|Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1|
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
|Factor H mutations in hemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition|
A Richards, MR Buddles, RL Donne, BS Kaplan, E Kirk, MC Venning, ...
The American Journal of Human Genetics 68 (2), 485-490, 2001
|Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy|
EP Kirk, M Sunde, MW Costa, SA Rankin, O Wolstein, ML Castro, ...
The American Journal of Human Genetics 81 (2), 280-291, 2007
|Cardiac homeobox gene NKX2-5mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome|
DA Elliott, EP Kirk, T Yeoh, S Chandar, F McKenzie, P Taylor, P Grossfeld, ...
Journal of the American College of Cardiology 41 (11), 2072-2076, 2003
|Congenital heart disease: current knowledge about causes and inheritance|
GM Blue, EP Kirk, GF Sholler, RP Harvey, DS Winlaw
The Medical Journal of Australia 197 (3), 155-159, 2012
|NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency|
DM Kirby, R Salemi, C Sugiana, A Ohtake, L Parry, KM Bell, EP Kirk, ...
The Journal of clinical investigation 114 (6), 837-845, 2004
|IDH2 mutations in patients with D-2-hydroxyglutaric aciduria|
M Kranendijk, EA Struys, E Van Schaftingen, KM Gibson, WA Kanhai, ...
Science 330 (6002), 336-336, 2010
|Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II|
MMP Hermans, D Leenen, MA Kroos, CE Beesley, AT Van der Ploeg, ...
Human mutation 23 (1), 47-56, 2004
|Expanded newborn screening: outcome in screened and unscreened patients at age 6 years|
B Wilcken, M Haas, P Joy, V Wiley, F Bowling, K Carpenter, ...
Pediatrics 124 (2), e241-e248, 2009
|Dominant missense mutations in ABCC9 cause Cantu syndrome|
M Harakalova, JJT van Harssel, PA Terhal, S van Lieshout, K Duran, ...
Nature genetics 44 (7), 793-796, 2012
|Germline mutation of the tumour suppressor PTEN in Proteus syndrome|
JM Smith, EPE Kirk, G Theodosopoulos, GM Marshall, J Walker, ...
Journal of medical genetics 39 (12), 937-940, 2002
|Rapamycin treatment for a child with germline PTEN mutation|
DJ Marsh, TN Trahair, JL Martin, WY Chee, J Walker, EP Kirk, RC Baxter, ...
Nature clinical practice Oncology 5 (6), 357-361, 2008
|α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects|
JT Granados-Riveron, TK Ghosh, M Pope, F Bu'Lock, C Thornborough, ...
Human molecular genetics 19 (20), 4007-4016, 2010
|Combined mutation screening of NKX2‐5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations|
JT Granados‐Riveron, M Pope, FA Bu'Lock, C Thornborough, J Eason, ...
Congenital heart disease 7 (2), 151-159, 2012
|Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes|
SC Lim, M Friemel, JE Marum, EJ Tucker, DL Bruno, LG Riley, ...
Human molecular genetics 22 (22), 4460-4473, 2013
|Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia|
C Michot, L Hubert, NB Romero, A Gouda, A Mamoune, S Mathew, E Kirk, ...
Journal of inherited metabolic disease 35 (6), 1119-1128, 2012
|Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease|
T Roscioli, ST Cliffe, DB Bloch, CG Bell, G Mullan, PJ Taylor, M Sarris, ...
Nature genetics 38 (6), 620-622, 2006
|Homeodomain factor Nkx2-5 in heart development and disease|
RP Harvey, D Lai, D Elliott, C Biben, M Solloway, O Prall, F Stennard, ...
Cold Spring Harbor symposia on quantitative biology 67, 107-114, 2002
|Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease|
GM Blue, EP Kirk, E Giannoulatou, SL Dunwoodie, JWK Ho, DCK Hilton, ...
Journal of the American College of Cardiology 64 (23), 2498-2506, 2014
|Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders|
LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ...
Genetics in Medicine 20 (12), 1564-1574, 2018