Alexandre Reymond

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 (1)

• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
  2021 L1 100/100

1 assessed by us (1 reproduced) · 296 not yet assessed — every PubMed paper on record, linked below.

• Lipid transport is necessary for neocortical lamination ↗

  Genes & Diseases · 2026
  not yet assessed
• Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila ↗

  2026
  not yet assessed
• Genetic modifiers and ascertainment drive variable expressivity of complex disorders ↗

  Cell · 2025 · PMID 41061703
  not yet assessed
• Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies ↗

  Genome Medicine · 2025 · PMID 40229899
  not yet assessed
• Compounding of rare pathogenic copy-number variants and polygenic background is consistent with assortative mating ↗

  medRxiv · 2025
  not yet assessed
• Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila ↗

  Biochemistry and Biophysics Reports · 2025 · PMID 41399760
  not yet assessed
• Rare copy-number variants as modulators of common disease susceptibility ↗

  Genome Medicine · 2024 · PMID 38185688
  not yet assessed
• The pleiotropic spectrum of proximal 16p11.2 CNVs ↗

  The American Journal of Human Genetics · 2024 · PMID 39332410
  not yet assessed
• Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs ↗

  The American Journal of Human Genetics · 2024 · PMID 39332408
  not yet assessed
• Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles ↗

  Genome Medicine · 2024 · PMID 38811945
  not yet assessed
• Further delineation of the SCAF4-associated neurodevelopmental disorder ↗

  European Journal of Human Genetics · 2024 · PMID 39668183
  not yet assessed
• Genetic modifiers and ascertainment drive variable expressivity of complex disorders ↗

  medRxiv · 2024 · PMID 39252907
  not yet assessed
• Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs ↗

  medRxiv · 2024
  not yet assessed
• Variant-specific pathophysiological mechanisms of <i>AFF3</i> differently influence transcriptome profiles ↗

  medRxiv · 2024 · PMID 38293053
  not yet assessed
• Mitochondrial Deletions and Healthspan: Lessons from the Common Repeat ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• 65. DISENTANGLING MECHANISMS BEHIND THE PLEIOTROPIC EFFECTS OF PROXIMAL 16P11.2 BP4-5 COPY-NUMBER VARIANTS ↗

  European Neuropsychopharmacology · 2024
  not yet assessed
• Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease ↗

  Cell Reports Medicine · 2023 · PMID 37586323
  not yet assessed
• Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  eLife · 2023 · PMID 36891970
  not yet assessed
• Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder ↗

  Genetics in Medicine · 2023 · PMID 37226891
  not yet assessed
• Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein ↗

  Genome biology · 2023 · PMID 37968726
  not yet assessed
• Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations ↗

  Epigenetics & Chromatin · 2023 · PMID 37202802
  not yet assessed
• A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy ↗

  Genes · 2023 · PMID 36980979
  not yet assessed
• Secondary structure of the human mitochondrial genome affects formation of deletions ↗

  BMC Biology · 2023 · PMID 37158879
  not yet assessed
• LGMDR1 with Prominent Limb–Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel <i>CAPN3</i> Mutation: A Case Report ↗

  touchREVIEWS in Neurology · 2023
  not yet assessed
• Copy-number variants as modulators of common disease susceptibility ↗

  medRxiv · 2023
  not yet assessed
• Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts ↗

  npj Genomic Medicine · 2023 · PMID 37225732
  not yet assessed
• The human-restricted oncoprotein POU5F1B enhances cell invasiveness through plasma membrane remodeling ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Cell · 2022 · PMID 35917817
  not yet assessed
• The individual and global impact of copy-number variants on complex human traits ↗

  The American Journal of Human Genetics · 2022 · PMID 35240056
  not yet assessed
• From pharmacogenetics to pharmaco-omics: Milestones and future directions ↗

  Human Genetics and Genomics Advances · 2022 · PMID 35373152
  not yet assessed
• A mitochondria-specific mutational signature of aging: increased rate of A &amp;gt; G substitutions on the heavy strand ↗

  Nucleic Acids Research · 2022 · PMID 36130228
  not yet assessed
• Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ↗

  The American Journal of Human Genetics · 2022 · PMID 36586412
  not yet assessed
• Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome ↗

  Molecular Psychiatry · 2022 · PMID 35768638
  not yet assessed
• Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Genome Medicine · 2022 · PMID 35953856
  not yet assessed
• Germline homozygous missense <i>DEPDC5</i> variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria ↗

