Vera M. Kalscheuer

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.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

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 GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
  2010 96/100

1 assessed by us (1 reproduced) · 235 not yet assessed — every PubMed paper on record, linked below.

• MCT8 Deficiency in Females ↗

  The Journal of Clinical Endocrinology & Metabolism · 2025 · PMID 40420837
  not yet assessed
• Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes ↗

  Cell Reports · 2025 · PMID 40220293
  not yet assessed
• <scp> <i>CLCN4</i> </scp> ‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities ↗

  American Journal of Medical Genetics Part A · 2025 · PMID 40762462
  not yet assessed
• Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape ↗

  medRxiv · 2025
  not yet assessed
• Multi-Site Investigation of Gut Microbiota in CDKL5 Deficiency Disorder Mouse Models: Targeting Dysbiosis to Improve Neurological Outcomes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• Aberrant phase separation and nucleolar dysfunction in rare genetic diseases ↗

  Nature · 2023 · PMID 36755093
  not yet assessed
• Single-cell, whole-embryo phenotyping of mammalian developmental disorders ↗

  Nature · 2023 · PMID 37968388
  not yet assessed
• Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome ↗

  Molecular Psychiatry · 2023 · PMID 38030819
  not yet assessed
• Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes ↗

  Nature Communications · 2022 · PMID 36309531
  not yet assessed
• Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X ↗

  Nature Communications · 2022 · PMID 36323681
  not yet assessed
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ↗

  Molecular Psychiatry · 2022 · PMID 36385166
  not yet assessed
• Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models ↗

  Biomedicines · 2022 · PMID 36551904
  not yet assessed
• Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders ↗

  medRxiv · 2022
  not yet assessed
• Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Systematic analysis and prediction of genes associated with disorders on chromosome X ↗

  medRxiv · 2022
  not yet assessed
• Molecular consequences of <i>PQBP1</i> deficiency, involved in the X-linked Renpenning syndrome ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases ↗

  The American Journal of Human Genetics · 2020 · PMID 32470376
  not yet assessed
• A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans ↗

  Nucleic Acids Research · 2020 · PMID 32816001
  not yet assessed
• Novel pathogenic <scp> <i>EIF2S3</i> </scp> missense variants causing clinically variable <scp>MEHMO</scp> syndrome with impaired <scp>eIF2γ</scp> translational function, and literature review ↗

  Clinical Genetics · 2020 · PMID 32799315
  not yet assessed
• Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability ↗

  Molecular Genetics & Genomic Medicine · 2020 · PMID 32715656
  not yet assessed
• Comprehensive <scp>genotype‐phenotype</scp> correlation in <scp>AP</scp> ‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients ↗

  Clinical Genetics · 2020 · PMID 32895917
  not yet assessed
• Variants in CUL4B are Associated with Cerebral Malformations ↗

  UNC Libraries · 2020
  not yet assessed
• A Point Mutation in the RNA Recognition Motif of <i>CSTF2</i> Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Intracellular CLC Transporters - From Kidney Stones to Intellectual Disability ↗

  Biophysical Journal · 2020
  not yet assessed
• Author response for "Novel pathogenic &lt;scp&gt; &lt;i&gt;EIF2S3&lt;/i&gt; &lt;/scp&gt; missense variants causing clinically variable &lt;scp&gt;MEHMO&lt;/scp&gt; syndrome with impaired &lt;scp&gt;eIF2γ&lt;/scp&gt; translational function, and literature review" ↗

  2020
  not yet assessed
• Author response for "Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients" ↗

  2020
  not yet assessed
• Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation: RBM10 mediated alternative splicing ↗

  UNC Libraries · 2020
  not yet assessed
• Redefining the MED13L syndrome ↗

  UNC Libraries · 2020
  not yet assessed
• Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita ↗

  Human Mutation · 2019 · PMID 31206972
  not yet assessed
• TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish ↗

  Scientific Reports · 2019 · PMID 31341187
  not yet assessed
• Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability ↗

  Frontiers in Molecular Neuroscience · 2019 · PMID 30914922
  not yet assessed
• Identification of disease‐causing variants in the <i>EXOSC</i> gene family underlying autosomal recessive intellectual disability in Iranian families ↗

  Clinical Genetics · 2019 · PMID 30950035
  not yet assessed
• Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome ↗

