Christel Thauvin‐Robinet

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou et autres

fr (code pays fourni par la source)

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing

M Favier, Rodolph Dard, G. Gorincour, Aude Tessier et autres

fr (code pays fourni par la source)

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė et autres

ca, fr, it, es, gb, us, nl, nz, au, dk (code pays fourni par la source)

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D

Mylène Tharreau, Aurore Garde, Sandrine Marlin, Godeliève Morel et autres

fr, gb (code pays fourni par la source)

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

Yanni Andreou, Christel Thauvin‐Robinet, J. Antonio Alonso Martín, Laurence Faivre et autres

fr (code pays fourni par la source)

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

Frédéric Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel et autres

fr (code pays fourni par la source)

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

Jean‐Marie Ravel, Natacha Dreumont, Pauline Mosca, Desirée E.C. Smith et autres

fr, nl (code pays fourni par la source)

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18

Nawale Hadouiri, Quentin Thomas, Véronique Darmency, Véronique Dulieu et autres

fr (code pays fourni par la source)

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

Leïla Ghesh, Thomas Besnard, Mathilde Nizon, Eva Trochu et autres

fr (code pays fourni par la source)

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Nicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, Hélène Deleersnyder et autres

fr (code pays fourni par la source)

Author response for "Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials"

Aurore Garde, Laurent Guibaud, Alice Goldenberg, Florence Petit et autres

Author response for "Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations"

Aurore Garde, Jenny Cornaton, Arthur Sorlin, Sébastien Moutton et autres