  Human Molecular Genetics · 2022 · PMID 36067010
  not yet assessed
• Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts ↗

  npj Genomic Medicine · 2022 · PMID 35715439
  not yet assessed
• <i>PIGN</i>encephalopathy: Characterizing the epileptology ↗

  Epilepsia · 2022 · PMID 35179230
  not yet assessed
• Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes ↗

  Nature · 2022 · PMID 35474001
  not yet assessed
• Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ↗

  European Journal of Human Genetics · 2022
  not yet assessed
• Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ ↗

  European Journal of Human Genetics · 2022 · PMID 36450798
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Author Correction: Perspectives on ENCODE ↗

  Nature · 2022 · PMID 35474002
  not yet assessed
• Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype ↗

  medRxiv · 2022
  not yet assessed
• Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ↗

  European Journal of Human Genetics · 2022 · PMID 35982123
  not yet assessed
• Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ ↗

  European Journal of Human Genetics · 2022 · PMID 36536147
  not yet assessed
• Author response: Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations ↗

  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
• Additional file 2 of Limited evidence for blood eQTLs in human sexual dimorphism ↗

  Open MIND · 2022
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

  Nature Communications · 2021 · PMID 34561431
  L1 100/100
• The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ↗

  European Journal of Human Genetics · 2021 · PMID 34916614
  not yet assessed
• Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the<scp>ENIGMA</scp>working groups on<scp>CNVs</scp> ↗

  Human Brain Mapping · 2021 · PMID 33615640
  not yet assessed
• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ↗

  The American Journal of Human Genetics · 2021 · PMID 33513338
  not yet assessed
• Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy ↗

  The American Journal of Human Genetics · 2021 · PMID 33961779
  not yet assessed
• Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder ↗

  npj Genomic Medicine · 2021 · PMID 34764295
  not yet assessed
• Variants in <i>USP48</i> encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ↗

  Human Molecular Genetics · 2021 · PMID 34059922
  not yet assessed
• Ophthalmic phenotypes associated with biallelic loss‐of‐function <scp><i>PCDH12</i></scp> variants ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 33527719
  not yet assessed
• Rare and de novo coding variants in chromodomain genes in Chiari I malformation ↗

  The American Journal of Human Genetics · 2021
  not yet assessed
• Alpha Satellite Insertion Close to an Ancestral Centromeric Region ↗

  Molecular Biology and Evolution · 2021 · PMID 34464971
  not yet assessed
• Rare and de novo coding variants in chromodomain genes in Chiari I malformation ↗

  The American Journal of Human Genetics · 2021 · PMID 33545031
  not yet assessed
• A cross-disorder dosage sensitivity map of the human genome ↗

  medRxiv · 2021
  not yet assessed
• Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs ↗

  2021
  not yet assessed
• The individual and global impact of copy number variants on complex human traits ↗

  medRxiv · 2021
  not yet assessed
• Alpha satellite insertion close to an ancestral centromeric region ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Biallelic truncation variants in <i>ATP9A</i> are associated with a novel autosomal recessive neurodevelopmental disorder ↗

  medRxiv · 2021
  not yet assessed
• Alpha satellite insertions and the evolutionary landscape of centromeres

  2021
  not yet assessed
• A mitochondria-specific mutational signature of aging: increased rate of A&gt;G substitutions on a heavy chain ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine ↗

  Molecular Genetics and Metabolism · 2021
  not yet assessed
• Expanded encyclopaedias of DNA elements in the human and mouse genomes ↗

  Nature · 2020 · PMID 32728249
  not yet assessed
• Perspectives on ENCODE ↗

  Nature · 2020 · PMID 32728248
  not yet assessed
• Rare and de novo coding variants in chromodomain genes in Chiari I malformation ↗

  The American Journal of Human Genetics · 2020 · PMID 33352116
  not yet assessed
• Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome ↗

  Journal of Medical Genetics · 2020 · PMID 33172956
  not yet assessed
• A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 ↗

  Gene · 2020 · PMID 32473250
  not yet assessed
• Mutation-specific pathophysiological mechanisms in a new SATB1 -associated neurodevelopmental disorder

  HAL (Le Centre pour la Communication Scientifique Directe) · 2020
  not yet assessed
• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome ↗

  medRxiv · 2020
  not yet assessed
• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• The role of gene expression on human sexual dimorphism: too early to call ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  Nature Communications · 2019 · PMID 31341166
  not yet assessed
• Chromatin three-dimensional interactions mediate genetic effects on gene expression ↗

