  UNC Libraries · 2020
  not yet assessed
• Mosaic copy number variation in schizophrenia ↗

  UNC Libraries · 2020
  not yet assessed
• Prevalence of Incompletely Penetrant Huntington's Disease Alleles Among Individuals With Major Depressive Disorder ↗

  UNC Libraries · 2020
  not yet assessed
• Additional file 1 of Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons ↗

  Figshare · 2020
  not yet assessed
• Additional file 2 of Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons ↗

  Figshare · 2020
  not yet assessed
• CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset ↗

  Cell · 2019 · PMID 31398342
  not yet assessed
• Bioenergetic deficits in Huntington’s disease iPSC-derived neural cells and rescue with glycolytic metabolites ↗

  Human Molecular Genetics · 2019 · PMID 30768179
  not yet assessed
• Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease ↗

  Biological Psychiatry · 2019 · PMID 32087949
  not yet assessed
• A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator ↗

  The Journal of Clinical Endocrinology & Metabolism · 2019 · PMID 31628846
  not yet assessed
• Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA ↗

  Journal of Human Genetics · 2019 · PMID 31296921
  not yet assessed
• Hypomorphic mutation of the mouse Huntington’s disease gene orthologue ↗

  PLoS Genetics · 2019 · PMID 30897080
  not yet assessed
• A rare case of acquired immunodeficiency associated with myelodysplastic syndrome ↗

  Molecular Genetics & Genomic Medicine · 2019 · PMID 31503426
  not yet assessed
• Huntington’s disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• SA21EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS ↗

  European Neuropsychopharmacology · 2019
  not yet assessed
• A novel approach to investigate tissue-specific trinucleotide repeat instability ↗

  UNC Libraries · 2019
  not yet assessed
• Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma ↗

  Cell Reports · 2018 · PMID 29996106
  not yet assessed
• Population-specific genetic modification of Huntington's disease in Venezuela ↗

  PLoS Genetics · 2018 · PMID 29750799
  not yet assessed
• EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma ↗

  Neuro-Oncology · 2018 · PMID 29982664
  not yet assessed
• Pain correlates with germline mutation in schwannomatosis ↗

  Medicine · 2018 · PMID 29384852
  not yet assessed
• Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2 ↗

  PLoS ONE · 2018 · PMID 29897904
  not yet assessed
• Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase ↗

  The American Journal of Human Genetics · 2018 · PMID 30122542
  not yet assessed
• A rare exonic <i>NRXN3</i> deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2018 · PMID 30076746
  not yet assessed
• LZTR1 mutations associated with greater pain among patients with schwannomatosis (P6.142) ↗

  Neurology · 2018
  not yet assessed
• Hypomorphic mutation of the mouse Huntington’s disease gene orthologue ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• CSIG-42. HIGH THROUGHPUT KINOME AND TRANSCRIPTOME ANALYSES REVEAL NOVEL THERAPEUTIC TARGETS IN NF2-DEFICIENT MENINGIOMA ↗

  Neuro-Oncology · 2018
  not yet assessed
• C10 Shared genetic liability between neuropsychiatric disorders and psychiatric symptoms in hd ↗

  2018
  not yet assessed
• Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice ↗

  Nature Neuroscience · 2017 · PMID 28319609
  not yet assessed
• Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts ↗

  The Lancet Neurology · 2017 · PMID 28629879
  not yet assessed
• Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia ↗

  Journal of Neuroscience · 2017 · PMID 28912154
  not yet assessed
• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗

  Nature Genetics · 2017 · PMID 28067909
  not yet assessed
• Motor, cognitive, and functional declines contribute to a single progressive factor in early HD ↗

  Neurology · 2017 · PMID 29142089
  not yet assessed
• A modifier of Huntington's disease onset at the MLH1 locus ↗

  Human Molecular Genetics · 2017 · PMID 28934397
  not yet assessed
• Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases ↗

  Proceedings of the National Academy of Sciences · 2017 · PMID 29229845
  not yet assessed
• WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 ↗

  Complex Psychiatry · 2017 · PMID 28879201
  not yet assessed
• High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington’s disease CAG knock-in mice across multiple genetic backgrounds ↗

  Human Molecular Genetics · 2017 · PMID 28334820
  not yet assessed
• The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ↗

  The American Journal of Human Genetics · 2017 · PMID 28965845
  not yet assessed
• Haplotype-based stratification of Huntington's disease ↗

  European Journal of Human Genetics · 2017 · PMID 28832564
  not yet assessed
• Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels ↗

  Human Molecular Genetics · 2017 · PMID 28165127
  not yet assessed
• Potential molecular consequences of transgene integration: The R6/2 mouse example ↗

  Scientific Reports · 2017 · PMID 28120936
  not yet assessed
• A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome ↗

  Scientific Reports · 2017 · PMID 28333167
  not yet assessed
• A novel microduplication of <i>ARID1B</i>: Clinical, genetic, and proteomic findings ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28691782
  not yet assessed
• Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗

  Nature Genetics · 2017
  not yet assessed
• 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling 1 ↗

  The American Journal of Human Genetics · 2017 · PMID 28257685
  not yet assessed
• Genotype Does Not Correlate with Internal Whole Body Tumor Burden in Neurofibromatosis I (NF1) (P3.149) ↗

  Neurology · 2017
  not yet assessed
• Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

  2017
  not yet assessed
• Neurofibromatosis 2 ↗

  2017
  not yet assessed
• Cover Image, Volume 173A, Number 2, February 2017 ↗

  American Journal of Medical Genetics Part A · 2017
  not yet assessed
• Supplementary Material for: WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 ↗

  Figshare · 2017
  not yet assessed
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ↗

  Nature Genetics · 2016 · PMID 27841880
  not yet assessed
• Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9 ↗

  Human Molecular Genetics · 2016 · PMID 28172889
  not yet assessed
• The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease ↗

  The American Journal of Human Genetics · 2016 · PMID 26849111
  not yet assessed
• Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ↗

  Molecular Psychiatry · 2016 · PMID 27240531
  not yet assessed
• Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR ↗

  Nature Neuroscience · 2016 · PMID 26829649
  not yet assessed
• Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis ↗

  The American Journal of Human Genetics · 2016 · PMID 27745839
  not yet assessed
• <i>CSF1R</i>mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids ↗

  Brain · 2016 · PMID 27190017
  not yet assessed
• Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis ↗

  Human Molecular Genetics · 2016 · PMID 26758871
  not yet assessed
• Rare Deleterious<i>PARD3</i>Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation ↗

  Human Mutation · 2016 · PMID 27925688
  not yet assessed
• A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene ↗

  European Journal of Human Genetics · 2016 · PMID 27329733
  not yet assessed
• Metabolic disruption identified in the Huntington’s disease transgenic sheep model ↗

  Scientific Reports · 2016 · PMID 26864449
  not yet assessed
• Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27759917
  not yet assessed
• Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice ↗

  Nature Biotechnology · 2016 · PMID 27376585
  not yet assessed
• Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars ↗

  Neurodegenerative Diseases · 2016 · PMID 26959244
  not yet assessed
• Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay ↗

  European Journal of Human Genetics · 2016 · PMID 27381092
  not yet assessed
• Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression ↗

  PLoS ONE · 2016
  not yet assessed
• Erratum: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene ↗

  European Journal of Human Genetics · 2016
  not yet assessed
• NIMG-64. NOVEL METHODS FOR GENOTYPE-PHENOTYPE CORRELATION IN SCHWANNOMATOSIS ↗

  Neuro-Oncology · 2016
  not yet assessed
• Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies

  Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · 2016
  not yet assessed
• Huntington disease ↗

  Nature Reviews Disease Primers · 2015 · PMID 27188817
  not yet assessed
• Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease ↗

  Cell · 2015 · PMID 26232222
  not yet assessed
• RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression ↗

  PLoS ONE · 2015 · PMID 26636579
  not yet assessed
• miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement ↗

  BMC Medical Genomics · 2015 · PMID 25889241
  not yet assessed
• MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus ↗

  Human Molecular Genetics · 2015 · PMID 25574029
  not yet assessed
• Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation ↗

  The American Journal of Human Genetics · 2015 · PMID 26094575
  not yet assessed
• A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology ↗

  The American Journal of Human Genetics · 2015 · PMID 25937446
  not yet assessed
• Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation ↗

  Human Molecular Genetics · 2015 · PMID 25574027
  not yet assessed
• A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas ↗

  Oncotarget · 2015 · PMID 26219339
  not yet assessed
• Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS) ↗

  JAMA Neurology · 2015 · PMID 26569098
  not yet assessed
• The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington’s Disease ↗

  Journal of Huntington s Disease · 2015 · PMID 26444025
  not yet assessed
• A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in <i>GDF6</i> That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal ↗

  Journal of Bone and Mineral Research · 2015 · PMID 26643732
  not yet assessed
• Sequence-Level Analysis of the Major European Huntington Disease Haplotype ↗

  The American Journal of Human Genetics · 2015 · PMID 26320893
  not yet assessed
• Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency ↗

  PLoS ONE · 2015 · PMID 26445504
  not yet assessed
• Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency ↗

  The Journal of Clinical Endocrinology & Metabolism · 2015 · PMID 26207952
  not yet assessed
• Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder ↗

  Bipolar Disorders · 2015 · PMID 25726852
  not yet assessed
• Heritability of Risk for Sudden Cardiac Arrest in ESRD ↗

  Journal of the American Society of Nephrology · 2015 · PMID 25882830
  not yet assessed
• Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · PMID 25656686
  not yet assessed
• Abstract 91 ↗

  Plastic & Reconstructive Surgery · 2015
  not yet assessed
• Abstract 74 ↗

  Plastic & Reconstructive Surgery · 2015
  not yet assessed
• Neurofibromatosis 2 ↗

  2015
  not yet assessed
• Kinome Screen Reveals SGK1 as a Therapeutic Target for NF2: Inhibition of mTORC1/2 is More Effective than Rapamycin ↗

