Sally Ann Lynch

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 538 citations · Full text

Ocular Disease, Ophthalmology, Genetics +4

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations · Full text

Arthrogryposis–renal Dysfunction–cholestasis, Renal Pathology, Pathology +6

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle et al. · The American Journal of Human Genetics · 2008 · 328 citations · Full text

Meckel-gruber-like Syndrome, Developmental Biology, Renal-hepatic-pancreatic Dysplasia +7