Sally Ann Lynch

Research interests

Publications

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

  Nature · 2020 · https://doi.org/10.1038/s41586-020-2832-5

• Quantifying the contribution of recessive coding variation to developmental disorders

  Science · 2018 · https://doi.org/10.1126/science.aar6731

• Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

  Biological Psychiatry · 2018 · https://doi.org/10.1016/j.biopsych.2018.02.1173

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

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.07.004

• Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

  Epilepsia · 2015 · https://doi.org/10.1111/epi.13250

• Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

  Human Molecular Genetics · 2014 · https://doi.org/10.1093/hmg/ddu002

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

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2531

• RAD21 Mutations Cause a Human Cohesinopathy

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.04.019

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

  European Journal of Human Genetics · 2011 · https://doi.org/10.1038/ejhg.2011.220

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

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.05.012

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

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.10.008

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

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2008.02.017

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/521373

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

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1845

• Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

  Circulation · 2006 · https://doi.org/10.1161/circulationaha.106.622621

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

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1325

• Mutations in SOX2 cause anophthalmia

  Nature Genetics · 2003 · https://doi.org/10.1038/ng1120

• Autosomal dominant sacral agenesis: Currarino syndrome

  Journal of Medical Genetics · 2000 · https://doi.org/10.1136/jmg.37.8.561

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

  Nature Genetics · 1998 · https://doi.org/10.1038/3828

Current projects

No projects listed.