  The FASEB Journal · 2015
  not yet assessed
• <i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors ↗

  Proceedings of the National Academy of Sciences · 2014 · PMID 25294932
  not yet assessed
• Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families ↗

  The American Journal of Human Genetics · 2014 · PMID 24906019
  not yet assessed
• Genetic modifiers of Huntington's disease ↗

  Movement Disorders · 2014 · PMID 25154728
  not yet assessed
• MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis ↗

  PLoS Genetics · 2014 · PMID 24586208
  not yet assessed
• Autism Spectrum Disorder Genetics ↗

  Harvard Review of Psychiatry · 2014 · PMID 24614762
  not yet assessed
• Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency ↗

  Proceedings of the National Academy of Sciences · 2014 · PMID 25472840
  not yet assessed
• Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature ↗

  The American Journal of Human Genetics · 2014 · PMID 24746958
  not yet assessed
• Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders ↗

  The American Journal of Human Genetics · 2014 · PMID 25279985
  not yet assessed
• The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development ↗

  Human Molecular Genetics · 2014 · PMID 25168387
  not yet assessed
• Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

  PMC · 2014
  not yet assessed
• Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum ↗

  Journal of Huntington s Disease · 2014 · PMID 25300330
  not yet assessed
• HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes ↗

  PLoS ONE · 2014 · PMID 24751919
  not yet assessed
• E01 CAG Repeat Length Predicts Rate of Striatal Atrophy, but Relationship is Nonlinear ↗

  Journal of Neurology Neurosurgery & Psychiatry · 2014
  not yet assessed
• Genetic and Functional Heterogeneity of Tumors in Neurofibromatosis 2 ↗

  2014
  not yet assessed
• Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus ↗

  The American Journal of Human Genetics · 2013 · PMID 23332918
  not yet assessed
• Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders ↗

  Human Molecular Genetics · 2013 · PMID 23376982
  not yet assessed
• Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway ↗

  Human Molecular Genetics · 2013 · PMID 24271013
  not yet assessed
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder ↗

  European Journal of Human Genetics · 2013 · PMID 23632792
  not yet assessed
• Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities ↗

  Molecular Psychiatry · 2013 · PMID 23587880
  not yet assessed
• Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate ↗

  Human Genetics · 2013 · PMID 23354975
  not yet assessed
• Further Molecular Characterisation of the OVT73 Transgenic Sheep Model of Huntington's Disease Identifies Cortical Aggregates ↗

  Journal of Huntington s Disease · 2013 · PMID 25062676
  not yet assessed
• Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects ↗

  PLoS ONE · 2013 · PMID 23349908
  not yet assessed
• Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy ↗

  Human Molecular Genetics · 2013 · PMID 23595883
  not yet assessed
• Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder ↗

  Molecular Autism · 2013 · PMID 23514105
  not yet assessed
• Mosaic copy number variation in schizophrenia ↗

  European Journal of Human Genetics · 2013 · PMID 23321615
  not yet assessed
• Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset ↗

  Neurogenetics · 2013 · PMID 23644918
  not yet assessed
• Mosaic copy number variation in schizophrenia. ↗

  Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2013
  not yet assessed
• Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries ↗

  Cell · 2012 · PMID 22521361
  not yet assessed
• KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant ↗

  Nature · 2012 · PMID 22596160
  not yet assessed
• CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion ↗

  Neurology · 2012 · PMID 22323755
  not yet assessed
• Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration ↗

  Nature Genetics · 2012 · PMID 22388000
  not yet assessed
• Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample ↗

  New England Journal of Medicine · 2012 · PMID 23215558
  not yet assessed
• An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin ↗

  Nature Neuroscience · 2012 · PMID 22466506
  not yet assessed
• Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types ↗

  Molecular Cancer Research · 2012 · PMID 22426462
  not yet assessed
• Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region ↗

  The American Journal of Human Genetics · 2012 · PMID 22387017
  not yet assessed
• Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features ↗

  Human Mutation · 2012 · PMID 22290657
  not yet assessed
• Role of common and rare <i>APP</i> DNA sequence variants in Alzheimer disease ↗

  Neurology · 2012 · PMID 22491860
  not yet assessed
• Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies ↗

  The American Journal of Human Genetics · 2012 · PMID 22770980
  not yet assessed
• Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities ↗

  The American Journal of Human Genetics · 2012 · PMID 23217328
  not yet assessed
• Expression of SMARCB1 (INI1) mutations in familial schwannomatosis ↗

  Human Molecular Genetics · 2012 · PMID 22949514
  not yet assessed
• Assessment of cortical and striatal involvement in 523 Huntington disease brains ↗

  Neurology · 2012 · PMID 23035064
  not yet assessed
• An ancient founder mutation in PROKR2 impairs human reproduction ↗

  Human Molecular Genetics · 2012 · PMID 22773735
  not yet assessed
• Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset ↗

  Human Genetics · 2012 · PMID 22825315
  not yet assessed
• Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity ↗

  Archives of General Psychiatry · 2012 · PMID 23044507
  not yet assessed
• TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease ↗

  Biochemical and Biophysical Research Communications · 2012 · PMID 22771793
  not yet assessed
• Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients ↗

  Amyotrophic Lateral Sclerosis · 2012 · PMID 22409360
  not yet assessed
• CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion ↗

  Neurology · 2012
  not yet assessed
• Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes ↗

  Journal of Molecular Neuroscience · 2012 · PMID 23054586
  not yet assessed
• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ↗

  Nature · 2011 · PMID 21881559
  not yet assessed
• Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder ↗

  The American Journal of Human Genetics · 2011 · PMID 21981781
  not yet assessed
• Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research ↗

  The American Journal of Human Genetics · 2011 · PMID 21473983
  not yet assessed
• Expanding the Phenotype and Genotype of Female GnRH Deficiency ↗

  The Journal of Clinical Endocrinology & Metabolism · 2011 · PMID 21209029
  not yet assessed
• Copy Number Variation in Familial Parkinson Disease ↗

  PLoS ONE · 2011 · PMID 21829596
  not yet assessed
• HD CAG-correlated gene expression changes support a simple dominant gain of function ↗

  Human Molecular Genetics · 2011 · PMID 21536587
  not yet assessed
• The cell adhesion gene PVRL3 is associated with congenital ocular defects ↗

  Human Genetics · 2011 · PMID 21769484
  not yet assessed
• Deficiency of Huntingtin Has Pleiotropic Effects in the Social Amoeba Dictyostelium discoideum ↗

  PLoS Genetics · 2011 · PMID 21552328
  not yet assessed
• dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism ↗

  PLoS ONE · 2011 · PMID 22022556
  not yet assessed
• Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative ↗

  Human Molecular Genetics · 2011 · PMID 21840924
  not yet assessed
• Age- and gender-dependent obesity in individuals with 16p11.2 deletion ↗

  Journal of genetics and genomics/Journal of Genetics and Genomics · 2011 · PMID 21930099
  not yet assessed
• Genomewide linkage study of modifiers of <i>LRRK2</i>‐related Parkinson's disease ↗

  Movement Disorders · 2011 · PMID 21661047
  not yet assessed
• Expanding the Phenotype and Genotype of Female GnRH Deficiency ↗

  Endocrine Reviews · 2011
  not yet assessed
• Expanding the Phenotype and Genotype of Female GnRH Deficiency ↗

  Endocrinology · 2011
  not yet assessed
• Nuclear Pore Complex

  2011
  not yet assessed
• Correction: dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism ↗

  PLoS ONE · 2011
  not yet assessed
• Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests ↗

  Statistical Applications in Genetics and Molecular Biology · 2011
  not yet assessed
• Faculty Opinions recommendation of Repetitive transcranial magnetic stimulation enhances BDNF-TrkB signaling in both brain and lymphocyte. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2011
  not yet assessed
• Neurofibromatosis 2 ↗

  2011
  not yet assessed
• Clinical Genetic Testing for Patients With Autism Spectrum Disorders ↗

  PEDIATRICS · 2010 · PMID 20231187
  not yet assessed
• Oligogenic basis of isolated gonadotropin-releasing hormone deficiency ↗

  Proceedings of the National Academy of Sciences · 2010 · PMID 20696889
  not yet assessed
• Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · PMID 20468056
  not yet assessed
• An ovine transgenic Huntington's disease model ↗

  Human Molecular Genetics · 2010 · PMID 20154343
  not yet assessed
• A novel approach to investigate tissue-specific trinucleotide repeat instability ↗

  BMC Systems Biology · 2010 · PMID 20302627
  not yet assessed
• Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy ↗

  PLoS ONE · 2010 · PMID 21085603
  not yet assessed
• Prevalence of Incompletely Penetrant Huntington's Disease Alleles Among Individuals With Major Depressive Disorder ↗

  American Journal of Psychiatry · 2010 · PMID 20360314
  not yet assessed
• Meclizine is neuroprotective in models of Huntington's disease ↗

  Human Molecular Genetics · 2010 · PMID 20977989
  not yet assessed
• Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · PMID 21302351
  not yet assessed
• Monozygotic twins discordant for neurofibromatosis 1 ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 20186797
  not yet assessed
• Assessing Population Level Genetic Instability via Moving Average ↗

  Statistics in Biosciences · 2010 · PMID 22866169
  not yet assessed
• Association of the Long QT Syndrome With Goiter and Deafness ↗

  The American Journal of Cardiology · 2010 · PMID 20185017
  not yet assessed
• Poster 16: Genetic Approach to Huntington's Disease Therapeutics ↗

  Neurotherapeutics · 2010
  not yet assessed
• C03 Modifiers of instability and age at onset in HD: haplotype study in the Portuguese population ↗

  Journal of Neurology Neurosurgery & Psychiatry · 2010
  not yet assessed
• Faculty Opinions recommendation of Rare variants create synthetic genome-wide associations. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
  not yet assessed
• Faculty Opinions recommendation of Genetic analysis of variation in transcription factor binding in yeast. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
  not yet assessed
• NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth ↗

