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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Journal of neurology, 2022-05, Vol.269 (5), p.2414-2429

2022

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Nucleic acids research, 2009-05, Vol.37 (9), p.e67

2009

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Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

Clinical cancer research, 2006-01, Vol.12 (1), p.62-69

2006

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Highlighting the Dystonic Phenotype Related to GNAO1

Movement disorders, 2022-07, Vol.37 (7), p.1547-1554

2022

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Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma

Carcinogenesis (New York), 2002-05, Vol.23 (5), p.759-768

2002

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VarAFT: a variant annotation and filtration system for human next generation sequencing data

Nucleic acids research, 2018-07, Vol.46 (W1), p.W545

2018

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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

American journal of human genetics, 2018-09, Vol.103 (3), p.413-420

2018

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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Human mutation, 2016-05, Vol.37 (5), p.439-446

2016

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Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

Hepatology (Baltimore, Md.), 2004-03, Vol.39 (3), p.792-797

2004

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Assessing TP53 status in human tumours to evaluate clinical outcome

Nature reviews. Cancer, 2001-12, Vol.1 (3), p.233-239

2001

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Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

Human mutation, 2018-06, Vol.39 (6), p.774-789

2018

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

Journal of the American College of Cardiology, 2020-03, Vol.75 (8), p.843-853

2020

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The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

Human mutation, 2023-06, Vol.2023, p.1-22

2023

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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of general internal medicine : JGIM, 2014-08, Vol.29 (Suppl 3), p.780-787

2014

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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

The journal of clinical endocrinology and metabolism, 2019-03, Vol.104 (3), p.753-764

2019

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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Metabolism, clinical and experimental, 2017-06, Vol.71, p.213-225

2017

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Aortic Event Rate in the Marfan Population: A Cohort Study

Circulation (New York, N.Y.), 2012-01, Vol.125 (2), p.226-232

2012

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A mutation in the Gardos channel is associated with hereditary xerocytosis

Blood, 2015-09, Vol.126 (11), p.1273-1280

2015

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Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Journal of the neurological sciences, 2018-08, Vol.391, p.31-39

2018

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Cover Image, Volume 37, Issue 12

Human mutation, 2016-12, Vol.37 (12), p.i-i

2016

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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

Highlighting the Dystonic Phenotype Related to GNAO1

Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders

Assessing TP53 status in human tumours to evaluate clinical outcome

Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

Diagnostic approach to the congenital muscular dystrophies

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

BRCA Share: A Collection of Clinical BRCA Gene Variants

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Aortic Event Rate in the Marfan Population: A Cohort Study

A mutation in the Gardos channel is associated with hereditary xerocytosis

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Hox -dependent coordination of mouse cardiac progenitor cell patterning and differentiation

Cover Image, Volume 37, Issue 12

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