  Human Mutation · 2019 · PMID 31033088
  not yet assessed
• Author response for "Identification of disease causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families" ↗

  2019
  not yet assessed
• Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements

  University of Southern Denmark Research Portal (University of Southern Denmark) · 2019
  not yet assessed
• Genetics of intellectual disability in consanguineous families ↗

  Molecular Psychiatry · 2018 · PMID 29302074
  not yet assessed
• Effect of inbreeding on intellectual disability revisited by trio sequencing ↗

  Clinical Genetics · 2018 · PMID 30315573
  not yet assessed
• O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling ↗

  Journal of Biological Chemistry · 2018 · PMID 29769320
  not yet assessed
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation ↗

  Nature Genetics · 2018 · PMID 30224647
  not yet assessed
• MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype ↗

  Neurogenetics · 2018 · PMID 29511999
  not yet assessed
• A recurrent missense variant in <i>SLC9A7</i> causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation ↗

  Human Molecular Genetics · 2018 · PMID 30335141
  not yet assessed
• Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder ↗

  Molecular Psychiatry · 2018 · PMID 29728705
  not yet assessed
• X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells ↗

  Biology of Sex Differences · 2018 · PMID 29463315
  not yet assessed
• The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of <i>MED12</i>‐related disorders ↗

  Clinical Genetics · 2018 · PMID 30006928
  not yet assessed
• <i>GPR126</i>: A novel candidate gene implicated in autosomal recessive intellectual disability ↗

  American Journal of Medical Genetics Part A · 2018 · PMID 30549416
  not yet assessed
• MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

  HAL (Le Centre pour la Communication Scientifique Directe) · 2018
  not yet assessed
• Author response for "Effect of inbreeding on intellectual disability revisited by Trio sequencing" ↗

  2018
  not yet assessed
• <i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO ↗

  Human Mutation · 2017 · PMID 28055140
  not yet assessed
• <i>CDKL5</i> variants ↗

  Neurology Genetics · 2017 · PMID 29264392
  not yet assessed
• De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction ↗

  The American Journal of Human Genetics · 2017 · PMID 29100093
  not yet assessed
• Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features ↗

  Brain · 2017 · PMID 29053855
  not yet assessed
• <i>ARHGEF9</i> disease ↗

  Neurology Genetics · 2017 · PMID 28589176
  not yet assessed
• Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission ↗

  Nature Communications · 2017 · PMID 28262662
  not yet assessed
• FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis ↗

  Human Molecular Genetics · 2017 · PMID 29267967
  not yet assessed
• Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction ↗

  European Journal of Human Genetics · 2017 · PMID 28612833
  not yet assessed
• NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers ↗

  Research at the University of Copenhagen (University of Copenhagen) · 2017
  not yet assessed
• De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females ↗

  Molecular Psychiatry · 2016 · PMID 27550844
  not yet assessed
• Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability ↗

  Gene · 2016 · PMID 27993705
  not yet assessed
• Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family ↗

  Frontiers in Molecular Neuroscience · 2016 · PMID 26793055
  not yet assessed
• A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3 ↗

  Molecular Cytogenetics · 2016 · PMID 27478502
  not yet assessed
• Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling ↗

  The American Journal of Human Genetics · 2015 · PMID 26235985
  not yet assessed
• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes ↗

  Molecular Psychiatry · 2015 · PMID 25644381
  not yet assessed
• Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i> ↗

  Human Mutation · 2015 · PMID 26310293
  not yet assessed
• TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations ↗

  The American Journal of Human Genetics · 2015 · PMID 26637982
  not yet assessed
• Redefining the MED13L syndrome ↗

  European Journal of Human Genetics · 2015 · PMID 25758992
  not yet assessed
• New insights into Brunner syndrome and potential for targeted therapy ↗

  Clinical Genetics · 2015 · PMID 25807999
  not yet assessed
• THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability ↗

  The American Journal of Human Genetics · 2015 · PMID 26166480
  not yet assessed
• HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain ↗

  Human Molecular Genetics · 2015 · PMID 25740848
  not yet assessed
• A Novel Mutation in<i>RPL10</i>(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia ↗