  Molecular and Cellular Biology · 2009 · PMID 19451225
  not yet assessed
• Downregulated MicroRNA-200a in Meningiomas Promotes Tumor Growth by Reducing E-Cadherin and Activating the Wnt/β-Catenin Signaling Pathway ↗

  Molecular and Cellular Biology · 2009 · PMID 19703993
  not yet assessed
• Huntingtin facilitates polycomb repressive complex 2 ↗

  Human Molecular Genetics · 2009 · PMID 19933700
  not yet assessed
• Genomewide association study for onset age in Parkinson disease ↗

  BMC Medical Genetics · 2009 · PMID 19772629
  not yet assessed
• Huntington's disease: the case for genetic modifiers ↗

  Genome Medicine · 2009 · PMID 19725930
  not yet assessed
• BDNF, relative preference, and reward circuitry responses to emotional communication ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2009 · PMID 19388013
  not yet assessed
• Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) ↗

  American Journal of Medical Genetics Part A · 2009 · PMID 19507258
  not yet assessed
• Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas ↗

  BMC Medical Genomics · 2009 · PMID 19589153
  not yet assessed
• Changing Models of Biomedical Research ↗

  Science Translational Medicine · 2009 · PMID 20368150
  not yet assessed
• Identification of a Novel Kindred with Familial Pancreatitis and Pancreatic Cancer ↗

  Pancreatology · 2009 · PMID 19407482
  not yet assessed
• Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide ↗

  The International Journal of Neuropsychopharmacology · 2009 · PMID 19887018
  not yet assessed
• Large-Scale Medical Resequencing for X-Linked Mental Retardation ↗

  Clinical Chemistry · 2009 · PMID 20040618
  not yet assessed
• The Genetic Research Cycle in Human Disease: The Huntington's Disease Paradigm ↗

  Journal of Medical Sciences · 2009
  not yet assessed
• Huntington’s Disease ↗

  Elsevier eBooks · 2009
  not yet assessed
• Genomewide association study for onset age in Parkinson disease

  Digital Access to Scholarship at Harvard (DASH) (Harvard University) · 2009
  not yet assessed
• Faculty Opinions recommendation of Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of The diploid genome sequence of an Asian individual. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Copy number variations in three children with sudden infant death. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Neurotransmitter receptor homologues of Dictyostelium discoideum. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Infection by tubercular mycobacteria is spread by nonlytic ejection from their amoeba hosts. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Faculty Opinions recommendation of Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2009
  not yet assessed
• Association between Microdeletion and Microduplication at 16p11.2 and Autism ↗

  New England Journal of Medicine · 2008 · PMID 18184952
  not yet assessed
• Association Between Microdeletion and Microduplication at 16p11.2 and Autism ↗

  Obstetrical & Gynecological Survey · 2008
  not yet assessed
• Disruption of Neurexin 1 Associated with Autism Spectrum Disorder ↗

  The American Journal of Human Genetics · 2008 · PMID 18179900
  not yet assessed
• X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment ↗

  Nature Genetics · 2008 · PMID 18469813
  not yet assessed
• Genomewide association study for susceptibility genes contributing to familial Parkinson disease ↗

  Human Genetics · 2008 · PMID 18985386
  not yet assessed
• Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders ↗

  Journal of Medical Genetics · 2008 · PMID 18805830
  not yet assessed
• Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

  The American Journal of Human Genetics · 2008 · PMID 18834967
  L1 70/100
• Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project ↗

  The American Journal of Human Genetics · 2008 · PMID 18319076
  not yet assessed
• Haplotypes and gene expression implicate the <i>MAPT</i> region for Parkinson disease ↗

  Neurology · 2008 · PMID 18509094
  not yet assessed
• The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study ↗

  BMC Medicine · 2008 · PMID 18986508
  not yet assessed
• Regional assignment of the erythropoietin gene to human chromosome region 7pter→q22 ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 2875851
  not yet assessed
• Replication of association between ELAVL4 and Parkinson disease: the GenePD study ↗

  Human Genetics · 2008 · PMID 18587682
  not yet assessed
• The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10 ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 3197452
  not yet assessed
• Patient and Physician Attitudes Regarding Clinical Trials in Neurofibromatosis 1 ↗

  Journal of Neuroscience Nursing · 2008 · PMID 19170300
  not yet assessed
• Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The <i>Gene</i>PD study ↗

  Movement Disorders · 2008 · PMID 18649400
  not yet assessed
• Molecular Genetics of Familial Alzheimer’s Disease ↗

  European Neurology · 2008 · PMID 2693103
  not yet assessed
• Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project ↗

  The American Journal of Human Genetics · 2008
  not yet assessed
• Report of the committee on the genetic constitution of chromosomes 3 and 4 ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 3864591
  not yet assessed
• Mapping of the DNA locus D4S10 and the linked Huntington’s disease gene to 4p16→p15 ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 2944714
  not yet assessed
• Report of the committee on the genetic constitution of chromosomes 3 and 4 ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 3507271
  not yet assessed
• Faculty Opinions recommendation of Culturing of human peripheral blood cells reveals unsuspected lymphocyte responses relevant to HIV disease. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2008
  not yet assessed
• Neurofibromatosis 2 ↗

  2008
  not yet assessed
• Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux ↗

  The American Journal of Human Genetics · 2007 · PMID 17357069
  not yet assessed
• Factors associated with <i>HD</i> CAG repeat instability in Huntington disease ↗

  Journal of Medical Genetics · 2007 · PMID 17660463
  not yet assessed
• NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects ↗

  PLoS Genetics · 2007 · PMID 17530927
  not yet assessed
• Unbiased Gene Expression Analysis Implicates the huntingtin Polyglutamine Tract in Extra-mitochondrial Energy Metabolism ↗

  PLoS Genetics · 2007 · PMID 17708681
  not yet assessed
• Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia ↗

  Journal of Molecular Medicine · 2007 · PMID 17206408
  not yet assessed
• A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect ↗

  Genomics · 2007 · PMID 17644305
  not yet assessed
• Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance ↗

  Clinical Chemistry · 2007 · PMID 17901113
  not yet assessed
• Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth ↗

  Neurobiology of Disease · 2007 · PMID 17962031
  not yet assessed
• Mediator Subunit MED28 (Magicin) Is a Repressor of Smooth Muscle Cell Differentiation ↗

  Journal of Biological Chemistry · 2007 · PMID 17848560
  not yet assessed
• Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice ↗

  The American Journal of Human Genetics · 2007 · PMID 17357084
  not yet assessed
• Disruption of a synaptotagmin (<i>SYT14</i>) associated with neurodevelopmental abnormalities ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17304550
  not yet assessed
• Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17937436
  not yet assessed
• Psychiatric Symptoms in Huntington's Disease before Diagnosis : The Predict-HD Study. Commentary

  Biological Psychiatry · 2007
  not yet assessed
• Expanding the Notion of Disease in Huntington’s Disease ↗

  Biological Psychiatry · 2007 · PMID 18054536
  not yet assessed
• Is the disruption of an N‐myristoyltransferase (<i>NMT2</i>) associated with hypoplastic testes? ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17568424
  not yet assessed
• Assessment of a CGH-based Genetic Instability

  Collection of Biostatistics Research Archive · 2007
  not yet assessed
• The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset ↗

  Annals of Human Genetics · 2006 · PMID 17181545
  not yet assessed
• Influence of Heterozygosity for Parkin Mutation on Onset Age in Familial Parkinson Disease ↗

  Archives of Neurology · 2006 · PMID 16769863
  not yet assessed
• Huntington's disease: seeing the pathogenic process through a genetic lens ↗

  Trends in Biochemical Sciences · 2006 · PMID 16829072
  not yet assessed
• Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate ↗

  The American Journal of Human Genetics · 2006 · PMID 16960808
  not yet assessed
• Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study ↗

  BMC Medical Genetics · 2006 · PMID 16914060
  not yet assessed
• Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation ↗

  Biochemical and Biophysical Research Communications · 2006 · PMID 16899217
  not yet assessed
• Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington’s disease ↗

  Neurobiology of Disease · 2006 · PMID 16962786
  not yet assessed
• Genetic analysis of the GRIK2modifier effect in Huntington's disease ↗

  BMC Neuroscience · 2006 · PMID 16959037
  not yet assessed
• Genetic criteria for Huntington's disease pathogenesis ↗

  Brain Research Bulletin · 2006 · PMID 17352930
  not yet assessed
• Candidate loci for Zimmermann–Laband syndrome at 3p14.3 ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 17163523
  not yet assessed
• Neurofibromatosis type 2 ↗

  2006
  not yet assessed
• Understanding the role of the merlin interacting protein magicin as part of the mammalian Mediator complex ↗

  The FASEB Journal · 2006
  not yet assessed
• Magicin (MED28), a Potential Adaptor Protein ↗

  The FASEB Journal · 2006
  not yet assessed
• Faculty Opinions recommendation of The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2006
  not yet assessed
• Neurofibromatosis 2 ↗

  2006
  not yet assessed
• Faculty Opinions recommendation of Sex-specific, male-line transgenerational responses in humans. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2006
  not yet assessed
• HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism ↗

  Human Molecular Genetics · 2005 · PMID 16115812
  not yet assessed
• Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3 ↗

  The American Journal of Human Genetics · 2005 · PMID 15871139
  not yet assessed
• Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation ↗

  BMC Neuroscience · 2005 · PMID 15649316
  not yet assessed
• Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma ↗

  Cancer Genetics and Cytogenetics · 2005 · PMID 16213361
  not yet assessed
• BDNF genetic variants are associated with onset age of familial Parkinson disease: <i>Gene</i> PD Study ↗

  Neurology · 2005 · PMID 16344533
  not yet assessed
• Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for <i>FGFR1</i> ↗

  Journal of Medical Genetics · 2005 · PMID 16061567
  not yet assessed
• The NF2 Tumor Suppressor Merlin and the ERM Proteins Interact with N-WASP and Regulate Its Actin Polymerization Function ↗