  Science · 2019 · PMID 31048460
  not yet assessed
• Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis ↗

  Nature Communications · 2019 · PMID 31371714
  not yet assessed
• The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals ↗

  The American Journal of Human Genetics · 2019 · PMID 31668704
  not yet assessed
• Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes ↗

  European Journal of Human Genetics · 2019 · PMID 30700833
  not yet assessed
• Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ↗

  NeuroImage · 2019 · PMID 31494251
  not yet assessed
• Prenatal cerebral imaging features of a new syndromic entity related to <i>KIAA1109</i> pathogenic variants mimicking tubulinopathy ↗

  Prenatal Diagnosis · 2019 · PMID 31736083
  not yet assessed
• De novo splice site variant of <i>ARID1B</i> associated with pathogenesis of Coffin–Siris syndrome ↗

  Molecular Genetics & Genomic Medicine · 2019 · PMID 31628733
  not yet assessed
• Pathogenic homozygous variant in <i>POMK</i> gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families ↗

  American Journal of Medical Genetics Part A · 2019 · PMID 31833209
  not yet assessed
• Poster Withdrawn: QUANTIFYING THE EFFECTS OF 16P11.2 CNVs ON BRAIN STRUCTURE, A MULTI-SITE ‘GENETIC-FIRST’MRI STUDY ↗

  European Neuropsychopharmacology · 2019
  not yet assessed
• <i>De Novo</i> Duplication in the <i>CHD7</i> Gene Associated With Severe CHARGE Syndrome ↗

  Genomics Insights · 2019 · PMID 31043788
  not yet assessed
• Leveraging biobank-scale rare and common variant analyses to identify <i>ASPHD1</i> as the main driver of reproductive traits in the 16p11.2 locus ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ↗

  Molecular Psychiatry · 2019 · PMID 30705424
  not yet assessed
• The human-specific <i>BOLA2</i> duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Using Rare Variants, Animal Models and Mendelian Randomization to Pinpoint Causative Genes

  INSAR 2019 Annual Meeting · 2019
  not yet assessed
• Variants in the degron of <i>AFF3</i> cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

  Data Archiving and Networked Services (DANS) · 2019
  not yet assessed
• Deleterious in late life mitochondrial alleles and aging: secrets of Japanese centenarians

  2019
  not yet assessed
• Risk of mitochondrial deletions is affected by the global secondary structure of the human mitochondrial genome ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• GENCODE reference annotation for the human and mouse genomes ↗

  Nucleic Acids Research · 2018 · PMID 30357393
  not yet assessed
• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ↗

  Genetics in Medicine · 2018 · PMID 30190612
  not yet assessed
• Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study ↗

  Biological Psychiatry · 2018 · PMID 29778275
  not yet assessed
• Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ↗

  Molecular Psychiatry · 2018 · PMID 30283035
  not yet assessed
• Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations ↗

  Neuron · 2018 · PMID 30449657
  not yet assessed
• Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous <i>GNB5</i> variants ↗

  Clinical Genetics · 2018 · PMID 29368331
  not yet assessed
• Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss‐of‐function variants ↗

  Ultrasound in Obstetrics and Gynecology · 2018
  not yet assessed
• Large population cohorts reveal unrecognized adult traits of the 16p11.2 CNV syndromes

  European Journal of Human Genetics · 2018
  not yet assessed
• Low number of fixed somatic mutations in a long-lived oak tree ↗

  Nature Plants · 2017 · PMID 29209081
  not yet assessed
• CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits ↗

  Nature Communications · 2017 · PMID 28963451
  not yet assessed
• Bayesian association scan reveals loci associated with human lifespan and linked biomarkers ↗

  Nature Communications · 2017 · PMID 28748955
  not yet assessed
• Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations ↗

  Human Mutation · 2017 · PMID 29193635
  not yet assessed
• KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ↗

  The American Journal of Human Genetics · 2017 · PMID 29290337
  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
• Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis ↗

  BMC Genomics · 2017 · PMID 28183275
  not yet assessed
• Inflammatory myopathy in a patient with Aicardi-Goutières syndrome ↗

  European Journal of Medical Genetics · 2017 · PMID 28089741
  not yet assessed
• Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection ↗

