עקוב אחר
Hilary Martin
Hilary Martin
Group Leader, Wellcome Sanger Institute
כתובת אימייל מאומתת בדומיין sanger.ac.uk - דף הבית
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
16102021
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
8512021
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
6572021
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
5342020
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
5122020
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
4482015
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
4192011
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
3372018
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
3102022
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
2992022
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
2872014
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
2472016
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
2022010
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
2002018
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
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
1712014
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
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
1632014
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
1622013
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
1452022
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מאמרים 1–20