  Human Mutation · 2015 · PMID 26290468
  not yet assessed
• Increased<i>STAG2</i>dosage defines a novel cohesinopathy with intellectual disability and behavioral problems ↗

  Human Molecular Genetics · 2015 · PMID 26443594
  not yet assessed
• Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities? ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 26358559
  not yet assessed
• Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome ↗

  European Journal of Medical Genetics · 2015 · PMID 25934484
  not yet assessed
• Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16 ↗

  Biochemical Journal · 2015 · PMID 26205494
  not yet assessed
• Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology ↗

  The American Journal of Human Genetics · 2014 · PMID 25434005
  not yet assessed
• Involvement of the kinesin family members <i>KIF4A</i> and <i>KIF5C</i> in intellectual disability and synaptic function ↗

  Journal of Medical Genetics · 2014 · PMID 24812067
  not yet assessed
• Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature ↗

  BMC Medical Genetics · 2014 · PMID 24962056
  not yet assessed
• X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes ↗

  Orphanet Journal of Rare Diseases · 2014 · PMID 24721225
  not yet assessed
• Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits ↗

  Annals of Neurology · 2014 · PMID 25223753
  not yet assessed
• Variants in<i>CUL4B</i>are Associated with Cerebral Malformations ↗

  Human Mutation · 2014 · PMID 25385192
  not yet assessed
• In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells ↗

  Molecular Psychiatry · 2014 · PMID 25070536
  not yet assessed
• Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations ↗

  Human Mutation · 2014 · PMID 25219469
  not yet assessed
• Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia ↗

  Human Molecular Genetics · 2014 · PMID 24986922
  not yet assessed
• A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9 ↗

  Molecular Cytogenetics · 2014
  not yet assessed
• [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. ↗

  PubMed · 2014 · PMID 25582014
  not yet assessed
• Monivammaisuuden taustalla Allan-Herndon-Dudleyn oireyhtymä

  2014
  not yet assessed
• Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ↗

  The Lancet Neurology · 2013 · PMID 23707145
  not yet assessed
• Integrative analysis revealed the molecular mechanism underlying RBM10‐mediated splicing regulation ↗

  EMBO Molecular Medicine · 2013 · PMID 24000153
  not yet assessed
• Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy ↗

  Molecular Cell · 2013 · PMID 23685073
  not yet assessed
• Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients ↗

  Human Genetics · 2013 · PMID 23329067
  not yet assessed
• ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity ↗

  The American Journal of Human Genetics · 2013 · PMID 23623388
  not yet assessed
• Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth ↗

  Human Molecular Genetics · 2013 · PMID 23615299
  not yet assessed
• Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders ↗

  Frontiers in Genetics · 2013 · PMID 23596459
  not yet assessed
• Clinical and neurocognitive characterization of a family with a novel <i>MED12</i> gene frameshift mutation ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 24039113
  not yet assessed
• Early Frameshift Mutation in<i>PIGA</i>Identified in a Large XLID Family Without Neonatal Lethality ↗

  Human Mutation · 2013 · PMID 24357517
  not yet assessed
• A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome ↗

  Human Molecular Genetics · 2013 · PMID 23696453
  not yet assessed
• Expanding the clinical phenotype of patients with a <i>ZDHHC9</i> mutation ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 24357419
  not yet assessed
• A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy ↗

  European Journal of Human Genetics · 2013 · PMID 23900271
  not yet assessed
• HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability ↗

  European Journal of Medical Genetics · 2013 · PMID 23721686
  not yet assessed
• Synaptic MAGUK Multimer Formation Is Mediated by PDZ Domains and Promoted by Ligand Binding ↗

  Chemistry & Biology · 2013 · PMID 23973190
  not yet assessed
• A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females ↗

  JIMD Reports · 2013 · PMID 24190795
  not yet assessed
• RAB40AL loss-of-function mutation does not cause X-linked intellectual disability

  Adelaide Research & Scholarship (AR&S) (University of Adelaide) · 2013
  not yet assessed
• CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons ↗

  Nature Cell Biology · 2012 · PMID 22922712
  not yet assessed
• Mutation of plasma membrane Ca ²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca ²⁺ homeostasis ↗

  Proceedings of the National Academy of Sciences · 2012 · PMID 22912398
  not yet assessed
• Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations ↗