  Genome Research · 2017 · PMID 29237728
  not yet assessed
• Low rate of somatic mutations in a long-lived oak tree ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2017
  not yet assessed
• Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2017
  not yet assessed
• Additional file 1: Figures S1 â S4 and Tables S1, S2, S4, S5. of Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis ↗

  Figshare · 2017
  not yet assessed
• Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations ↗

  UNIFESP Institutional Repository (Universidade Federal de São Paulo) · 2017
  not yet assessed
• Additional file 2: Table S3. of Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis ↗

  Figshare · 2017
  not yet assessed
• Additional file 1: Figures S1 â S4 and Tables S1, S2, S4, S5. of Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis ↗

  Figshare · 2017
  not yet assessed
• Additional file 1: Figures S1 â S4 and Tables S1, S2, S4, S5. of Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis ↗

  Figshare · 2017
  not yet assessed
• Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes ↗

  PLoS Genetics · 2016 · PMID 26872257
  not yet assessed
• Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility ↗

  Nature · 2016 · PMID 27487209
  not yet assessed
• Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ↗

  Molecular Psychiatry · 2016 · PMID 27240531
  not yet assessed
• Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq) ↗

  Nature Communications · 2016 · PMID 27531712
  not yet assessed
• GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability ↗

  The American Journal of Human Genetics · 2016 · PMID 27523599
  not yet assessed
• New quality measure for SNP array based CNV detection ↗

  Bioinformatics · 2016 · PMID 27402902
  not yet assessed
• Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Genome Medicine · 2016 · PMID 27799067
  not yet assessed
• De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia ↗

  European Journal of Human Genetics · 2016 · PMID 26860062
  not yet assessed
• GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability ↗

  The American Journal of Human Genetics · 2016
  not yet assessed
• Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants ↗

  Personalized Medicine · 2016 · PMID 29749813
  not yet assessed
• A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case ↗

  Journal of Pediatric Genetics · 2016 · PMID 28496997
  not yet assessed
• Additional file 2: of Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Figshare · 2016
  not yet assessed
• Additional file 3: of Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Figshare · 2016
  not yet assessed
• Additional file 1: of Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Figshare · 2016
  not yet assessed
• Additional file 3: of Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Figshare · 2016
  not yet assessed
• Additional file 1: of Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics ↗

  Figshare · 2016
  not yet assessed
• Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ↗

  JAMA Psychiatry · 2015 · PMID 26629640
  not yet assessed
• Population Variation and Genetic Control of Modular Chromatin Architecture in Humans ↗

  Cell · 2015 · PMID 26300124
  not yet assessed
• Copy Number Variations and Cognitive Phenotypes in Unselected Populations ↗

  JAMA · 2015 · PMID 26010633
  not yet assessed
• The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition ↗

  Biological Psychiatry · 2015 · PMID 26742926
  not yet assessed
• Mutations in <i>LONP1</i>, a mitochondrial matrix protease, cause CODAS syndrome ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 25808063
  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
• 16p11.2 Locus modulates response to satiety before the onset of obesity ↗

  International Journal of Obesity · 2015 · PMID 26620891
  not yet assessed
• West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 ↗

  European Journal of Human Genetics · 2015 · PMID 26486472
  not yet assessed
• Copy Number Variations and Cognitive Phenotypes in Unselected Populations ↗

  Obstetrical & Gynecological Survey · 2015
  not yet assessed
• Genetic Variations in the Macaca fascicularis Genome Related to Biomedical Research ↗

  Elsevier eBooks · 2015
  not yet assessed
• <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies ↗

  Genome Research · 2015 · PMID 25561519
  not yet assessed
• Errata: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Genome Research (2015) 25 (155-166))

  Genome Research · 2015
  not yet assessed
• UNIGENE: familial intellectual disability in Lithuanian patients

  2015
  not yet assessed
• DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome

  2015
  not yet assessed
• Contributors ↗

  Elsevier eBooks · 2015
  not yet assessed
• Comparative analysis of the transcriptome across distant species ↗

  Nature · 2014 · PMID 25164755
  not yet assessed
• The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity ↗

  Molecular Psychiatry · 2014 · PMID 25421402
  not yet assessed
• 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ↗

  Human Molecular Genetics · 2014 · PMID 24939913
  not yet assessed
• <i>TBC1D7</i>Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease ↗

  Human Mutation · 2014 · PMID 24515783
  not yet assessed
• Identification of structural variation in mouse genomes ↗

  Frontiers in Genetics · 2014 · PMID 25071822
  not yet assessed
• The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile ↗