  Journal of Biological Chemistry · 2005 · PMID 15699051
  not yet assessed
• Absence of previously reported variants in the <i>SCNA</i> (G88C and G209A), <i>NR4A2</i> (T291D and T245G) and the <i>DJ</i>‐<i>1</i> (T497C) genes in familial Parkinson's disease from the <i>Gene</i>PD study ↗

  Movement Disorders · 2005 · PMID 15966003
  not yet assessed
• Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism ↗

  PLoS Genetics · 2005
  not yet assessed
• A Prospective Randomized Clinical Trial of Celecoxib for the Control of Symptomatic Plexiform Neurofibroma in Neurofibromatosis 1 ↗

  2005
  not yet assessed
• 0 Distinguished Lecturer Series Distinguished Lecturer Series Duke University Program in Genetics and Genomics

  2005
  not yet assessed
• <scp>H</scp> untington Disease ↗

  Encyclopedia of Cognitive Science · 2005
  not yet assessed
• The GPR54 Gene as a Regulator of Puberty ↗

  Obstetrical & Gynecological Survey · 2004
  not yet assessed
• Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: Additional evidence ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2004 · PMID 15211627
  not yet assessed
• Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2 ↗

  Oncogene · 2004 · PMID 15467741
  not yet assessed
• Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 ↗

  Neurogenetics · 2004 · PMID 15029481
  not yet assessed
• Modified Single-Stranded Oligonucleotides Inhibit Aggregate Formation and Toxicity Induced by Expanded Polyglutamine ↗

  Journal of Molecular Neuroscience · 2004 · PMID 15456939
  not yet assessed
• Faculty Opinions recommendation of Do the print media "hype" genetic research? A comparison of newspaper stories and peer-reviewed research papers. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2004
  not yet assessed
• Faculty Opinions recommendation of Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2004
  not yet assessed
• Faculty Opinions recommendation of Finding fusion genes resulting from chromosome rearrangement by analyzing the expressed sequence databases. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2004
  not yet assessed
• Faculty Opinions recommendation of Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2004
  not yet assessed
• The <i>GPR54</i> Gene as a Regulator of Puberty ↗

  New England Journal of Medicine · 2003 · PMID 14573733
  not yet assessed
• Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia ↗

  The American Journal of Human Genetics · 2003 · PMID 12577200
  not yet assessed
• Human Chromosome 7: DNA Sequence and Biology ↗

  Science · 2003 · PMID 12690205
  not yet assessed
• Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12784292
  not yet assessed
• A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study ↗

  The American Journal of Human Genetics · 2003 · PMID 12900792
  not yet assessed
• Huntington's Disease ↗

  NeuroMolecular Medicine · 2003 · PMID 14528049
  not yet assessed
• Identification of the first non‐Jewish mutation in familial Dysautonomia ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12687659
  not yet assessed
• A haplotype at the <i>PARK3</i> locus influences onset age for Parkinson’s disease ↗

  Neurology · 2003 · PMID 14663042
  not yet assessed
• Faculty Opinions recommendation of Problematic variation in local institutional review of a multicenter genetic epidemiology study. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2003
  not yet assessed
• Faculty of 1000 evaluation for Neural expression of the Huntington's disease gene as a chordate evolutionary novelty. ↗

  F1000 - Post-publication peer review of the biomedical literature · 2003
  not yet assessed
• Faculty Opinions recommendation of Toward a phylogenetic chronology of ancient Gaulish, Celtic, and Indo-European. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2003
  not yet assessed
• Faculty Opinions recommendation of Neural expression of the Huntington's disease gene as a chordate evolutionary novelty. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2003
  not yet assessed
• The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor ↗

  BMC Neuroscience · 2002 · PMID 12379151
  not yet assessed
• Familial dysautonomia ↗

  Current Opinion in Genetics & Development · 2002 · PMID 12076674
  not yet assessed
• PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study ↗

  The American Journal of Human Genetics · 2002 · PMID 11920285
  not yet assessed
• No post-genetics era in human disease research ↗

  Nature Reviews Genetics · 2002 · PMID 11823793
  not yet assessed
• Faculty Opinions recommendation of Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2002
  not yet assessed
• Faculty Opinions recommendation of Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2002
  not yet assessed
• Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia ↗

  The American Journal of Human Genetics · 2001 · PMID 11179008
  not yet assessed
• Cloning, Characterization, and Genomic Structure of the Mouse <i>Ikbkap</i> Gene ↗

  DNA and Cell Biology · 2001 · PMID 11747609
  not yet assessed
• Quantitative neuropathological changes in presymptomatic Huntington's disease ↗

  Annals of Neurology · 2001
  not yet assessed
• Genome-wide scan for Parkinson's disease ↗

  Neurology · 2001 · PMID 11571351
  not yet assessed
• Huntington Disease ↗

  Encyclopedia of Life Sciences · 2001
  not yet assessed
• Developmental Genome Anatomy Project Breakpoint localization updates

  2001
  not yet assessed
• Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease ↗

  Nature reviews. Neuroscience · 2000 · PMID 11252773
  not yet assessed
• A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. ↗

  PubMed · 2000 · PMID 10850424
  not yet assessed
• Advances in Neurofibromatosis 2 (NF2): A Workshop Report ↗

  Journal of Neurogenetics · 2000 · PMID 10992163
  not yet assessed
• Cloning, mapping, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31 ↗

  Mammalian Genome · 2000 · PMID 10603000
  not yet assessed
• Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington’s disease brain nuclei ↗

  Proceedings of the National Academy of Sciences · 1999 · PMID 10377424
  not yet assessed
• Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine Segment ↗

  Neurobiology of Disease · 1999 · PMID 10527804
  not yet assessed
• Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease ↗

  Neurology · 1999 · PMID 10522893
  not yet assessed
• Merlin: the neurofibromatosis 2 tumor suppressor ↗

  Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · 1999 · PMID 10214350
  not yet assessed
• Interdomain Interaction of Merlin Isoforms and Its Influence on Intermolecular Binding to NHE-RF ↗

  Journal of Biological Chemistry · 1999 · PMID 10567424
  not yet assessed
• Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31 ↗

  Genomics · 1999 · PMID 10373328
  not yet assessed
• Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31 ↗

  The American Journal of Human Genetics · 1999 · PMID 10090896
  not yet assessed
• Clonal Analysis of a Case of Multiple Meningiomas Using Multiple Molecular Genetic Approaches: Pathology Case Report ↗

  Neurosurgery · 1999 · PMID 10449091
  not yet assessed
• Mapping of a target region of allelic loss to a 0.5-cm interval on chromosome 22q13 in human colorectal cancer ↗

  Gastroenterology · 1999 · PMID 10500065
  not yet assessed
• Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis ↗

  Neurogenetics · 1999 · PMID 10369886
  not yet assessed
• NONAGENARIANS WITH HUNTINGTON DISEASE (HD) HAVE LOW CAG REPEATS ↗

  Journal of Neuropathology & Experimental Neurology · 1999
  not yet assessed
• The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane ↗

  Trends in Biochemical Sciences · 1998 · PMID 9757824
  not yet assessed
• A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. ↗

  PubMed · 1998 · PMID 9850057
  not yet assessed
• NHE-RF, a Regulatory Cofactor for Na+-H+Exchange, Is a Common Interactor for Merlin and ERM (MERM) Proteins ↗

  Journal of Biological Chemistry · 1998 · PMID 9430655
  not yet assessed
• The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. ↗

  PubMed · 1998 · PMID 9750906
  not yet assessed
• Loss of the NF2 Gene and Merlin Occur by the Tumorlet Stage of Schwannoma Development in Neurofibromatosis 2 ↗

  Journal of Neuropathology & Experimental Neurology · 1998 · PMID 9862639
  not yet assessed
• The NF2 gene and merlin protein in human osteosarcomas ↗

  Neurogenetics · 1998 · PMID 9933303
  not yet assessed
• Huntingtin: a single bait hooks many species ↗

  Current Opinion in Neurobiology · 1998 · PMID 9687360
  not yet assessed
• Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression ↗

  Somatic Cell and Molecular Genetics · 1998 · PMID 9919310
  not yet assessed
• Inflammatory bowel disease: Is it in the genes? ↗

  Gastroenterology · 1998 · PMID 9797387
  not yet assessed
• Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors ↗

  Genes & Development · 1998 · PMID 9553042
  not yet assessed
• Assignment&lt;footref rid="foot01"&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/footref&gt; of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR ↗

  Cytogenetic and Genome Research · 1998 · PMID 10072588
  not yet assessed
• Reply ↗

  Annals of Neurology · 1998
  not yet assessed
• The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein ↗

  Nature Genetics · 1997 · PMID 9288096
  not yet assessed
• CAG repeat number governs the development rate of pathology in Huntington's disease ↗

  Annals of Neurology · 1997 · PMID 9153534
  not yet assessed
• Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion ↗

  Nature Genetics · 1997 · PMID 9398841
  not yet assessed
• Rescue of a <i>Drosophila NF1</i> Mutant Phenotype by Protein Kinase A ↗

  Science · 1997 · PMID 9115203
  not yet assessed
• Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis ↗

  The American Journal of Human Genetics · 1997 · PMID 9399891
  not yet assessed
• Universal absence of merlin, but not other ERM family members, in schwannomas. ↗

  PubMed · 1997 · PMID 9403715
  not yet assessed
• Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative `tumor progression' locus ↗

  Oncogene · 1997 · PMID 9053860
  not yet assessed
• Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons ↗

  Experimental Neurology · 1997 · PMID 9168825
  not yet assessed
• The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts? ↗

  Molecular Medicine · 1997 · PMID 9131586
  not yet assessed
• The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. ↗

  Genes & Development · 1997 · PMID 9171370
  not yet assessed
• Fine Localization of the Torsion Dystonia Gene (<i>DYT1</i>) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium ↗

