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M

Matthew E. Hurles

wellcome genome campus
H指数:118
被引数:12.8万

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荣誉奖项

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Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants

流体智力分数的插补减少了确认偏倚并增加了对常见和稀有变异分析的功效

Nature Genetics
IF29
2026-10-050
OAAI
David M. van den Berg; Daniel S. Malawsky; Wei Huang; Petr Danecek; Klaudia Walter; Georgios Kalantzis; Isaac Wade; Duncan Palmer; Ewan Birney; Karin J. H. Verweij; Dirk J. A. Smit; Sarah J. Lindsay; Matthew E. Hurles; Abdel Abdellaoui; Hilary C. Martin
Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study

外显子测序的拷贝数变异分析是优化发育障碍诊断效率的有效方法——DDD-Africa研究

European Journal of Human Genetics
IF4.6
2026-07-090
OA
Nadja Louw; Prince Makay; Phelelani T. Mpangase; Barry Shingwenyana; Zandisiwe Goliath; Thirona Naicker; Laura M. Yates; Engela Honey; Gerrye Mubungu; Kris Van Den Bogaert; Helen V. Firth; Matthew E. Hurles; Prosper Lukusa Tshilobo; Koen Devriendt; Amanda Krause; Nadia Carstens; Aimé Lumaka; Zané Lombard
Sperm sequencing reveals extensive positive selection in the male germline

精子测序揭示雄性生殖细胞中存在广泛的正向选择。

Nature
IF48.5
2025-10-080
OAAI
Matthew D. C. Neville; Andrew R. J. Lawson; Rashesh Sanghvi; Federico Abascal; My H. Pham; Alex Cagan; Pantelis A. Nicola; Tetyana Bayzetinova; Adrian Baez-Ortega; Kirsty Roberts; Stefanie V. Lensing; Sara Widaa; Raul E. Alcantara; María Paz García; Sam Wadge; Michael R. Stratton; Peter J. Campbell; Kerrin Small; Iñigo Martincorena; Matthew E. Hurles; Raheleh Rahbari
Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population

自闭症的多基因评分与普通人群中成人和儿童的树突密度降低相关

MOLECULAR PSYCHIATRY
IF10.1
2025-02-240
OA
Gu, Yuanjun; Maria-Stauffer, Eva; Bedford, Saashi A.; Adhya, Deep; Allison, Carrie; Ayeung, Bonnie; Bamford, Rosie; Bethlehem, Richard; Biron-Shental, Tal; Burton, Graham; Davies, Jonathan; Davis, Joanna; Floris, Dori; Franklin, Alice; Gabis, Lidia; Geschwind, Daniel; Greenberg, David M.; Havdahl, Alexandra; Heazell, Alexander; Holt, Rosemary; Hurles, Matthew; Khan, Yumnah; Lai, Meng-Chuan; Lancaster, Madeline; Lombardo, Michael; Martinez, Jose Gonzalez; Mill, Jonathan; Musa, Mahmoud Koko; Niakan, Kathy; Pavlinek, Adam; Polit, Lucia Dutan; Radecki, Marcin; Rowitch, David; Sichlinger, Laura; Srivastava, Deepak; Tsompanidis, Alexandros; Uzefovsky, Florina; Weir, Elizabeth; Zhang, Xinhe; Borglum, Anders; Bybjerg-Grauholm, Jonas; Hougaard, David M.; Mors, Ole; Mortensen, Preben Bo; Nordentoft, Merete; Werge, Thomas; Romero-Garcia, Rafael; Grove, Jakob; Borglum, Anders D.; Martin, Hilary; Baron-Cohen, Simon; Bethlehem, Richard A. I.; Warrier, Varun
Examining the role of common variants in rare neurodevelopmental conditions

考察常见变异在罕见神经发育障碍中的作用

Nature
IF48.5
2024-11-200
OAAI
Qin Qin Huang; Emilie M. Wigdor; Daniel S. Malawsky; Patrick Campbell; Kaitlin E. Samocha; V. Kartik Chundru; Petr Danecek; Sarah Lindsay; Thomas Marchant; Mahmoud Koko; Sana Amanat; Davide Bonfanti; Eamonn Sheridan; Elizabeth J. Radford; Jeffrey C. Barrett; Caroline F. Wright; Helen V. Firth; Varun Warrier; Alexander Strudwick Young; Matthew E. Hurles; Hilary C. Martin
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
NATURE GENETICS
IF31.8
2024-09-231
OAAI
Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C.
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
Nature
IF48.5
2024-09-110
OAAI
Stasa Stankovic; Saleh Shekari; Qin Qin Huang; Eugene J. Gardner; Erna V. Ivarsdottir; Nick D. L. Owens; Nasim Mavaddat; Ajuna Azad; Gareth Hawkes; Katherine A. Kentistou; Robin N. Beaumont; Felix R. Day; Yajie Zhao; Hakon Jonsson; Thorunn Rafnar; Vinicius Tragante; Gardar Sveinbjornsson; Asmundur Oddsson; Unnur Styrkarsdottir; Julius Gudmundsson; Simon N. Stacey; Daniel F. Gudbjartsson; Kitale Kennedy; Andrew R. Wood; Michael N. Weedon; Ken K. Ong; Caroline F. Wright; Eva R. Hoffmann; Patrick Sulem; Matthew E. Hurles; Katherine S. Ruth; Hilary C. Martin; Kari Stefansson; John R. B. Perry; Anna Murray
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
NATURE GENETICS
IF31.8
2024-07-050
OA
Waters, Andrew J.; Brendler-Spaeth, Timothy; Smith, Danielle; Offord, Victoria; Tan, Hong Kee; Zhao, Yajie; Obolenski, Sofia; Nielsen, Maartje; van Doorn, Remco; Murphy, Jo-Ellen; Gupta, Prashant; Rowlands, Charlie F.; Hanson, Helen; Delage, Erwan; Thomas, Mark; Radford, Elizabeth J.; Gerety, Sebastian S.; Turnbull, Clare; Perry, John R. B.; Hurles, Matthew E.; Adams, David J.
Prospective study design and data analysis in UK Biobank

