B. Linnenkamp

A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.

S. Raskin, R. Herai, B. Linnenkamp, 2020, Mutation research.

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

C. Kim, G. Yamamoto, D. Bertola, 2022, American journal of medical genetics. Part A.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

C. Kim, D. Bertola, R. Honjo, 2020, Arquivos de Neuro-Psiquiatria.

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

M. Passos-Bueno, M. Warman, Philippe M. Campeau, 2023, Journal of Medical Genetics.