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Hilary Martin
Hilary Martin
Group Leader, Wellcome Sanger Institute
Email verificata su sanger.ac.uk - Home page
Titolo
Citata da
Citata da
Anno
Genome-wide association studies
E Uffelmann, QQ Huang, NS Munung, J de Vries, Y Okada, AR Martin, ...
Nature Reviews Methods Primers 1 (1), 1-21, 2021
15622021
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
8442021
The power of genetic diversity in genome-wide association studies of lipids
SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac, S Ramdas, ...
Nature 600 (7890), 675-679, 2021
6312021
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
5222020
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
5052020
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
4432015
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, 1-20, 2011
4212011
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
3382018
Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
3062022
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
2922014
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo, JB Hirbo, Y Wang, ...
Cell Genomics 2 (10), 2022
2862022
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
2442016
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
1962018
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), 62-67, 2010
1942010
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
1752014
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
1722013
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
1632020
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
1612013
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
1602014
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ...
Genome medicine 14 (1), 1-19, 2022
1412022
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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