  Cytogenetic and Genome Research · 2012 · PMID 22516930
  not yet assessed
• A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability ↗

  The American Journal of Human Genetics · 2012 · PMID 23000143
  not yet assessed
• Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin ↗

  The American Journal of Human Genetics · 2012 · PMID 22243965
  not yet assessed
• Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS ↗

  Bioinformatics · 2012 · PMID 22238266
  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
• Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin ↗

  The American Journal of Human Genetics · 2012
  not yet assessed
• Faculty Opinions recommendation of Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2012
  not yet assessed
• Referee report. For: Considerations for clinical read alignment and mutational profiling using next-generation sequencing [v1; indexed, http://f1000r.es/MsY1QZ] ↗

  Faculty of 1000 Research Ltd · 2012
  not yet assessed
• Deep sequencing reveals 50 novel genes for recessive cognitive disorders ↗

  Nature · 2011 · PMID 21937992
  not yet assessed
• Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment ↗

  The American Journal of Human Genetics · 2011 · PMID 21549342
  not yet assessed
• Modeling Read Counts for CNV Detection in Exome Sequencing Data ↗

  Statistical Applications in Genetics and Molecular Biology · 2011 · PMID 23089826
  not yet assessed
• The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules ↗

  Human Molecular Genetics · 2011 · PMID 21933836
  not yet assessed
• Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features ↗

  Neurogenetics · 2011 · PMID 21318334
  not yet assessed
• Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci ↗

  Human Molecular Genetics · 2011 · PMID 21972244
  not yet assessed
• Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability ↗

  BMC Medical Genetics · 2011 · PMID 21251267
  not yet assessed
• Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 ↗

  European Journal of Human Genetics · 2011 · PMID 21267006
  not yet assessed
• Novel <i>GDI1</i> mutation in a large family with nonsyndromic X‐linked intellectual disability ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 22002931
  not yet assessed
• Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation ↗

  European Journal of Medical Genetics · 2011 · PMID 21426945
  not yet assessed
• INVITED SPEAKERS: I-18: IDENTIFICATION OF OVER 50 NOVEL GENES INVOLVED IN ARID BY HOMOZYGOUSITY MAPPING AND NEXT GENERATION SEQUENCING

  2011
  not yet assessed
• Statistical Applications in Genetics and Molecular Biology

  2011
  not yet assessed
• Identification of a New Gene Involved in IHH and Ataxia by Positional Cloning in a Patient with a Balanced Translocation t(3;12)(p13;p13) ↗

  2011
  not yet assessed
• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

  Nature Genetics · 2010 · PMID 20890276
  96/100
• Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly ↗

  The American Journal of Human Genetics · 2010 · PMID 20159109
  not yet assessed
• TRPV1 acts as a synaptic protein and regulates vesicle recycling ↗

  Journal of Cell Science · 2010 · PMID 20483957
  not yet assessed
• Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 20358617
  not yet assessed
• Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations ↗

  Clinical Dysmorphology · 2010 · PMID 20305546
  not yet assessed
• <i>CDKL5</i> truncation due to a t(X;2)(p22.1;p25.3) in a girl with X‐linked infantile spasm syndrome ↗

  Clinical Genetics · 2009 · PMID 19807736
  not yet assessed
• Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing ↗

  The HUGO Journal · 2009
  not yet assessed
• Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing ↗

  European Journal of Human Genetics · 2009 · PMID 19953122
  not yet assessed
• Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 ↗

  European Journal of Human Genetics · 2009 · PMID 19844253
  not yet assessed
• Common pathological mutations in<i>PQBP1</i>induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon ↗

  Human Mutation · 2009 · PMID 19847789
  not yet assessed
• Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing ↗

  The HUGO Journal · 2009 · PMID 20535404
  not yet assessed
• A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation ↗

  Human Mutation · 2008 · PMID 18615734
  not yet assessed
• Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 18792984
  not yet assessed
• Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly ↗

  The American Journal of Human Genetics · 2008 · PMID 18405873
  not yet assessed
• Chromosome deletions in 13q33–34: Report of four patients and review of the literature ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 18203171
  not yet assessed
• Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome ↗

  European Journal of Human Genetics · 2008 · PMID 18854871
  not yet assessed
• Disruption of the <i>TCF4</i> gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 18627065
  not yet assessed
• Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) ↗

