Susan Holder

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

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan et al. · Nature · 1994 · 754 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Birth Defects Encyclopedia

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

Developmental Anomaly, Infertility, Dysplasia +15

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 · 352 citations · Full text

Novel Deletion, Metabolic Disorder, Genetics +19

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9