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I Karen Temple
I Karen Temple
Verified email at soton.ac.uk - Homepage
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Cited by
Year
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes
AL Gloyn, ER Pearson, JF Antcliff, P Proks, GJ Bruining, AS Slingerland, ...
New England Journal of Medicine 350 (18), 1838-1849, 2004
14402004
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8782017
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7422015
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
DJG Mackay, JLA Callaway, SM Marks, HE White, CL Acerini, SE Boonen, ...
Nature genetics 40 (8), 949-951, 2008
5772008
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
4712009
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ...
Nature Reviews Endocrinology 13 (2), 105-124, 2017
4622017
Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases
M Elliott, R Bayly, T Cole, IK Temple, ER Maher
Clinical genetics 46 (2), 168-174, 1994
4061994
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3642021
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown, J Douglas, K Coleman, G Baujat, TRP Cole, S Das, ...
The American Journal of Human Genetics 77 (2), 193-204, 2005
3582005
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
E De Franco, SE Flanagan, JAL Houghton, HL Allen, DJG Mackay, ...
The Lancet 386 (9997), 957-963, 2015
3572015
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
IK Temple, RJ Gardner, DJ Mackay, JC Barber, DO Robinson, JP Shield
Diabetes 49 (8), 1359-1366, 2000
3402000
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
K Tatton-Brown, S Seal, E Ruark, J Harmer, E Ramsay, ...
Nature genetics 46 (4), 385-388, 2014
3392014
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
J Douglas, S Hanks, IK Temple, S Davies, A Murray, M Upadhyaya, ...
The American Journal of Human Genetics 72 (1), 132-143, 2003
3192003
3D analysis of facial morphology
P Hammond, TJ Hutton, JE Allanson, LE Campbell, RCM Hennekam, ...
American journal of medical genetics Part A 126 (4), 339-348, 2004
2992004
Transient neonatal diabetes, a disorder of imprinting
IK Temple, JPH Shield
Journal of medical genetics 39 (12), 872-875, 2002
2812002
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
LS Bicknell, EMHF Bongers, A Leitch, S Brown, J Schoots, ME Harley, ...
Nature genetics 43 (4), 356-359, 2011
2702011
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
J Bliek, G Verde, J Callaway, SM Maas, A De Crescenzo, A Sparago, ...
European Journal of Human Genetics 17 (5), 611-619, 2009
2662009
An imprinted locus associated with transient neonatal diabetes mellitus
RJ Gardner, DJG Mackay, AJ Mungall, C Polychronakos, R Siebert, ...
Human molecular genetics 9 (4), 589-596, 2000
2652000
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
SM Gribble, E Prigmore, DC Burford, KM Porter, BL Ng, EJ Douglas, ...
Journal of medical genetics 42 (1), 8-16, 2005
2452005
Maternal uniparental disomy for chromosome 14.
IK Temple, A Cockwell, T Hassold, D Pettay, P Jacobs
Journal of medical genetics 28 (8), 511-514, 1991
2311991
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Articles 1–20