Sally Ann Lynch
Sally Ann Lynch
National Rare Disease Office Mater Hospital, Dublin
Verified email at ucd.ie
Title
Cited by
Cited by
Year
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ...
Nature genetics 38 (8), 917-920, 2006
7012006
Mutations in SOX2 cause anophthalmia
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ...
Nature genetics 33 (4), 462-463, 2003
5462003
Task shifting in HIV/AIDS: opportunities, challenges and proposed actions for sub-Saharan Africa
R Zachariah, N Ford, M Philips, S Lynch, M Massaquoi, V Janssens, ...
Transactions of the Royal Society of Tropical Medicine and Hygiene 103 (6 …, 2009
4162009
Prevalence and architecture of de novo mutations in developmental disorders
DDD Study, JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, ...
Nature 542 (7642), 433, 2017
3752017
Large-scale discovery of novel genetic causes of developmental disorders
TDDD Study, TW Fitzgerald, SS Gerety, WD Jones, M van Kogelenberg, ...
Nature 519 (7542), 223, 2015
3632015
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
3262007
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
C Bergmann, M Fliegauf, NO Brüchle, V Frank, H Olbrich, J Kirschner, ...
The American Journal of Human Genetics 82 (4), 959-970, 2008
3102008
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ...
Nature genetics 36 (4), 400-404, 2004
3022004
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
JP Cheadle, H Gill, N Fleming, J Maynard, A Kerr, H Leonard, ...
Human molecular genetics 9 (7), 1119-1129, 2000
2982000
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
AJ Ross, V Ruiz-Perez, Y Wang, DM Hagan, S Scherer, SA Lynch, ...
Nature genetics 20 (4), 358-361, 1998
2881998
RAD21 mutations cause a human cohesinopathy
MA Deardorff, JJ Wilde, M Albrecht, E Dickinson, S Tennstedt, ...
The American Journal of Human Genetics 90 (6), 1014-1027, 2012
2422012
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy
F Kyndt, JP Gueffet, V Probst, P Jaafar, A Legendre, F Le Bouffant, ...
Circulation 115 (1), 40, 2007
2392007
Population based, prospective study of the care of women with epilepsy in pregnancy
SD Fairgrieve, M Jackson, P Jonas, D Walshaw, K White, TL Montgomery, ...
Bmj 321 (7262), 674-675, 2000
2322000
Autosomal dominant sacral agenesis: Currarino syndrome
SA Lynch, Y Wang, T Strachan, J Burn, S Lindsay
Journal of medical genetics 37 (8), 561-566, 2000
2172000
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics 89 (1), 7-14, 2011
1742011
Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population
CL Relton, CS Wilding, MS Pearce, AJ Laffling, PA Jonas, SA Lynch, ...
Journal of medical genetics 41 (4), 256-260, 2004
1742004
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
VP Sharma, AL Fenwick, MS Brockop, SJ McGowan, JAC Goos, ...
Nature genetics 45 (3), 304-307, 2013
1612013
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
SA Lynch, PM Bond, AJ Copp, WO Kirwan, S Nour, R Balling, E Mariman, ...
Nature genetics 11 (1), 93-95, 1995
1571995
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
1512015
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
J Clayton-Smith, J O'Sullivan, S Daly, S Bhaskar, R Day, B Anderson, ...
The American Journal of Human Genetics 89 (5), 675-681, 2011
1482011
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