Geraldine Malone

Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

NICHOLAS H. SHARER, Martin Schwarz, Geraldine Malone et al. · New England Journal of Medicine · 1998 · 963 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

Richard M. Ferrie, Martin Schwarz, N. H. Robertson et al. · PubMed · 1992 · 248 citations

Life Sciences, Genetics, Molecular Genetics +15

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 146 citations

Life Sciences, Genetics, Molecular Genetics +11

Active cascade testing for carriers of cystic fibrosis gene

M Super, Martin Schwarz, Geraldine Malone et al. · BMJ · 1994 · 97 citations

Life Sciences, Genetics, Molecular Genetics +17

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Víctor Faùndes, Geraldine Malone, William G. Newman et al. · Journal of Human Genetics · 2018 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11