  Genome Research · 1997 · PMID 9149944
  not yet assessed
• Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3 ↗

  Somatic Cell and Molecular Genetics · 1997 · PMID 9661704
  not yet assessed
• ALZHEIMER DISEASE DOES NOT PROTECT THE NEOSTRIATUM IN COMBINED CASES OF HUNTINGTON (HD) AND ALZHEIMER DISEASE (AD) ↗

  Journal of Neuropathology & Experimental Neurology · 1997
  not yet assessed
• A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex ↗

  Nature Genetics · 1996 · PMID 8696344
  not yet assessed
• Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. ↗

  PubMed · 1996 · PMID 8751853
  not yet assessed
• Frequency and distribution ofNF2 mutations in schwannomas ↗

  Genes Chromosomes and Cancer · 1996 · PMID 8889506
  not yet assessed
• Characterization and Expression of the Human A2a Adenosine Receptor Gene ↗

  Journal of Neurochemistry · 1996 · PMID 8522976
  not yet assessed
• Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. ↗

  PubMed · 1996 · PMID 8940268
  not yet assessed
• The merlin tumor suppressor localizes preferentially in membrane ruffles. ↗

  PubMed · 1996 · PMID 8808698
  not yet assessed
• Huntington's disease: translating a CAG repeat into a pathogenic mechanism ↗

  Current Opinion in Neurobiology · 1996 · PMID 8937828
  not yet assessed
• Differential Expression of Normal and Mutant Huntington's Disease Gene Alleles ↗

  Neurobiology of Disease · 1996 · PMID 8980018
  not yet assessed
• TRINUCLEOTIDE INSTABILITY: A Repeating Theme in Human Inherited Disorders ↗

  Annual Review of Medicine · 1996 · PMID 8712774
  not yet assessed
• Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect ↗

  Neuromuscular Disorders · 1996 · PMID 8845715
  not yet assessed
• Neurofibromatosis 2: loss of merlin's protective spell ↗

  Current Opinion in Genetics & Development · 1996 · PMID 8791482
  not yet assessed
• Identification and Characterization of Two Novel Tetratricopeptide Repeat-Containing Genes ↗

  DNA and Cell Biology · 1996 · PMID 8836031
  not yet assessed
• A point mutation associated with a severe phenotype of neurofibromatosis 2 ↗

  Annals of Neurology · 1996 · PMID 8797533
  not yet assessed
• No Genetic Effect of α1-Antichymotrypsin in Alzheimer Disease ↗

  Genomics · 1996 · PMID 8617509
  not yet assessed
• Sequence of the voltage-gated sodium channel β1-subunit in wild-type and in quivering mice ↗

  Molecular Brain Research · 1996 · PMID 9013777
  not yet assessed
• (untitled) ↗

  Cold Spring Harbor Symposia on Quantitative Biology · 1996 · PMID 9246488
  not yet assessed
• No Association between α1‐Antichymotrypsin and Familial Alzheimer's Diseasesa ↗

  Annals of the New York Academy of Sciences · 1996 · PMID 8993482
  not yet assessed
• The Search for Additional Alzheimer’s Disease Genes ↗

  1996
  not yet assessed
• and in qui˝ering mice

  1996
  not yet assessed
• Mutation Analysis in the NF2 Gene.

  1996
  not yet assessed
• Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. ↗

  Proceedings of the National Academy of Sciences · 1995 · PMID 7568007
  not yet assessed
• Inactivation of the Mouse Huntington's Disease Gene Homolog <i>Hdh</i> ↗

  Science · 1995 · PMID 7618107
  not yet assessed
• Isolation of a novel gene underlying batten disease, CLN3 ↗

  Cell · 1995 · PMID 7553855
  not yet assessed
• Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. ↗

  PubMed · 1995 · PMID 7717450
  not yet assessed
• Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum ↗

  Human Molecular Genetics · 1995 · PMID 8541834
  not yet assessed
• Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease ↗

  Neurology · 1995 · PMID 7617191
  not yet assessed
• Neuropathology and Molecular Genetics of Neurofibromatosis 2 and Related Tumors ↗

  Brain Pathology · 1995 · PMID 7670657
  not yet assessed
• Mapping of the Gene for the Mel1a-Melatonin Receptor to Human Chromosome 4 (MTNR1A) and Mouse Chromosome 8 (Mtnr1a) ↗

  Genomics · 1995 · PMID 7558006
  not yet assessed
• A tiger behind many doors: multiple genetic pathways to malignant glioma ↗

  Trends in Genetics · 1995 · PMID 7482768
  not yet assessed
• Normal and Expanded Huntington’s Disease Gene Alleles Produce Distinguishable Proteins Due to Translation Across the CAG Repeat ↗

  Molecular Medicine · 1995 · PMID 8521295
  not yet assessed
• Huntington's disease ↗

  Seminars in Cell Biology · 1995 · PMID 7620118
  not yet assessed
• Huntington's disease: CAG genetics expands neurobiology ↗

  Current Opinion in Neurobiology · 1995 · PMID 8580718
  not yet assessed
• A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families ↗

  Genomics · 1995 · PMID 8530042
  not yet assessed
• Longitudinal Neuropsychological and Genetic Linkage Analysis of Persons at Risk for Huntington's Disease ↗

  Archives of Neurology · 1995 · PMID 7826277
  not yet assessed
• Apolipoprotein E4 allele and Alzheimer disease: Examination of Allelic association and effect on age at onset in both early‐and late‐onset cases ↗

  Genetic Epidemiology · 1995 · PMID 7713402
  not yet assessed
• NF2 gene analysis distinguishes hemangiopericytoma from meningioma. ↗

  PubMed · 1995 · PMID 7485407
  not yet assessed
• Evidence for Subarachnoid Spread in the Development of Multiple Meningiomas ↗

  Brain Pathology · 1995 · PMID 7767486
  not yet assessed
• Neurofibromatosis 2 gene in human colorectal cancer ↗

  Cancer Genetics and Cytogenetics · 1995 · PMID 7497438
  not yet assessed
• Prenatal diagnosis of familial dysautonomia by analysis of linked CA‐repeat polymorphisms on chromosome 9q31–q33 ↗

  American Journal of Medical Genetics · 1995 · PMID 8599360
  not yet assessed
• Cloning of a Highly Conserved Human Protein Serine-Threonine Phosphatase Gene from the Glioma Candidate Region on Chromosome 19q13.3 ↗

  Genomics · 1995 · PMID 8666404
  not yet assessed
• Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. ↗

  Proceedings of the National Academy of Sciences · 1995 · PMID 7644504
  not yet assessed
• A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. ↗

  PubMed · 1995 · PMID 7898926
  not yet assessed
• Prenatal diagnostic testing for familial dysautonomia using linked genetic markers ↗

  Prenatal Diagnosis · 1995 · PMID 8559751
  not yet assessed
• The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene ↗

  Genomics · 1995 · PMID 7759111
  not yet assessed
• The CEPH consortium linkage map of human chromosome 16 ↗

  Genomics · 1995 · PMID 7774955
  not yet assessed
• Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat ↗

  Somatic Cell and Molecular Genetics · 1994 · PMID 8197474
  not yet assessed
• Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types ↗

  Nature Genetics · 1994 · PMID 8162073
  not yet assessed
• Trinucleotide repeat length and progression of illness in Huntington's disease. ↗

  Journal of Medical Genetics · 1994 · PMID 7853373
  not yet assessed
• An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). ↗

  Journal of Biological Chemistry · 1994 · PMID 8089100
  not yet assessed
• Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers ↗

  American Journal of Medical Genetics · 1994 · PMID 7913294
  not yet assessed
• Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. ↗

  PubMed · 1994 · PMID 8261460
  not yet assessed
• The gene for achondroplasia maps to the telomeric region of chromosome 4p ↗

  Nature Genetics · 1994 · PMID 8012397
  not yet assessed
• Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains ↗

  Neurobiology of Disease · 1994 · PMID 9173995
  not yet assessed
• High resolution localization of recombination hot spots using sperm typing ↗

  Nature Genetics · 1994 · PMID 7920662
  not yet assessed
• Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease ↗

  Human Molecular Genetics · 1994 · PMID 8162059
  not yet assessed
• Sequence Analysis and Mapping of a Novel Human Mitochondrial ATP Synthase Subunit 9 cDNA (ATP5G3) ↗

  Genomics · 1994 · PMID 7698763
  not yet assessed
• Mouse Huntington's disease gene homolog (Hdh) ↗

  Somatic Cell and Molecular Genetics · 1994 · PMID 8009370
  not yet assessed
• IT15 gene expression in fetal human brain ↗

  Brain Research · 1994 · PMID 7820679
  not yet assessed
• The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. ↗

  PubMed · 1994 · PMID 8062276
  not yet assessed
• The Importance of Genetic Mosaicism in Human Disease ↗

  New England Journal of Medicine · 1994 · PMID 7969285
  not yet assessed
• Mapping of a Human A2a Adenosine Receptor (ADORA2) to Chromosome 22 ↗

  Genomics · 1994 · PMID 8020991
  not yet assessed
• Huntington's Disease and Repeating Trinucleotides ↗

  New England Journal of Medicine · 1994 · PMID 8159202
  not yet assessed
• Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of humanα-ketoglutarate dehydrogenase complex ↗

  Somatic Cell and Molecular Genetics · 1994 · PMID 8009371
  not yet assessed
• <i>MTS1/CDKN2</i> gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p ↗

  Human Molecular Genetics · 1994 · PMID 7849711
  not yet assessed
• Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes ↗

  Annals of Neurology · 1994 · PMID 7915897
  not yet assessed
• Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene ↗

  Human Molecular Genetics · 1994 · PMID 8162055
  not yet assessed
• CEPH Consortium Map of Chromosome 9 ↗

  Genomics · 1994 · PMID 8188250
  not yet assessed
• Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5 ↗

  Mammalian Genome · 1994 · PMID 7919654
  not yet assessed
• Mutational analysis of NF2 by in vitro expression assay

