H. Feenstra

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2013, American journal of medical genetics. Part A.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

V. Jobanputra, A. Christiano, B. Levy, 2014, PLoS genetics.

Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18

J. Foroutan, J. Gebbia, E. Wang, 2014, Prenatal diagnosis.

Continuous intraperitoneal insulin infusion versus subcutaneous insulin for type 1 diabetes : a prospective, case-control trial proving non-inferiority

R. Gans, H. Bilo, S. Logtenberg, 2014 .

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.