S. E. Chehadeh

发表

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling

C. Depienne, B. Poppe, D. Hemelsoet, 2021, bioRxiv.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

J. Casanova, U. Kölsch, R. Krüger, 2022, Journal of Clinical Immunology.

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2013, PloS one.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

C. Coutant, C. Lepage, T. Frebourg, 2013, European Journal of Human Genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene

L. Faivre, S. E. Chehadeh, Hélène Poquet, 2017 .

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

L. Vallée, J. Thevenon, L. Faivre, 2014, American journal of medical genetics. Part A.

Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease

S. Julia, J. Thevenon, C. Philippe, 2017, Clinical genetics.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.