A. Bourchany

发表

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Optimization of biologics to reduce treatment failure in inflammatory bowel diseases.

F. Barreau, A. Breton, E. Mas, 2020, Current opinion in pharmacology.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

DOZ047.22: FEED-EASY: feeding disorders in children with esophageal atresia study

E. Dugelay, L. Michaud, M. Bellaiche, 2019, Diseases of the Esophagus.

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.