  BMC Medical Genetics · 2014 · PMID 24986124
  not yet assessed
• Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures ↗

  Genome Research · 2014 · PMID 24916972
  not yet assessed
• "Personalized health" : report to discuss options and frame for a new Swiss initiative

  2014
  not yet assessed
• Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription ↗

  Science · 2013 · PMID 24136355
  not yet assessed
• <i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study ↗

  Clinical Genetics · 2013 · PMID 23320472
  not yet assessed
• Structural Variation-Associated Expression Changes Are Paralleled by Chromatin Architecture Modifications ↗

  PLoS ONE · 2013 · PMID 24265791
  not yet assessed
• Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data ↗

  Bioinformatics · 2013 · PMID 24255646
  not yet assessed
• An integrated encyclopedia of DNA elements in the human genome ↗

  Nature · 2012 · PMID 22955616
  not yet assessed
• Landscape of transcription in human cells ↗

  Nature · 2012 · PMID 22955620
  not yet assessed
• An integrated encyclopedia of DNA elements in the human genome

  The Journal of the American Medical Association (JAMA) Network (American Medical Association) · 2012
  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
• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders ↗

  Journal of Medical Genetics · 2012 · PMID 23054248
  not yet assessed
• The GENCODE pseudogene resource ↗

  Genome biology · 2012 · PMID 22951037
  not yet assessed
• Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells ↗

  PLoS ONE · 2012 · PMID 22238572
  not yet assessed
• Multifocal Epithelial Tumors and Field Cancerization from Loss of Mesenchymal CSL Signaling ↗

  Cell · 2012 · PMID 22682244
  not yet assessed
• The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome ↗

  PLoS ONE · 2012 · PMID 22792322
  not yet assessed
• The Tripartite Motif ↗

  Advances in experimental medicine and biology · 2012 · PMID 23630997
  not yet assessed
• A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish ↗

  PLoS ONE · 2012 · PMID 23118857
  not yet assessed
• 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay ↗

  European Journal of Medical Genetics · 2012 · PMID 22370062
  not yet assessed
• GENCODE: The reference human genome annotation for The ENCODE Project ↗

  Genome Research · 2012 · PMID 22955987
  not yet assessed
• Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome ↗

  Genome Research · 2012 · PMID 22955982
  not yet assessed
• Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells

  RECERCAT (Consorci de Serveis Universitaris de Catalunya) · 2012
  not yet assessed
• A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo ↗

  PLoS Biology · 2011 · PMID 21267068
  not yet assessed
• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ↗

  Nature · 2011 · PMID 21881559
  not yet assessed
• Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients ↗

  Orphanet Journal of Rare Diseases · 2011 · PMID 21658225
  not yet assessed
• The Origins, Evolution, and Functional Potential of Alternative Splicing in Vertebrates ↗

  Molecular Biology and Evolution · 2011 · PMID 21551269
  not yet assessed
• Detecting Long-Range Chromatin Interactions Using the Chromosome Conformation Capture Sequencing (4C-seq) Method ↗

  Methods in molecular biology · 2011 · PMID 21938629
  not yet assessed
• Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome ↗

  PLoS Computational Biology · 2011 · PMID 21304579
  not yet assessed
• Structural Variation and Its Effect on Expression ↗

  Methods in molecular biology · 2011 · PMID 22228012
  not yet assessed
• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ↗

  Archive ouverte UNIGE (University of Geneva) · 2011
  not yet assessed
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 ↗

  Nature · 2010 · PMID 20130649
  not yet assessed
• Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ↗

  PLoS Biology · 2010 · PMID 21124890
  not yet assessed
• A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 20425838
  not yet assessed
• The effect of translocation-induced nuclear reorganization on gene expression ↗

  Genome Research · 2010 · PMID 20212020
  not yet assessed
• Copy number variation modifies expression time courses ↗

  Genome Research · 2010 · PMID 21084671
  not yet assessed
• The GENCODE human gene set ↗

  Genome biology · 2010
  not yet assessed
• Copy number variations and chromatin structure ↗

  New Biotechnology · 2010
  not yet assessed
• RGASP: assessment of gene-finding tools in the high-throughput era ↗

  F1000Research · 2010
  not yet assessed
• The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution ↗

  Science · 2009 · PMID 19390049
  not yet assessed
• Copy number variants, diseases and gene expression ↗

