Séverine Bacrot

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

P. Nitschké, M. Vekemans, T. Attié-Bitach, 2018, Birth defects research.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human mutation.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A. Munnich, P. Lapunzina, V. Cormier-Daire, 2018, Journal of Medical Genetics.

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

F. Vialard, G. Pilu, G. Simoni, 2014, Clinical case reports.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

D. Gisselsson, V. Shanmugasundaram, F. Alkuraya, 2020, The Journal of experimental medicine.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

Utility of genetic testing for prenatal presentations of hypophosphatasia.

E. Colin, A. Zankl, J. Salles, 2021, Molecular genetics and metabolism.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus

A. Munnich, J. Steffann, M. Raynaud, 2019, Prenatal diagnosis.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human Mutation.

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

E. Lewiecki, F. Marini, L. Yao, 2023, Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.