  Ophthalmic Genetics · 2008 · PMID 18363172
  not yet assessed
• Evolution of the gonosomal heterochromatin of Microtus agrestis: rapid amplification of a large, multimeric, repeat unit containing a 3.0-kb (GATA) ₁₁ -positive, middle repetitive element ↗

  Cytogenetics and Cell Genetics · 2008 · PMID 8697802
  not yet assessed
• Mapping translocation breakpoints by next-generation sequencing ↗

  Genome Research · 2008 · PMID 18326688
  not yet assessed
• Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation ↗

  Human Genetics · 2007 · PMID 17211639
  not yet assessed
• Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium ↗

  Human Mutation · 2007 · PMID 17221867
  not yet assessed
• Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17230488
  not yet assessed
• Hypergonadotropic hypogonadism in a patient with inv ins (2;4) ↗

  International Journal of Andrology · 2007 · PMID 18042180
  not yet assessed
• Germline KRAS mutations cause Noonan syndrome ↗

  Nature Genetics · 2006 · PMID 16474405
  not yet assessed
• Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans ↗

  The American Journal of Human Genetics · 2006 · PMID 16642442
  not yet assessed
• Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 17163532
  not yet assessed
• Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome ↗

  Human Genetics · 2006 · PMID 16783566
  not yet assessed
• Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect ↗

  European Journal of Human Genetics · 2006 · PMID 16493439
  not yet assessed
• Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation ↗

  Cytogenetic and Genome Research · 2006 · PMID 17124407
  not yet assessed
• A new standard nomenclature for proteins related to Apx and Shroom ↗

  BMC Cell Biology · 2006 · PMID 16615870
  not yet assessed
• Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3 ↗

  European Journal of Human Genetics · 2006 · PMID 16926859
  not yet assessed
• Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 16619204
  not yet assessed
• Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 16470790
  not yet assessed
• Erratum: Corrigendum: Germline KRAS mutations cause Noonan syndrome ↗

  Nature Genetics · 2006
  not yet assessed
• Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome (<i>Am J Med Genet</i> 135A:339–341) ↗

  American Journal of Medical Genetics Part A · 2006
  not yet assessed
• Author Index Vol. 115, No. 3–4, 2006 ↗

  Cytogenetic and Genome Research · 2006
  not yet assessed
• Author Index Vol. 115, 2006 ↗

  Cytogenetic and Genome Research · 2006
  not yet assessed
• Title Page / Table of Contents ↗

  Cytogenetic and Genome Research · 2006
  not yet assessed
• Supplementary Material for: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation ↗

  Figshare · 2006
  not yet assessed
• Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation ↗

  The American Journal of Human Genetics · 2005 · PMID 15586325
  not yet assessed
• Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly ↗

  Human Genetics · 2005 · PMID 16133170
  not yet assessed
• Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome ↗

  European Journal of Human Genetics · 2005 · PMID 15870826
  not yet assessed
• Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation ↗

  Human Genetics · 2005 · PMID 16249884
  not yet assessed
• Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy ↗

  Human Genetics · 2005 · PMID 16249883
  not yet assessed
• Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis ↗

  Journal of Investigative Dermatology · 2005 · PMID 15654959
  not yet assessed
• Characterization of FBX25, encoding a novel brain-expressed F-box protein ↗

  Biochimica et Biophysica Acta (BBA) - General Subjects · 2005 · PMID 16278047
  not yet assessed
• A region on human chromosome 4 (q35.1→qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis ↗

  Genes Chromosomes and Cancer · 2005 · PMID 15838843
  not yet assessed
• Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1) ↗

  American Journal of Medical Genetics Part A · 2005 · PMID 16222663
  not yet assessed
• Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype ↗

  European Journal of Medical Genetics · 2005 · PMID 16762823
  not yet assessed
• Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris ↗

  Clinical Genetics · 2005 · PMID 16433702
  not yet assessed
• First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization ↗

  European Journal of Medical Genetics · 2005 · PMID 16762824
  not yet assessed
• Identification of candidate genes in patients with amyotrophic lateral sclerosis by breakpoint characterisation ↗

  Aktuelle Neurologie · 2005
  not yet assessed
• Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation ↗

  The American Journal of Human Genetics · 2004 · PMID 15499549
  not yet assessed
• Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation ↗

