Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly
Nathalie Vanden Eynde, Lucas Hérissant, Emilie Landais, Matthieu Egloff et autres
0 citationsClinical Genetics
Sophie Scheidecker
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57Publications signalées
1342Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genetic and Kidney Cyst DiseasesGenomics and Rare DiseasesHedgehog Signaling Pathway StudiesGenomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting
Publications récentes
MED20 biallelic pathogenic variants cause a neurodevelopmental disorder altering both transcription activity and Transcription-Coupled Repair pathway
Nicolas Le May, Raphaël Leconte, Adriana Alberti, Valeria Ramirez-Ramirez et autres
0 citationsResearch Square
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
Manon Chrétien, Julien Osouf, Carine Abel, Alexandra Afenjar et autres
0 citationsFrontiers in Genetics
Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome
Arnaud Storck, Marie Thérèse Abiwarde, Gaelle Hardy, Anne-Sophie Lèbre et autres
0 citationsClinical Parkinsonism & Related Disorders
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian et autres
1 citationThe American Journal of Human Genetics
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Marion Lesieur‐Sebellin, Kristen Wigby, Élise Schaefer, Aurélie Gouronc et autres
0 citationsJournal of Medical Genetics
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Salima El Chehadeh, Solveig Heide, Chloé Quēlin, Marlène Rio et autres
1 citationGenome Medicine
Les variants bialléliques dans VPS11 : une nouvelle cause de syndrome dystonique
Arnaud Storck, Marie Thérèse Abiwarde, Gaelle Hardy, Sophie Scheidecker et autres
0 citationsRevue Neurologique
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
Sophie Scheidecker, Séverine Bär, Ariane Kröll‐Hermi, Clarisse Delvallée et autres
3 citationsEuropean Journal of Human Genetics
Cytogénétique: du caryotype au génome en pré- et postnatal
Aurélie Gouronc, Sophie Scheidecker, Caroline Schluth‐Bolard
0 citationsRevue Francophone des Laboratoires
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
Sarah Baer, Audrey Schalk, Marguerite Miguet, Élise Schaefer et autres
3 citationsPediatric Neurology
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan et autres
12 citationsAmerican Journal of Medical Genetics Part A
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