Hilary Martin
Hilary Martin
Group Leader, Wellcome Sanger Institute
Verified email at sanger.ac.uk - Homepage
TitleCited byYear
MicroRNAs and their isomiRs function cooperatively to target common biological pathways
N Cloonan, S Wani, Q Xu, J Gu, K Lea, S Heater, C Barbacioru, ...
Genome biology 12 (12), R126, 2011
2672011
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717, 2015
1932015
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
1682014
Geographical genomics of human leukocyte gene expression variation in southern Morocco
Y Idaghdour, W Czika, KV Shianna, SH Lee, PM Visscher, HC Martin, ...
Nature genetics 42 (1), 62, 2010
1392010
miR-139-5p is a regulator of metastatic pathways in breast cancer
K Krishnan, AL Steptoe, HC Martin, DR Pattabiraman, K Nones, ...
Rna 19 (12), 1767-1780, 2013
1132013
MicroRNA-182-5p targets a network of genes involved in DNA repair
K Krishnan, AL Steptoe, HC Martin, S Wani, K Nones, N Waddell, ...
RNA 19 (2), 230-242, 2013
1052013
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
JB Cazier, SR Rao, CM McLean, AK Walker, BJ Wright, EEM Jaeger, ...
Nature communications 5, 3756, 2014
1042014
Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs
HC Martin, S Wani, AL Steptoe, K Krishnan, K Nones, E Nourbakhsh, ...
Genome biology 15 (3), R51, 2014
902014
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
J Li, SL Woods, S Healey, J Beesley, X Chen, JS Lee, H Sivakumaran, ...
The American Journal of Human Genetics 98 (5), 830-842, 2016
672016
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
H Mbarek, S Steinberg, DR Nyholt, SD Gordon, MB Miller, AF McRae, ...
The American Journal of Human Genetics 98 (5), 898-908, 2016
602016
Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels
GE Kim, J Kronengold, G Barcia, IH Quraishi, HC Martin, E Blair, ...
Cell reports 9 (5), 1661-1672, 2014
602014
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
PA van Schouwenburg, EE Davenport, AK Kienzler, I Marwah, B Wright, ...
Clinical Immunology 160 (2), 301-314, 2015
552015
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ...
Nature 562 (7726), 268, 2018
462018
Linear mixed model for heritability estimation that explicitly addresses environmental variation
D Heckerman, D Gurdasani, C Kadie, C Pomilla, T Carstensen, H Martin, ...
Proceedings of the National Academy of Sciences 113 (27), 7377-7382, 2016
372016
Quantifying the contribution of recessive coding variation to developmental disorders
HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ...
Science 362 (6419), 1161-1164, 2018
242018
Evolution of a Membrane Protein Regulon in Saccharomyces
HC Martin, JI Roop, JG Schraiber, TY Hsu, RB Brem
Molecular biology and evolution 29 (7), 1747-1756, 2012
202012
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, JB Cazier, J Jung, ...
Mucosal immunology 11 (2), 562, 2018
192018
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
F Ceroni, NH Simpson, C Francks, G Baird, G Conti-Ramsden, A Clark, ...
European Journal of Human Genetics 22 (10), 1165, 2014
172014
Multicohort analysis of the maternal age effect on recombination
HC Martin, R Christ, JG Hussin, J O’Connell, S Gordon, H Mbarek, ...
Nature communications 6, 7846, 2015
132015
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability
B Davies, LA Brown, O Cais, J Watson, AJ Clayton, VT Chang, D Biggs, ...
Human molecular genetics 26 (20), 3869-3882, 2017
112017
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