Katherine A. Rauen

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

Pablo Rodriguez‐Viciana, Osamu Tetsu, William E. Tidyman et al. · Science · 2006 · 565 citations

Genetics, Pathology, Molecular Genetics +17

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu et al. · Nature Genetics · 2013 · 315 citations

Developmental Anomaly, Rare Diseases, Somatic Variant +12

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Scott R. Plotkin, Ludwine Messiaen, Eric Legius et al. · Genetics in Medicine · 2022 · 247 citations · Full text

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock, Sara Caylor, Bryce Waldman et al. · The American Journal of Human Genetics · 2021 · 238 citations · Full text

Project Baby Bear, Neonatology, Preventive Pediatrics +8