| A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids S Ramdas, J Judd, SE Graham, S Kanoni, Y Wang, I Surakka, B Wenz, ... The American Journal of Human Genetics 109 (8), 1366-1387, 2022 | 27 | 2022 |
| 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 | 47 | 2017 |
| A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 24 | 2023 |
| 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 | 116 | 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 | 282 | 2014 |
| Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people S Finer, HC Martin, A Khan, KA Hunt, B MacLaughlin, Z Ahmed, ... International journal of epidemiology 49 (1), 20-21i, 2020 | 96 | 2020 |
| 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 | 306 | 2018 |
| Contribution of autosomal rare and de novo variants to sex differences in autism M Koko, FK Satterstrom, V Warrier, H Martin, ... medRxiv, 2024 | | 2024 |
| Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ... Human molecular genetics 28 (20), 3391-3405, 2019 | 47 | 2019 |
| Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome AT Pagnamenta, PJ Kaisaki, F Bennett, E Burkitt‐Wright, HC Martin, ... Clinical genetics 95 (6), 693-703, 2019 | 50 | 2019 |
| Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders EJ Gardner, A Sifrim, SJ Lindsay, E Prigmore, D Rajan, P Danecek, ... The American Journal of Human Genetics 108 (11), 2186-2194, 2021 | 19 | 2021 |
| Discovering genes that affect cognitive ability AS Young, HC Martin Trends in Genetics, 2023 | | 2023 |
| Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions QQ Huang, EM Wigdor, P Campbell, DS Malawsky, KE Samocha, ... medRxiv, 2024.03. 05.24303772, 2024 | | 2024 |
| East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people. S Finer, HC Martin, A Khan, KA Hunt, B Maclaughlin, Z Ahmed, R Ashcroft, ... | | 2020 |
| Erythrocytosis associated with a novel missense mutation in the BPGM gene N Petousi, RR Copley, TRJ Lappin, SE Haggan, CM Bento, H Cario, ... Haematologica 99 (10), e201, 2014 | 37 | 2014 |
| 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 | 145 | 2020 |
| 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 | 416 | 2020 |
| 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 | 25 | 2012 |
| 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 | 418 | 2015 |
| Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations VK Chundru, Z Zhang, K Walter, S Lindsay, P Danecek, RY Eberhardt, ... medRxiv, 2023.07. 24.23293070, 2023 | 1 | 2023 |
Qin Qin HuangSenior Staff Scientist, Wellcome Sanger Institute在 sanger.ac.uk 的电子邮件经过验证