  Human Molecular Genetics · 2009 · PMID 19297395
  not yet assessed
• Segmental copy number variation shapes tissue transcriptomes ↗

  Nature Genetics · 2009 · PMID 19270705
  not yet assessed
• An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient ↗

  European Journal of Human Genetics · 2009 · PMID 19568270
  not yet assessed
• Identifying protein-coding genes in genomic sequences ↗

  Genome biology · 2009 · PMID 19226436
  not yet assessed
• Variation in novel exons (RACEfrags) of the<i>MECP2</i>gene in Rett syndrome patients and controls ↗

  Human Mutation · 2009 · PMID 19562714
  not yet assessed
• Genome structure and expression ↗

  ˜The œbiomedical & life sciences collection. · 2009
  not yet assessed
• Elimination urinaire des hormones 17-céto-stéroïdes chez les individus normaux et chez les individus cancéreux ↗

  Oncology · 2009
  not yet assessed
• Panartérite pulmonaire subaiguë nécrosante diffuse des lobes inférieurs ↗

  Medicina Thoracalis · 2009
  not yet assessed
• Society Transactions – Sociétés – Gesellschaftsberichte ↗

  Acta Haematologica · 2009
  not yet assessed
• Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 ↗

  The American Journal of Human Genetics · 2008 · PMID 18565486
  not yet assessed
• Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome ↗

  Human Molecular Genetics · 2008 · PMID 18469339
  not yet assessed
• Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase ↗

  European Journal of Human Genetics · 2008 · PMID 18398435
  not yet assessed
• Efficient targeted transcript discovery via array-based normalization of RACE libraries ↗

  Nature Methods · 2008 · PMID 18500348
  not yet assessed
• Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells ↗

  Genome biology · 2008 · PMID 19055709
  not yet assessed
• L’hypertension pulmonaire dite essentielle ↗

  Cardiologia · 2008 · PMID 13663049
  not yet assessed
• Register rerum ad Vol. XXXIV ↗

  Cardiologia · 2008
  not yet assessed
• Contents, Vol. 34, 1959 ↗

  Cardiologia · 2008
  not yet assessed
• Register nominum ad Vol. XXXIV ↗

  Cardiologia · 2008
  not yet assessed
• Freie Vereinigung der Schweizer Pathologen/Association libre des Pathologistes Suisse ↗

  Schweizerische Zeitschrift für allgemeine Pathologie und Bakteriologie · 2008
  not yet assessed
• Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project ↗

  Nature · 2007 · PMID 17571346
  not yet assessed
• The implications of alternative splicing in the ENCODE protein complement ↗

  Proceedings of the National Academy of Sciences · 2007 · PMID 17372197
  not yet assessed
• Side effects of genome structural changes ↗

  Current Opinion in Genetics & Development · 2007 · PMID 17913489
  not yet assessed
• Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution ↗

  Genome Research · 2007 · PMID 17568002
  not yet assessed
• Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions ↗

  Genome Research · 2007 · PMID 17567994
  not yet assessed
• Structured RNAs in the ENCODE selected regions of the human genome ↗

  Genome Research · 2007 · PMID 17568003
  not yet assessed
• Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 ↗

  Genome Research · 2007 · PMID 17895424
  not yet assessed
• GENCODE: producing a reference annotation for ENCODE ↗

  Genome biology · 2006 · PMID 16925838
  not yet assessed
• Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes ↗

  The American Journal of Human Genetics · 2006 · PMID 16826523
  not yet assessed
• EGASP: the human ENCODE Genome Annotation Assessment Project. ↗

  Genome biology · 2006 · PMID 16925836
  not yet assessed
• [Screening for anti-glycolipid antibody profiles from patients with immune-mediated peripheral neuropathies by Dotzen Ganglio Profile Antibodies]. ↗

  PubMed · 2006 · PMID 16556525
  not yet assessed
• The future is genome-wide ↗

  Genome biology · 2006 · PMID 16934105
  not yet assessed
• Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability.