  The American Journal of Human Genetics · 1994
  not yet assessed
• Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease ↗

  Neurology · 1993 · PMID 8350998
  not yet assessed
• The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene ↗

  Nature Genetics · 1993 · PMID 8298641
  not yet assessed
• Trinucleotide repeat length instability and age of onset in Huntington's disease ↗

  Nature Genetics · 1993 · PMID 8401587
  not yet assessed
• De novo expansion of a (CAG)n repeat in sporadic Huntington's disease ↗

  Nature Genetics · 1993 · PMID 8252042
  not yet assessed
• Molecular Genetics of Huntington's Disease ↗

  Archives of Neurology · 1993 · PMID 8215974
  not yet assessed
• Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis ↗

  Nature Genetics · 1993 · PMID 8102296
  not yet assessed
• Molecular Genetics of Pediatric Brain Stem Gliomas. Application of PCR Techniques to Small and Archival Brain Tumor Specimens ↗

  Journal of Neuropathology & Experimental Neurology · 1993 · PMID 8103086
  not yet assessed
• Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments ↗

  Human Molecular Genetics · 1993 · PMID 8353485
  not yet assessed
• Neurofibromatosis type 1 gene mutations in neuroblastoma ↗

  Nature Genetics · 1993 · PMID 8490657
  not yet assessed
• The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. ↗

  PubMed · 1993 · PMID 8317477
  not yet assessed
• A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene ↗

  Nature Genetics · 1993 · PMID 8348156
  not yet assessed
• Modification of the Na+ current conducted by the rat skeletal muscle ? subunit by coexpression with a human brain ? subunit ↗

  Pflügers Archiv - European Journal of Physiology · 1993 · PMID 7683789
  not yet assessed
• Accumulation of wild type p53 protein in human astrocytomas. ↗

  PubMed · 1993 · PMID 8339248
  not yet assessed
• Hunting for Huntington's Disease ↗

  Elsevier eBooks · 1993 · PMID 8220162
  not yet assessed
• Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. ↗

  PubMed · 1993 · PMID 8434611
  not yet assessed
• Analysis of the <i>c‐FOS</i> gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease ↗

  Neurology · 1993 · PMID 8232942
  not yet assessed
• Characterization of a duplication in the terminal band of 4p by molecular cytogenetics ↗

  American Journal of Medical Genetics · 1993 · PMID 7684190
  not yet assessed
• Chromosomal localization of the gene for human B-cell antigen CD40 ↗

  Somatic Cell and Molecular Genetics · 1993 · PMID 7687385
  not yet assessed
• The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library ↗

  Human Molecular Genetics · 1993 · PMID 8499921
  not yet assessed
• The gene for familial dysautonomia is linked to chromosome 9 and shows strong linkage disequilibrium with D9S58

  The Society for Neuroscience Abstracts · 1993
  not yet assessed
• A genetic linkage map of the chromosome 4 short arm ↗

  Somatic Cell and Molecular Genetics · 1993 · PMID 8096345
  not yet assessed
• Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus ↗

  Human Molecular Genetics · 1993 · PMID 8504314
  not yet assessed
• A Set of STS Assays Targeting the Chromosome 22 Physical Framework Markers ↗

  Genomics · 1993 · PMID 8468063
  not yet assessed
• Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets ↗

  Genetic Epidemiology · 1993 · PMID 8314027
  not yet assessed
• Identification of human chromosome 9 specific genes using exon amplification ↗

  Human Molecular Genetics · 1993 · PMID 7506603
  not yet assessed
• A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteins ↗

  Human Molecular Genetics · 1993 · PMID 8353488
  not yet assessed
• Elastic DNA Elements -- Boon or Blight? ↗

  New England Journal of Medicine · 1993 · PMID 8336758
  not yet assessed
• Discrepancy resolved ↗

  Nature Genetics · 1993 · PMID 8110292
  not yet assessed
• MOLECULAR GENETIC ALTERATIONS IN PEDIATRIC BRAIN STEM GLIOMAS ↗

  Journal of Neuropathology & Experimental Neurology · 1993
  not yet assessed
• A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families ↗

  The Japanese Journal of Human Genetics · 1993 · PMID 8102909
  not yet assessed
• Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 ↗

  Nature Genetics · 1992 · PMID 1303289
  not yet assessed
• Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus. ↗

  Proceedings of the National Academy of Sciences · 1992 · PMID 1281547
  not yet assessed
• Serial Changes of Cerebral Glucose Metabolism and Caudate Size in Persons at Risk for Huntington's Disease ↗

  Archives of Neurology · 1992 · PMID 1444883
  not yet assessed
• The Huntington's disease candidate region exhibits many different haplotypes ↗

  Nature Genetics · 1992 · PMID 1302016
  not yet assessed
• Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel ↗

  Nature Genetics · 1992 · PMID 1338909
  not yet assessed
• Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. ↗

  PubMed · 1992 · PMID 1347197
  not yet assessed
• A novel G protein-coupled receptor kinase gene cloned from 4p16.3 ↗

  Human Molecular Genetics · 1992 · PMID 1338872
  not yet assessed
• Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita ↗

  Cell · 1992 · PMID 1310898
  not yet assessed
• Complete Human NF1 cDNA Sequence: Two Alternatively Spliced mRNAs and Absence of Expression in a Neuroblastoma Line ↗

  DNA and Cell Biology · 1992 · PMID 1457041
  not yet assessed
• Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene ↗

  Neurology · 1992 · PMID 1520398
  not yet assessed
• Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3 ↗

  Nature Genetics · 1992 · PMID 1338771
  not yet assessed
• The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p ↗

  Genomics · 1992 · PMID 1427851
  not yet assessed
• A recombination event that redefines the Huntington disease region. ↗

  PubMed · 1992 · PMID 1386495
  not yet assessed
• Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4 ↗

  Molecular and Cellular Probes · 1992 · PMID 1480191
  not yet assessed
• Construction of a GT polymorphism map of human 9q ↗

  Genomics · 1992 · PMID 1339384
  not yet assessed
• The genomic structure of the human skeletal muscle sodium channel gene ↗

  Human Molecular Genetics · 1992 · PMID 1339144
  not yet assessed
• A dinucleotide repeat polymorphism at the D4S127 locus ↗

  Human Molecular Genetics · 1992 · PMID 1339471
  not yet assessed
• A genetic linkage map of human chromosome 9q ↗

  Genomics · 1992 · PMID 1427899
  not yet assessed
• Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34 ↗

  Human Molecular Genetics · 1992 · PMID 1284469
  not yet assessed
• The ?-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse Chromosome 11 ↗

  Mammalian Genome · 1992 · PMID 1352160
  not yet assessed
• The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism ↗

  Nucleic Acids Research · 1992 · PMID 1542596
  not yet assessed
• Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1 ↗

  Human Molecular Genetics · 1992 · PMID 1307256
  not yet assessed
• Mapping of ornithine aminotransferase gene sequences to mouse Chromosomes 7, X, and 3 ↗

  Mammalian Genome · 1992 · PMID 1349842
  not yet assessed
• A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy ↗

  Human Mutation · 1992 · PMID 1301936
  not yet assessed
• Principles of molecular genetics/Dystonia ↗

  Movement Disorders · 1992
  not yet assessed
• Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification ↗

  Nature Genetics · 1992 · PMID 1345173
  not yet assessed
• Radiation hybrid map spanning the huntington disease gene region of chromosome 4 ↗

  Genomics · 1992 · PMID 1387106
  not yet assessed
• Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region ↗

  Genomics · 1992 · PMID 1533609
  not yet assessed
• Linkage, but not gene order, of homologous loci, including ?-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes ↗

  Mammalian Genome · 1992 · PMID 1533802
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S118 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542604
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S120 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542606
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). ↗

  PubMed · 1992 · PMID 1542602
  not yet assessed
• Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2) ↗

  Human Molecular Genetics · 1992 · PMID 1338763
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S112 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542600
  not yet assessed
• Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1) ↗

  Human Molecular Genetics · 1992 · PMID 1301176
  not yet assessed
• Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree ↗

  Cytogenetics and Cell Genetics · 1992 · PMID 1346592
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S117 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542603
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S119 locus (9q22–34) ↗

  Nucleic Acids Research · 1992 · PMID 1542605
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S121 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542607
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S115 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992 · PMID 1542601
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S123 locus (9q31–34) ↗

  Nucleic Acids Research · 1992 · PMID 1542608
  not yet assessed
• A <i>Rsal</i> polymorphism in the ERCC2 locus ↗

  Human Molecular Genetics · 1992 · PMID 1363878
  not yet assessed
• Dinucleotide repeat polymorphism at the D9S116 locus (9q31 –34) ↗

  Nucleic Acids Research · 1992
  not yet assessed
• Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity ↗

  New England Journal of Medicine · 1991 · PMID 2020294
  not yet assessed
• Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma)^a ↗

  Annals of the New York Academy of Sciences · 1991 · PMID 2039155
  not yet assessed
• Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. ↗

  PubMed · 1991 · PMID 1897523
  not yet assessed
• Molecular genetics of Alzheimer disease amyloid. ↗

  Journal of Biological Chemistry · 1991 · PMID 1939107
  not yet assessed
• Loss of chromosome 22 alleles in human sporadic spinal schwannomas ↗

  Annals of Neurology · 1991 · PMID 2012386
  not yet assessed
• Parental origin of chromosome 22 loss in sporadic and NF2 neuromas ↗

  Genomics · 1991 · PMID 1675196
  not yet assessed
• A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4 ↗

  Genomics · 1991 · PMID 1664411
  not yet assessed
• Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. ↗

  PubMed · 1991 · PMID 1746553
  not yet assessed
• Complex patterns of linkage disequilibrium in the Huntington disease region. ↗

  PubMed · 1991 · PMID 1680285
  not yet assessed
• Defined physical limits of the Huntington disease gene candidate region. ↗

