Jonathan Berg

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

David W. Johnson, Jonathan Berg, Melanie A. Baldwin et al. · Nature Genetics · 1996 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +8

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado et al. · New England Journal of Medicine · 2001 · 724 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 257 citations · Full text

Medicine, Genetics, Oncology +14