  2006
  not yet assessed
• Emergence of Young Human Genes after a Burst of Retroposition in Primates ↗

  PLoS Biology · 2005 · PMID 16201836
  not yet assessed
• Conserved non-genic sequences — an unexpected feature of mammalian genomes ↗

  Nature Reviews Genetics · 2005 · PMID 15716910
  not yet assessed
• Conserved noncoding sequences are selectively constrained and not mutation cold spots ↗

  Nature Genetics · 2005 · PMID 16380714
  not yet assessed
• LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes ↗

  Human Molecular Genetics · 2005 · PMID 15987703
  not yet assessed
• Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations ↗

  PLoS Genetics · 2005 · PMID 16244706
  not yet assessed
• Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions ↗

  Journal of Medical Genetics · 2005 · PMID 15994861
  not yet assessed
• A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein ↗

  Human Genetics · 2005 · PMID 16021470
  not yet assessed
• Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro ↗

  Human Mutation · 2005 · PMID 15880785
  not yet assessed
• Gene finding in the chicken genome ↗

  BMC Bioinformatics · 2005 · PMID 15924626
  not yet assessed
• Tandem chimerism as a means to increase protein complexity in the human genome ↗

  Genome Research · 2005 · PMID 16344564
  not yet assessed
• A response to Suzuki et al. ?How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1 in Knobloch syndrome?? ↗

  Human Mutation · 2005
  not yet assessed
• Gene findin g in the chicken genome

  Archive ouverte UNIGE (University of Geneva) · 2005
  not yet assessed
• Chromosome 21, Disorders ↗

  2005
  not yet assessed
• Chromosome 21 and Down syndrome: from genomics to pathophysiology ↗

  Nature Reviews Genetics · 2004 · PMID 15510164
  not yet assessed
• The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3 ↗

  Human Molecular Genetics · 2004 · PMID 15163635
  not yet assessed
• The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development ↗

  Genomics · 2004 · PMID 15233996
  not yet assessed
• Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment ↗

  Genome Research · 2004 · PMID 15078857
  not yet assessed
• DNA sequence evolution and phylogenetic footprinting. ↗

  CABI Publishing eBooks · 2004
  not yet assessed
• The TPTE gene family: cellular expression, subcellular localization and alternative splicing ↗

  Gene · 2003 · PMID 14659893
  not yet assessed
• Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs) ↗

  Science · 2003 · PMID 14526086
  not yet assessed
• Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin ↗

  Human Mutation · 2003 · PMID 14695535
  not yet assessed
• Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes ↗

  Proceedings of the National Academy of Sciences · 2003 · PMID 12552088
  not yet assessed
• Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 ↗

  Gene · 2003 · PMID 14597386
  not yet assessed
• Chromosome 21 and Down Syndrome: The Post-Sequence Era ↗

  Cold Spring Harbor Symposia on Quantitative Biology · 2003 · PMID 15338645
  not yet assessed
• Expression atlas of the mouse orthologues of the Williams-Beuren syndrome critical region genes

  IRIS UNIMORE (University of Modena and Reggio Emilia) · 2003
  not yet assessed
• Evolutionary discrimination of conserved non-genic sequences (CNGs)

  Science · 2003
  not yet assessed
• Initial sequencing and comparative analysis of the mouse genome ↗

  Nature · 2002 · PMID 12466850
  not yet assessed
• Numerous potentially functional but non-genic conserved sequences on human chromosome 21 ↗

  Nature · 2002 · PMID 12466853
  not yet assessed
• Human chromosome 21 gene expression atlas in the mouse ↗

  Nature · 2002 · PMID 12466854
  not yet assessed
• Identification of additional transcripts in the Williams-Beuren syndrome critical region ↗

  Human Genetics · 2002 · PMID 12073013
  not yet assessed
• TRIM9 is specifically expressed in the embryonic and adult nervous system ↗

  Mechanisms of Development · 2002 · PMID 11960705
  not yet assessed
• Chromosome 21: a small land of fascinating disorders with unknown pathophysiology ↗

  The International Journal of Developmental Biology · 2002 · PMID 11902692
  not yet assessed
• Nineteen Additional Unpredicted Transcripts from Human Chromosome 21 ↗

  Genomics · 2002 · PMID 12036297
  not yet assessed
• Human chromosome 21 gene expression atlas in the mouse.

  IRIS UNIMORE (University of Modena and Reggio Emilia) · 2002
  not yet assessed
• The tripartite motif family identifies cell compartments ↗

  The EMBO Journal · 2001 · PMID 11331580
  not yet assessed
• The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family ↗

  Human Genetics · 2001 · PMID 11810268
  not yet assessed
• Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas–a possible mechanism for altering the nm23-H1 activity ↗

  Oncogene · 2001 · PMID 11687967
  not yet assessed
• From PREDs and Open Reading Frames to cDNA Isolation: Revisiting the Human Chromosome 21 Transcription Map ↗

  Genomics · 2001 · PMID 11707072
  not yet assessed
• The topographical expression map of chromosome 21 genes.