  The American Journal of Human Genetics · 2004 · PMID 15162322
  not yet assessed
• Mild phenotypes in a series of patients with Opitz GBBB syndrome with <i>MID1</i> mutations ↗

  American Journal of Medical Genetics Part A · 2004 · PMID 15558842
  not yet assessed
• Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients ↗

  American Journal of Medical Genetics Part A · 2004 · PMID 15384084
  not yet assessed
• An excess of chromosome 1 breakpoints in male infertility ↗

  European Journal of Human Genetics · 2004 · PMID 15367911
  not yet assessed
• Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome ↗

  American Journal of Medical Genetics Part A · 2004 · PMID 15690381
  not yet assessed
• Evaluation of the IRF-2 Gene as a Candidate for PSORS3 ↗

  Journal of Investigative Dermatology · 2004 · PMID 14962090
  not yet assessed
• Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus ↗

  Journal of Evolutionary Biology · 2004 · PMID 15009278
  not yet assessed
• cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2 ↗

  Gene · 2004 · PMID 15145061
  not yet assessed
• Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing ↗

  Human Genetics · 2004 · PMID 15057556
  not yet assessed
• Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33 ↗

  American Journal of Medical Genetics Part A · 2004 · PMID 15264281
  not yet assessed
• Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation ↗

  The American Journal of Human Genetics · 2003 · PMID 12736870
  not yet assessed
• The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted ↗

  European Journal of Human Genetics · 2003 · PMID 12634861
  not yet assessed
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation ↗

  Nature Genetics · 2003 · PMID 14634649
  not yet assessed
• Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome ↗

  European Journal of Human Genetics · 2003 · PMID 12634870
  not yet assessed
• Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation ↗

  The American Journal of Human Genetics · 2003 · PMID 14628291
  not yet assessed
• Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 14699618
  not yet assessed
• <i>MECP2</i> gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 14598336
  not yet assessed
• Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome ↗

  Human Genetics · 2003 · PMID 12545276
  not yet assessed
• Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the <i>NXF5</i> Gene ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12784308
  not yet assessed
• Nonsyndromic X-linked mental retardation: where are the missing mutations? ↗

  Trends in Genetics · 2003 · PMID 12801724
  not yet assessed
• Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. ↗

  PubMed · 2003 · PMID 12868476
  not yet assessed
• Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia ↗

  Clinical Dysmorphology · 2003
  not yet assessed
• High rate of constitutional chromosomal rearrangements in apparently sporadic ALS ↗

  Neurology · 2003 · PMID 12707441
  not yet assessed
• Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation ↗

  European Journal of Human Genetics · 2003 · PMID 12939649
  not yet assessed
• Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS ↗

  Annals of Neurology · 2003 · PMID 14705124
  not yet assessed
• A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ↗

  Clinical Science · 2003
  not yet assessed
• Prämature Ovarialinsuffizienz bei einer Patientin mit einem ungewöhnlichen pseudoisodizentrischen X-Chromosom ↗

  Geburtshilfe und Frauenheilkunde · 2003
  not yet assessed
• Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency ↗

  The American Journal of Human Genetics · 2002 · PMID 12428212
  not yet assessed
• Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of &lt;i&gt;Microtus agrestis&lt;/i&gt; ↗

  Cytogenetic and Genome Research · 2002 · PMID 12438796
  not yet assessed
• Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2) ↗

  Gene · 2002 · PMID 12034507
  not yet assessed
• Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region ↗

  American Journal of Medical Genetics Part A · 2002 · PMID 12599186
  not yet assessed
• Genomic Organization and Expression of the Doublesex-Related Gene Cluster in Vertebrates and Detection of Putative Regulatory Regions for DMRT1 ↗

  Genomics · 2001 · PMID 11543627
  not yet assessed
• Low incidence of UPD in spontaneous abortions beyond the 5th gestational week ↗

  European Journal of Human Genetics · 2001 · PMID 11840192
  not yet assessed
• Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics ↗

  Cytogenetic and Genome Research · 2001 · PMID 11528111
  not yet assessed
• In‐frame deletion in <i>MECP2</i> causes mild nonspecific mental retardation ↗

