Get started
Author

Muriel Holder

Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020 · Joanna Kaplanis, Kaitlin E. Samocha, et al. · Nature · 621
PDF
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
2011 · Sébastien Jacquemont, Alexandre Reymond, et al. · Nature · 486
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
2016 · Keren J. Carss, Gavin Arno, et al. · The American Journal of Human Genetics · 475
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
2006 · Corinne Stoetzel, Virginie Laurier, et al. · Nature Genetics · 292
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
2017 · Víctor Faundes, William G. Newman, et al. · The American Journal of Human Genetics · 282
PDF
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
2020 · James E. D. Thaventhiran, Hana Lango Allen, et al. · Nature · 244
PDF
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
2010 · Kristien P Hoornaert, Inge Vereecke, et al. · European Journal of Human Genetics · 156
PDF
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
2017 · Charaka Hadinnapola, Marta Bleda, et al. · Circulation · 150
Delineation of 15q13.3 microdeletions
2010 · A Masurel‐Paulet, J Andrieux, et al. · Clinical Genetics · 148
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 134
PDF
New insights into genotype–phenotype correlation for GLI3 mutations
2014 · Florence Démurger, Amale Ichkou, et al. · European Journal of Human Genetics · 130
PDF
Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort
2010 · Olivier Imhoff, Vincent Marion, et al. · Clinical Journal of the American Society of Nephrology · 129
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 123
PDF
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
2007 · David Baux, Lise Larrieu, et al. · Human Mutation · 101
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
2012 · Mark J. Rieder, Glenn E. Green, et al. · The American Journal of Human Genetics · 98
PDF
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
2019 · Anne H. O’Donnell-Luria, Lynn S. Pais, et al. · The American Journal of Human Genetics · 96
PDF
C5orf42 is the major gene responsible for OFD syndrome type VI
2013 · Estelle Lopez, Christel Thauvin-Robinet, et al. · Human Genetics · 92
The CD2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells
2014 · Elise Pepermans, Vincent Michel, et al. · EMBO Molecular Medicine · 91
PDF
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
2018 · James H. R. Farmery, Mike L. Smith, et al. · Scientific Reports · 89
PDF
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
2017 · Karen L. Stals, Matthew Wakeling, et al. · Prenatal Diagnosis · 77
PDF
The contribution of X-linked coding variation to severe developmental disorders
2021 · Hilary C. Martin, Eugene J. Gardner, et al. · Nature Communications · 72
PDF
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
2018 · Irina T. Zaharieva, Anna Sarkozy, et al. · Human Mutation · 72
PDF
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
2018 · James Whitworth, Philip S. Smith, et al. · The American Journal of Human Genetics · 70
PDF
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
2016 · Maria Tropeano, Deirdre Howley, et al. · Journal of Medical Genetics · 69
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
2013 · Frederic Tran Mau-Them, Marjolaine Willems, et al. · European Journal of Human Genetics · 51
Works count: 64
Citation count: 4,884
H-index: 33
I10-index: 43
Year
Topic
Type