  Iris Unimore (University of Modena and Reggio Emilia) · 2001
  not yet assessed
• Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? ↗

  Oncogene · 2000 · PMID 10918583
  not yet assessed
• Evidence for interaction between human PRUNE and nm23-H1 NDPKinase ↗

  Oncogene · 1999 · PMID 10602478
  not yet assessed
• Functional genomics of the B-box gene family reveals a possible role in subcellular compartmentalization

  Institutional Research Information System University of Ferrara (University of Ferrara) · 1999
  not yet assessed
• Evidence for interaction teraction between human PRUNE nand nm23-H1 NDP kinase

  Oncogene · 1999
  not yet assessed
• Molecular Cloning and Characterization of a Novel Retinoblastoma-Binding Protein ↗

  Genomics · 1998 · PMID 9721205
  not yet assessed
• [Parietal endocarditis, pulmonary aneurysms, recurring thrombophlebitis]. ↗

  PubMed · 1998 · PMID 14450154
  not yet assessed
• The Human ROX Gene: Genomic Structure and Mutation Analysis in Human Breast Tumors ↗

  Genomics · 1998 · PMID 9598315
  not yet assessed
• Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor ↗

  The EMBO Journal · 1997
  not yet assessed
• The S. pombe cdc15 gene is a key element in the reorganization of F-actin at mitosis ↗

  Cell · 1995 · PMID 7634333
  not yet assessed
• p16 proteins from melanoma-prone families are deficient in binding to Cdk4. ↗

  PubMed · 1995 · PMID 7566978
  not yet assessed
• Barbastella barbastellus ↗

  Birkhäuser Basel eBooks · 1995
  not yet assessed
• The S. pombe cdc16 gene is required both for maintenance of p34cdc2 kinase activity and regulation of septum formation: a link between mitosis and cytokinesis? ↗

  The EMBO Journal · 1993 · PMID 8334988
  not yet assessed
• The activity of S.pombe DSC‐1‐like factor is cell cycle regulated and dependent on the activity of p34cdc2. ↗

  The EMBO Journal · 1993 · PMID 8223442
  not yet assessed
• Cytoskeletal and DNA structure abnormalities result from bypass of requirement for the <i>cdc10</i> start gene in the fission yeast <i>Schizosaccharomyces pombe</i> ↗

  Journal of Cell Science · 1992 · PMID 1522142
  not yet assessed
• Mutations in the cdc10 start gene of Schizosaccbaromyces pombe implicate the region of homology between cdc10 and SWl6 as important for p85cdc10 function ↗

  Molecular and General Genetics MGG · 1992 · PMID 1406591
  not yet assessed
• AN ELECTRON MICROSCOPE STUDY OF THE FETAL DEVELOPMENT OF HUMAN LUNG ↗

  PEDIATRICS · 1963 · PMID 14084339
  not yet assessed
• PULMONARY EPITHELIUM IN THE HUMAN FETUS AND NEWBORN ↗

  Elsevier eBooks · 1962
  not yet assessed
• Two Cases of Foetal and Neonatal Listeriosis.

  1959
  not yet assessed
• [Treatment of malignant tumors of the testicles]. ↗

  PubMed · 1959 · PMID 13653580
  not yet assessed
• [Role of bacterial allergy in the pathogenesis of certain vasculites]. ↗

  PubMed · 1956 · PMID 13351591
  not yet assessed
• [Prematurity and perinatal pathology]. ↗

  PubMed · 1956 · PMID 13408798
  not yet assessed
• [Urinary secretion of 17-ketosteroids in normal and cancerous persons]. ↗

  PubMed · 1951 · PMID 14853451
  not yet assessed
• Excrétion des 17-cétostéroïdes chez l'homme normal ↗

  Cellular and Molecular Life Sciences · 1950
  not yet assessed
• New affection of the hematopoietic system. ↗

  PubMed · 1947 · PMID 20342188
  not yet assessed
• Megalocytic anemia resistant to hepatic treatment during Bang disease. ↗

  PubMed · 1947 · PMID 20296861
  not yet assessed
• Treatment of Brucella Infection.

  1946
  not yet assessed
• Craniopharyngioma and Differential Diagnosis Of Suprasellar Affections. ↗

  PubMed · 1945 · PMID 21018033
  not yet assessed