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Genes|November 25, 2023
The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate PathwaysLaura Marie-Hardy, Thomas Courtin, Hugues Pascal-Moussellard, et al.
Orthopaedics & Traumatology, Surgery & Research : OTSR|March 17, 2025
How is familial idiopathic scoliosis transmitted? Analysis of 26 pedigreesSerge Zakine, Hugo Marty, Thomas Courtin, et al.
Epilepsia Open|February 20, 2025
GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisalGiovanna Scorrano, Giulia Barcia, Jérôme Champ, et al.
European Journal of Medical Genetics|September 2, 2021
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literatureMarion Lesieur-Sebellin, Yline Capri, Margot Grisval, et al.
Annals of Neurology|March 11, 2023
Differences in Survival across Monogenic Forms of Parkinson's DiseaseAymeric Lanore, Fanny Casse, Christelle Tesson, et al.
HGG Advances|October 18, 2024
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophyMatis Crespin, Karine Siquier-Pernet, Pauline Marzin, et al.
Science Advances|September 12, 2020
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disordersDavid Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, et al.
Movement Disorders Clinical Practice|April 18, 2023
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of ParkinsonismFanny Casse, Thomas Courtin, Christelle Tesson, et al.
American Journal of Medical Genetics. Part A|December 29, 2019
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONOMaham Sewani, Kimberly Nugent, Patrick R Blackburn, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
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