|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
|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), 717-726, 2015
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Evidence for 28 genetic disorders discovered by combining healthcare and research data|
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
|Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations|
MH Chen, LM Raffield, A Mousas, S Sakaue, JE Huffman, A Moscati, ...
Cell 182 (5), 1198-1213. e14, 2020
|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
|Evaluating drug targets through human loss-of-function genetic variation|
EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ...
Nature 581 (7809), 459-464, 2020
|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