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 · 892 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16