  PubMed · 1991 · PMID 1829581
  not yet assessed
• Increased recombination adjacent to the Huntington disease-linked D4S10 marker ↗

  Genomics · 1991 · PMID 1672283
  not yet assessed
• Huntington disease-linked locusD4S111 exposed as the ?-l-iduronidase gene ↗

  Somatic Cell and Molecular Genetics · 1991 · PMID 1832239
  not yet assessed
• Different gene loci for hyperkalemic and hypokalemic periodic paralysis ↗

  Neuromuscular Disorders · 1991 · PMID 1822800
  not yet assessed
• Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. ↗

  PubMed · 1991 · PMID 1867195
  not yet assessed
• Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. ↗

  PubMed · 1991 · PMID 1682785
  not yet assessed
• Mapping of cosmid clones in Huntington's disease region of chromosome 4 ↗

  Somatic Cell and Molecular Genetics · 1991 · PMID 1671801
  not yet assessed
• The direct screening of cosmid libraries with YAC clones ↗

  Nucleic Acids Research · 1991 · PMID 1754409
  not yet assessed
• Detection by PCR of a VNTR polymorphism at D4S43 ↗

  Nucleic Acids Research · 1991 · PMID 1679922
  not yet assessed
• New DNA markers in the Huntington's disease gene candidate region ↗

  Somatic Cell and Molecular Genetics · 1991 · PMID 1684879
  not yet assessed
• Detection by PCR of the VNTR polymorphism at D4S95 ↗

  Nucleic Acids Research · 1991 · PMID 1677758
  not yet assessed
• Huntington’s Disease ↗

  Advances in human genetics · 1991
  not yet assessed
• Dinucleotide repeat polymorphism (D16S285) on human chromosome 16 ↗

  Nucleic Acids Research · 1991 · PMID 1923837
  not yet assessed
• Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia ↗

  Human Genetics · 1991 · PMID 1677923
  not yet assessed
• Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus ↗

  Nucleic Acids Research · 1991 · PMID 2041763
  not yet assessed
• Gene linkage in familial amyotrophic lateral sclerosis: a progress report. ↗

  PubMed · 1991 · PMID 1853758
  not yet assessed
• Mbol RFLP at the D4S43 (C4H) locus ↗

  Nucleic Acids Research · 1991 · PMID 1681512
  not yet assessed
• Molecular Genetic Analysis of the Phakomatoses ↗

  Elsevier eBooks · 1991
  not yet assessed
• Physical mapping of human chromosome 22 using yeast artificial chromosomes

  1991
  not yet assessed
• Further characterization of Pstl RFLPs at the acid alpha glucosidase (GAA) locus ↗

  Nucleic Acids Research · 1991
  not yet assessed
• Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder ↗

  Nature · 1990 · PMID 2395471
  not yet assessed
• Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene ↗

  Science · 1990 · PMID 2173143
  not yet assessed
• Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34 ↗

  Annals of Neurology · 1990 · PMID 2317008
  not yet assessed
• A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease ↗

  Annals of Neurology · 1990 · PMID 1979723
  not yet assessed
• Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. ↗

  PubMed · 1990 · PMID 2105641
  not yet assessed
• The CEPH consortium primary linkage map of human chromosome 10 ↗

  Genomics · 1990 · PMID 1970325
  not yet assessed
• Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. ↗

  PubMed · 1990 · PMID 1967208
  not yet assessed
• Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation ↗

  Genomics · 1990 · PMID 2137426
  not yet assessed
• A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. ↗

  PubMed · 1990 · PMID 2138410
  not yet assessed
• A genetic linkage map of chromosome 17 ↗

  Genomics · 1990 · PMID 2081586
  not yet assessed
• Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. ↗

  PubMed · 1990 · PMID 2220818
  not yet assessed
• Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. ↗

  Journal of Medical Genetics · 1990 · PMID 1969487
  not yet assessed
• Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. ↗

  PubMed · 1990 · PMID 2220822
  not yet assessed
• Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products. ↗

  PubMed · 1990 · PMID 2104687
  not yet assessed
• Banl polymorphism at the XBP1 locus ↗

  Nucleic Acids Research · 1990 · PMID 1977120
  not yet assessed
• Human gene for torsion dystonia located on chromosome 9q32-q34 ↗

  Neuron · 1989 · PMID 2576373
  not yet assessed
• Physical Mapping of a Translocation Breakpoint in Neurofibromatosis ↗

  Science · 1989 · PMID 2543076
  not yet assessed
• Homozygote for Huntington disease. ↗

  PubMed · 1989 · PMID 2535231
  not yet assessed
• Monoamine oxidase deficiency in males with an X chromosome deletion ↗

  Neuron · 1989 · PMID 2483108
  not yet assessed
• A genetic linkage map of the long arm of human chromosome 22 ↗

  Genomics · 1989 · PMID 2563348
  not yet assessed
• Recombination events suggest potential sites for the Huntington's disease gene ↗

  Neuron · 1989 · PMID 2576211
  not yet assessed
• Familial Alzheimer's disease: Progress and problems ↗

  Neurobiology of Aging · 1989 · PMID 2682321
  not yet assessed
• Molecular genetic approaches to Alzheimer's disease ↗

  Trends in Neurosciences · 1989 · PMID 2470173
  not yet assessed
• Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease ↗

  The FASEB Journal · 1989 · PMID 2568302
  not yet assessed
• Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene ↗

  Genomics · 1989 · PMID 2523855
  not yet assessed
• Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes ↗

  American Journal of Medical Genetics · 1989 · PMID 2529766
  not yet assessed
• A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene ↗

  Genomics · 1989 · PMID 2574148
  not yet assessed
• Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4 ↗

  Neurology · 1989 · PMID 2529452
  not yet assessed
• MspI RFLP for human<i>MAOA</i>gene ↗

  Nucleic Acids Research · 1989 · PMID 2481273
  not yet assessed
• The gelsolin (GSN) cDNA clone, from 9q32-34, identifies Bell and StuI RFLPs ↗

  Nucleic Acids Research · 1989 · PMID 2567988
  not yet assessed
• Huntington’s Disease (HD) ↗

  Birkhäuser Boston eBooks · 1989
  not yet assessed
• Huntington Disease and Alzheimer Disease (Chromosome 4 and 21) ↗

  The Journal of Nervous and Mental Disease · 1989
  not yet assessed
• Authors' response to commentaries ↗

  Neurobiology of Aging · 1989
  not yet assessed
• The role of mitochondrial DNA in Huntington's disease ↗

  Journal of Molecular Neuroscience · 1989
  not yet assessed
• Genetic Studies of the Alzheimer’s Disease-Associated Amyloid β-Protein Precursor Gene and Familial Alzheimer’s Disease ↗

  1989
  not yet assessed
• Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease ↗

  Nature · 1988 · PMID 2893290
  not yet assessed
• Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma ↗

  Nature · 1988 · PMID 2894613
  not yet assessed
• _{Predictive Testing for Huntingtons Disease with Use of a Linked DNA Marker} ↗

  New England Journal of Medicine · 1988 · PMID 2893260
  not yet assessed
• Amyloid Protein Precursor Messenger RNAs: Differential Expression in Alzheimer's Disease ↗

  Science · 1988 · PMID 2457949
  not yet assessed
• Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred ↗

  New England Journal of Medicine · 1988 · PMID 3134615
  not yet assessed
• Human monoamine oxidase gene (MAOA): Chromosome position (Xp21-p11) and DNA polymorphism ↗

  Genomics · 1988 · PMID 2906043
  not yet assessed
• Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. ↗

  Proceedings of the National Academy of Sciences · 1988 · PMID 2973063
  not yet assessed
• Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. ↗

  Proceedings of the National Academy of Sciences · 1988 · PMID 3375240
  not yet assessed
• The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. ↗

  PubMed · 1988 · PMID 2893548
  not yet assessed
• Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimerʼs disease ↗

  Alzheimer Disease & Associated Disorders · 1988
  not yet assessed
• Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. ↗

  Proceedings of the National Academy of Sciences · 1988 · PMID 2901095
  not yet assessed
• Construction of a<i>Not</i>I linking library and isolation of new markers close to the Huntington's disease gene ↗

  Nucleic Acids Research · 1988 · PMID 2971929
  not yet assessed
• Mapping of<i>D4S98/S114/S113</i>confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4 ↗

  Nucleic Acids Research · 1988 · PMID 2905444
  not yet assessed
• Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. ↗

  Proceedings of the National Academy of Sciences · 1988 · PMID 2901098
  not yet assessed
• The molecular biology of human glial tumors ↗

  Trends in Neurosciences · 1988 · PMID 2469150
  not yet assessed
• Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes ↗

  Genetic Epidemiology · 1988 · PMID 2905314
  not yet assessed
• Gamma-glutamyl transferase locus (<i>GGT</i>) displays a PvuII polymorphism ↗

  Nucleic Acids Research · 1988 · PMID 2905445
  not yet assessed
• Irradiation-reduced human chromosome 21 hybrids ↗

  Somatic Cell and Molecular Genetics · 1988 · PMID 3163426
  not yet assessed
• A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3 ↗

  Nucleic Acids Research · 1988 · PMID 2894638
  not yet assessed
• Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21. ↗

  Proceedings of the National Academy of Sciences · 1988 · PMID 2898783
  not yet assessed
• Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. ↗

  PubMed · 1988 · PMID 3348217
  not yet assessed
• Molecular genetics of an autosomal dominant form of torsion dystonia. ↗

  PubMed · 1988 · PMID 2899954
  not yet assessed
• Amyloid β protein gene ↗

  Alzheimer Disease & Associated Disorders · 1988
  not yet assessed
• Molecular Genetic Strategies in Familial Alzheimer’s Disease: Theoretical and Practical Considerations ↗

  Research and perspectives in Alzheimer's disease · 1988
  not yet assessed
• Molecular genetic strategies to investigate Huntington's disease. ↗

