Sally Ann Lynch

Overview

Best Publications

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

  Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins

  982
  Citations

• Mutations in SOX2 cause anophthalmia

  Judy Fantes;Nicola K Ragge;Nicola K Ragge;Sally-Ann Lynch;Niolette I McGill

  633
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  499
  Citations

• Task shifting in HIV/AIDS: opportunities, challenges and proposed actions for sub-Saharan Africa

  R. Zachariah;N. Ford;M. Philips;S.Lynch

  487
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

• 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;Valeska Frank

  379
  Citations

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

  P Gissen;P Gissen;C A Johnson;N Morgan;J M Stapelbroek

  359
  Citations

• Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

  Jeremy Peter Cheadle;Harinder Gill;Nick Fleming;Julie Helen Maynard

  335
  Citations

• 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;Christian Gilissen

  331
  Citations

• A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

  Alison J. Ross;Victor Ruiz-Perez;Yiming Wang;Donna Marie Hagan

  328
  Citations

• RAD21 Mutations Cause a Human Cohesinopathy

  Matthew A. Deardorff;Matthew A. Deardorff;Jonathan J. Wilde;Melanie Albrecht;Emma Dickinson

  318
  Citations

• Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

  Florence Kyndt;Jean-Pierre Gueffet;Vincent Probst;Philippe Jaafar

  318
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

• Autosomal dominant sacral agenesis: Currarino syndrome

  Sally Ann Lynch;Yiming Wang;T Strachan;John Burn

  252
  Citations

• Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

  Jill Clayton-Smith;James O'Sullivan;Sarah Daly;Sanjeev Bhaskar

  230
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• Mutations in TCF12 , encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

  Vikram P Sharma;Aimée L Fenwick;Mia S Brockop;Mia S Brockop;Simon J McGowan

  219
  Citations

• How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

  Siddharth Banka;Ratna Veeramachaneni;William Reardon;Emma Howard

  203
  Citations

• Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population

  C L Relton;C S Wilding;M S Pearce;A J Laffling

  198
  Citations

• Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

  Morad Ansari;Gemma Poke;Quentin Ferry;Kathleen Williamson

  180
  Citations