英国生物银行前瞻性研究设计与数据分析

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2024-01-1012
OA
Allen, Naomi E.; Lacey, Ben; Lawlor, Deborah A.; Pell, Jill P.; Gallacher, John; Smeeth, Liam; Elliott, Paul; Matthews, Paul M.; Lyons, Ronan A.; Whetton, Anthony D.; Lucassen, Anneke; Hurles, Matthew E.; Chapman, Michael; Roddam, Andrew W.; Fitzpatrick, Natalie K.; Hansell, Anna L.; Hardy, Rebecca; Marioni, Riccardo E.; O'Donnell, Valerie B.; Williams, Julie; Lindgren, Cecilia M.; Effingham, Mark; Sellors, Jonathan; Danesh, John; Collins, Rory
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
NATURE COMMUNICATIONS
IF15.7
2023-12-0610
OAAI
Radford, Elizabeth J.; Tan, Hong-Kee; Andersson, Malin H. L.; Stephenson, James D.; Gardner, Eugene J.; Ironfield, Holly; Waters, Andrew J.; Gitterman, Daniel; Lindsay, Sarah; Abascal, Federico; Martincorena, Inigo; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; Firth, Helen V.; Baker, Kate; Perry, John R. B.; Adams, David J.; Gerety, Sebastian S.; Hurles, Matthew E.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
BRAIN
IF11.7
2023-07-121
OAAI
Levitin, Maria O.; Rawlins, Lettie E.; Sanchez-Andrade, Gabriela; Arshad, Osama A.; Collins, Stephan C.; Sawiak, Stephen J.; Iffland II, Phillip H.; Andersson, Malin H. L.; Bupp, Caleb; Cambridge, Emma L.; Coomber, Eve L.; Ellis, Ian; Herkert, Johanna C.; Ironfield, Holly; Jory, Logan; Kretz, Perrine F.; Kant, Sarina G.; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M.; Stewart, Helen; Shuen, Andrew Y.; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J.; Crino, Peter B.; Yalcin, Binnaz; Crosby, Andrew H.; Baple, Emma L.; Logan, Darren W.; Hurles, Matthew E.; Gerety, Sebastian S.
An Atlas of Variant Effects to understand the genome at nucleotide resolution

以核苷酸分辨率理解基因组的变异效应图集

GENOME BIOLOGY
IF9.4
2023-07-0329
OAAI
Fowler, Douglas M.; Adams, David J.; Gloyn, Anna L.; Hahn, William C.; Marks, Debora S.; Muffley, Lara A.; Neal, James T.; Roth, Frederick P.; Rubin, Alan F.; Starita, Lea M.; Hurles, Matthew E.; Ahituv, Nadav; Bahcal, Orli G.; Baldridge, Dustin; Berg, Jonathan S.; Berger, Alice H.; Bianchi, Aisha Haley; Bolognesi, Benedetta; Boutros, Michael; Brenner, Steven; Brush, Matthew H.; Bryant, Vanessa; Bult, Carol J.; Bulyk, Martha; Call, Melissa; Carter, Hannah; Claussnitzer, Melina; Chen, Feng; Cline, Melissa S.; Cuperus, Josh T.; Dawood, Moez; De Jong, Hannah N.; Dias, Mafalda; Dunn, Michael; Engreitz, Jesse; Farh, Kyle; Febbo, Phillip G.; Fields, Stanley; Findlay, Gregory M.; Firth, Helen; Fraser, James S.; Frazer, Jonathan; Frontini, Mattia; Romero, Irene Gallego; Glazer, Andrew M.; Gueler, Murat; Hartmann-Petersen, Rasmus; Houlston, Richard; Huang, Kuan-Lin; Hutter, Carolyn M.; Jagannathan, Sujatha; James, Richard G.; Kampmann, Martin; Karchin, Rachel; Kinney, Justin B.; Komor, Alexis C.; Kosuri, Sriram; Lehner, Ben; Lindorff-Larsen, Kresten; Lombard, Zane; MacArthur, Daniel G.; Martin, Maria; McDermott, Ultan; McNulty, Shannon M.; Ba, Alex N. Nguyen; O'Donnell-Luria, Anne; O'Roak, Brian J.; Parikh, Victoria N.; Parts, Leopold; Pazin, Michael J.; Pesaran, Tina; Petrovski, Slave; Queitsch, Christine; Root, David E.; Shendure, