CHARGE and Kabuki syndromes: a phenotypic and molecular linkYvonne Schulz, Silke Pauli, Nina Bögershausen et al.|Human Molecular Genetics|2014Cited by 68
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G. Drivas, Lot Snijders Blok, Dong Li et al.|European Journal of Human Genetics|2020Cited by 52
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort studyPauline Hägele, B. Buchholz, Paulina Staus et al.|The Lancet Haematology|2024Cited by 18