  American Journal of Medical Genetics · 2001 · PMID 11807877
  not yet assessed
• Conflicting Reports of Imprinting Status of Human GRB10 in Developing Brain: How Reliable Are Somatic Cell Hybrids for Predicting Allelic Origin of Expression? ↗

  The American Journal of Human Genetics · 2001 · PMID 11170901
  not yet assessed
• Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13 ↗

  Genetic Testing · 2001 · PMID 11788094
  not yet assessed
• Preferential Inactivation of a dupX(q23 → q27–28) Chromosome in a Girl with Mental Retardation and Dysmorphy ↗

  Human Heredity · 2001 · PMID 11588402
  not yet assessed
• A subtelomeric cryptic unbalanced translocation der (1)t(1;18)(q44;q23) in a severely retarded girl: similarities and differences to the deletion 1q42/43-ter syndrome ↗

  Gene Function & Disease · 2001
  not yet assessed
• Differences in the meiotic pairing behavior of gonosomal heterochromatin between female and male &lt;i&gt;Microtus agrestis:&lt;/i&gt; implications for the mechanism of heterochromatin amplification on the X and Y ↗

  Cytogenetic and Genome Research · 2000 · PMID 11173866
  not yet assessed
• Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis ↗

  Chromosome Research · 2000 · PMID 11032317
  not yet assessed
• Identification of two new polymorphisms (c2447-125A&gt;G; c2532G&gt;A) in the ?2-COP (COPG2) gene by screening of Silver-Russell syndrome patients ↗

  Human Mutation · 2000 · PMID 10874328
  not yet assessed
•  2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome ↗

  Human Molecular Genetics · 1999 · PMID 10556286
  not yet assessed
• Identification and characterization of G90, a novel mouse RNA that lacks an extensive open reading frame ↗

  Gene · 1999 · PMID 10333519
  not yet assessed
• Regulation and expression of the murine Pmp22 gene ↗

  Mammalian Genome · 1999 · PMID 10087306
  not yet assessed
• Genomic Structure and Comparative Analysis of Nine <i>Fugu</i> Genes: Conservation of Synteny with Human Chromosome Xp22.2–p22.1 ↗

  Genome Research · 1999 · PMID 10330123
  not yet assessed
• Evidence against a major role of PEG1/MEST in Silver–Russell syndrome ↗

  European Journal of Human Genetics · 1998 · PMID 9781054
  not yet assessed
• Absence of an Obvious Molecular Imprinting Mechanism in a Human Fetus with MonoallelicIGF2RExpression ↗

  Biochemical and Biophysical Research Communications · 1998 · PMID 9535821
  not yet assessed
• Beta-heterochromatin in mammals: evidence from studies in &lt;i&gt;Microtus agrestis&lt;/i&gt; based on the extensive accumulation of L1 and non-L1 retroposons in the heterochromatin ↗

  Cytogenetic and Genome Research · 1998 · PMID 9678352
  not yet assessed
• Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses ↗

  Genomics · 1997 · PMID 9192843
  not yet assessed
• Maternal-Specific Methylation of the HumanIGF2RGene Is Not Accompanied by Allele-Specific Transcription ↗

  Genomics · 1996 · PMID 8824797
  not yet assessed
• TheMASProto-Oncogene Is Not Imprinted in Humans ↗

  Genomics · 1996 · PMID 8661154
  not yet assessed
• Biallelic Expression of the H19 and IGF2 Genes in Human Testicular Germ Cell Tumors ↗

  JNCI Journal of the National Cancer Institute · 1994 · PMID 8021956
  not yet assessed
• Structural and functional comparison of the human and murine IGF2R genes: A search for imprinting signals

  The American Journal of Human Genetics · 1994
  not yet assessed
• The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans ↗

  Nature Genetics · 1993 · PMID 8220428
  not yet assessed
• No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues ↗

  Human Molecular Genetics · 1993 · PMID 8401505
  not yet assessed
• DNase I sensitivity of Microtus agrestis active, inactive and reactivated X chromosomes in mouse-Microtus cell hybrids ↗

  Chromosoma · 1988 · PMID 3282832
  not yet assessed
• Transcriptional activity of constitutive heterochromatin in the mammal Microtus agrestis (Rodentia, Cricetidae) ↗

  Experimental Cell Research · 1987 · PMID 2446895
  not yet assessed