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European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.
European Journal of Medical Genetics|November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotypeThalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
European Journal of Medical Genetics|February 12, 2024
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorderLottie D Morison, Olivia Van Reyk, Emma Baker, et al.
Developmental Medicine and Child Neurology|June 21, 2022
Neurological outcome in WDR62 primary microcephalyLyse Ruaud, Séverine Drunat, Monique Elmaleh-Bergès, et al.
Brain : a Journal of Neurology|October 7, 2023
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondriaArnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, et al.
Birth Defects Research|April 15, 2022
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literatureLyse Ruaud, Nathalie Roux, Lucile Boutaud, et al.
European Journal of Medical Genetics|February 3, 2015
DYRK1A mutations in two unrelated patientsLyse Ruaud, Cyril Mignot, Agnès Guët, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
New <i>ZNHIT3</i> Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated HydropsMd Lutfur Rahman, Adeline A Bonnard, Feng Wang, et al.
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
Human Mutation|April 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected CiliopathyAurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, et al.
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