Nadine Sowada

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion

M. Schirmer, R. Siebert, T. Reinehr, 2021, Hormone Research in Paediatrics.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

D. Horn, S. Mundlos, M. Spielmann, 2016, Genome research.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

D. Horn, C. Bergmann, E. Decker, 2018, American journal of medical genetics. Part A.

Mutations of PTPN23 in developmental and epileptic encephalopathy

F. Alkuraya, S. Arold, H. Thiele, 2017, Human Genetics.

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

T. Markello, J. Baron, G. Borck, 2017, Clinical genetics.