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Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Expanding MNS1 Heterotaxy PhenotypeJulien Maraval, Andrée Delahaye-Duriez, Caroline Racine, et al.
Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.
BMJ Open|January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDaphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.
Frontiers in Molecular Neuroscience|October 24, 2022
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disordersAfif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Orphanet Journal of Rare Diseases|August 5, 2021
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in FranceClaude Messiaen, Caroline Racine, Ahlem Khatim, et al.
Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.
Human Genetics|May 14, 2020
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disordersFrederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, et al.
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