Susan Holder

Mutations of the RET proto-oncogene in Hirschsprung's disease

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan et al. · Nature · 1994 · 755 citations

Medicine, Genetics, Molecular Genetics +12

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Birth Defects Encyclopedia

Susan Holder · Archives of Disease in Childhood · 1991 · 429 citations · Full text

Medicine, Obstetrics, Pediatrics +11

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Adam J. de Smith, Carolin Purmann, Robin Walters et al. · Human Molecular Genetics · 2009 · 355 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15