Bernt Popp

Bernt Popp

Universität Leipzig - Leipzig / Germany
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1785547
Leipzig University
person_outline Bernt Popp's MOST POPULAR ARTICLES
1-) Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability The American Journal of Human Genetics 90 (3), 565-572, 2012
2-) Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Genetics in Medicine 20 (6), 630-638, 2018
3-) Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function Human mutation 41 (4), 837-849, 2020
4-) De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females European Journal of Human Genetics 23 (5), 602-609, 2015
5-) Expanding the phenotype associated with NAA10‐related N‐terminal acetylation deficiencyC Saunier, SI Støve, B Popp, B Gérard, M Blenski, N AhMew, C De Bie, ...Human mutation 37 (8), 755-764, 2016992016