  PubMed · 1988 · PMID 2891255
  not yet assessed
• GENETIC ANALYSIS OF THE ALZHEIMER??S ASSOCIATED AMYLOID BETA PEPTIDE GENE ↗

  Alzheimer Disease & Associated Disorders · 1988
  not yet assessed
• AMYLOID PROTEIN PRECURSOR mRNA LACKING THE KUNITZ PROTEASE INHIBITOR SEQUENCE INCREASES IN AD NUCLEUS BASALIS AND LOCUS CERULEUS NEURONS ↗

  Alzheimer Disease & Associated Disorders · 1988
  not yet assessed
• Huntington's disease ↗

  Elsevier eBooks · 1988
  not yet assessed
• Contributors ↗

  Elsevier eBooks · 1988
  not yet assessed
• Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus ↗

  Science · 1987 · PMID 2949367
  not yet assessed
• The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21 ↗

  Science · 1987 · PMID 2880399
  not yet assessed
• Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 ↗

  Nature · 1987 · PMID 2888021
  not yet assessed
• Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage ↗

  Nature · 1987 · PMID 2886918
  not yet assessed
• Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene ↗

  Cell · 1987 · PMID 2884037
  not yet assessed
• Homozygotes for Huntington's disease ↗

  Nature · 1987 · PMID 2881213
  not yet assessed
• Molecular genetic approach to human meningioma: loss of genes on chromosome 22. ↗

  Proceedings of the National Academy of Sciences · 1987 · PMID 3037550
  not yet assessed
• Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere ↗

  Cell · 1987 · PMID 2886227
  not yet assessed
• The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene ↗

  Nature · 1987 · PMID 2888020
  not yet assessed
• Common Pathogenetic Mechanism for Three Tumor Types in Bilateral Acoustic Neurofibromatosis ↗

  Science · 1987 · PMID 3105060
  not yet assessed
• DNA Sequence and Regional Assignment of the Human Follicle-Stimulating Hormone β-Subunit Gene to the Short Arm of Human Chromosome 11 ↗

  DNA · 1987 · PMID 2885163
  not yet assessed
• Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17 ↗

  Genomics · 1987 · PMID 2896628
  not yet assessed
• Absence of Duplication of Chromosome 21 Genes in Familial and Sporadic Alzheimer's Disease ↗

  Science · 1987 · PMID 2890206
  not yet assessed
• A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease ↗

  Science · 1987 · PMID 2890209
  not yet assessed
• Molecular genetics of human chromosome 21. ↗

  Journal of Medical Genetics · 1987 · PMID 2884319
  not yet assessed
• Isolation of polymorphic DNA fragments from human chromosome 4 ↗

  Nucleic Acids Research · 1987 · PMID 2881276
  not yet assessed
• A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene ↗

  Genomics · 1987 · PMID 2889660
  not yet assessed
• Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes ↗

  Human Genetics · 1987 · PMID 2886418
  not yet assessed
• Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4 ↗

  Somatic Cell and Molecular Genetics · 1987 · PMID 2889272
  not yet assessed
• Linkage of G8 (D4S10) in two Swedish families with Huntington's disease ↗

  Clinical Genetics · 1987 · PMID 2961484
  not yet assessed
• Chromosomal Localization of the Mouse Homolog of the Huntington's Disease Linked G8 ( <i>D4S10</i> ) Marker ↗

  DNA · 1987 · PMID 2890502
  not yet assessed
• Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi‐point linkage analysis ↗

  Genetic Epidemiology · 1987 · PMID 3692135
  not yet assessed
• Genetic linkage analysis of familial Alzheimer's disease

  The Journal of the American Medical Association (JAMA) Network (American Medical Association) · 1987
  not yet assessed
• Huntingtons Disease ↗

  New England Journal of Medicine · 1986 · PMID 2877396
  not yet assessed
• Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma ↗

  Nature · 1986 · PMID 3092103
  not yet assessed
• DNA POLYMORPHISM AND HUMAN DISEASE ↗

  Annual Review of Biochemistry · 1986 · PMID 3017198
  not yet assessed
• Investigation of Gyrate Atrophy Using a cDNA Clone for Human Ornithine Aminotransferase ↗

  DNA · 1986 · PMID 3816496
  not yet assessed
• Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. ↗

  PubMed · 1986 · PMID 2876628
  not yet assessed
• Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. ↗

  PubMed · 1986 · PMID 3014865
  not yet assessed
• Recombinant DNA techniques in the diagnosis of inherited disorders. ↗

  Journal of Clinical Investigation · 1986 · PMID 2940264
  not yet assessed
• Studies of a DNA marker (G8) genetically linked to Huntington disease in British families ↗

  Human Genetics · 1986 · PMID 3017842
  not yet assessed
• Molecular Genetics of Huntington's Disease ↗

  Cold Spring Harbor Symposia on Quantitative Biology · 1986 · PMID 2884064
  not yet assessed
• Linkage Analysis in a Family with Dominantly Inherited Torsion Dystonia: Exclusion of the Pro-Opiomelanocortin and Glutamic Acid Decarboxylase Genes and Other Chromosomal Regions Using DNA Polymorphisms ↗

  Journal of Neurogenetics · 1986 · PMID 3016220
  not yet assessed
• Probes in Huntington's chorea (reply) ↗

  Nature · 1986
  not yet assessed
• Genetic Linkage Analysis of Neurofibromatosis with DNA Markersa ↗

  Annals of the New York Academy of Sciences · 1986 · PMID 3105395
  not yet assessed
• Accuracy of testing for Huntington's disease ↗

  Nature · 1986 · PMID 2944001
  not yet assessed
• The molecular genetic approach to familial alzheimer's disease ↗

  Neurobiology of Aging · 1986
  not yet assessed
• DNA Markers in Familial Alzheimer’s Disease ↗

  1986
  not yet assessed
• Genetic analysis workshop IV: Huntington disease linkage analysis, data description. ↗

  PubMed · 1986 · PMID 2952548
  not yet assessed
• A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113 ↗

  Nucleic Acids Research · 1986 · PMID 3018684
  not yet assessed
• Molecular cloning of a full length complementary dna for ornithine aminotransferase

  1986
  not yet assessed
• Genetic analysis workshop IV: Huntington disease linkage analysis, data description ↗

  Genetic Epidemiology · 1986
  not yet assessed
• Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome ↗

  Nature · 1985 · PMID 2997623
  not yet assessed
• Huntington's Disease: Two Families with Differing Clinical Features Show Linkage to the G8 Probe ↗

  Science · 1985 · PMID 2992086
  not yet assessed
• A DNA Polymorphism for Huntington's Disease Marks the Future ↗

  Archives of Neurology · 1985 · PMID 3155610
  not yet assessed
• Isolation of polymorphic DNA segments from human chromosome 21 ↗

  Nucleic Acids Research · 1985
  not yet assessed
• Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. ↗

  Journal of Medical Genetics · 1985 · PMID 3001311
  not yet assessed
• DNA Markers in Huntington’s Disease ↗

  1985
  not yet assessed
• Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion ↗

  Annals of the New York Academy of Sciences · 1985 · PMID 3160292
  not yet assessed
• A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21. ↗

  The EMBO Journal · 1985 · PMID 3000767
  not yet assessed
• RFLPs at the D21S19 locus of human chromosome 21 ↗

  Nucleic Acids Research · 1985 · PMID 2997741
  not yet assessed
• Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21a ↗

  Annals of the New York Academy of Sciences · 1985 · PMID 2990311
  not yet assessed
• Genetic Linkage Map for Chromosome 21a ↗

  Annals of the New York Academy of Sciences · 1985 · PMID 2990310
  not yet assessed
• DNA HARKERS IN HUNTINGTON'S DISEASE

  1985
  not yet assessed
• Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines ↗

  In Vitro Cellular & Developmental Biology - Plant · 1984 · PMID 6519667
  not yet assessed
• Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. ↗

  Proceedings of the National Academy of Sciences · 1984 · PMID 6582508
  not yet assessed
• Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker ↗

  Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 1984 · PMID 6240313
  not yet assessed
• Huntington disease: Estimation of heterozygote status using linked genetic markers ↗

  Genetic Epidemiology · 1984 · PMID 6242401
  not yet assessed
• Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts ↗

  Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1984 · PMID 6733108
  not yet assessed
• RING 21 CHROMOSOME: LOCALIZATION OF THE BREAKPOINTS WITHIN A 2 KB DNA FRAGMENT ↗

  Pediatric Research · 1984
  not yet assessed
• A polymorphic DNA marker genetically linked to Huntington's disease ↗

  Nature · 1983 · PMID 6316146
  not yet assessed
• DNA methylation affecting the expression of murine leukemia proviruses ↗

  Journal of Virology · 1982 · PMID 6183444
  not yet assessed
• Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole ↗

  Journal of Cellular Physiology · 1982 · PMID 6957412
  not yet assessed
• Recombinant DNA approach to neurogenetic disorders ↗

  Trends in Neurosciences · 1982
  not yet assessed
• 704 ISOLATION OF DNA SEGMENTS FROM THE HUMAN X CHROMOSOME ↗

  Pediatric Research · 1981
  not yet assessed
• Isolation and localization of DNA segments from specific human chromosomes ↗

  Proceedings of the National Academy of Sciences · 1980 · PMID 6930670
  not yet assessed
• Control of Proliferation and Differentiation in Cells Transformed by Friend Virus ↗

  Cold Spring Harbor Symposia on Quantitative Biology · 1980 · PMID 6933050
  not yet assessed
• The organization of a nuclear DNA sequence from a higher plant: Molecular cloning and characterization of soybean ribosomal DNA ↗

  Gene · 1979 · PMID 160361
  not yet assessed
• Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells. ↗

  PubMed · 1979 · PMID 289436
  not yet assessed
• Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis ↗

  Cell · 1976 · PMID 975244
  not yet assessed
• Induction of erythroid differentiation in vitro by purines and purine analogues ↗

  Cell · 1976 · PMID 971485
  not yet assessed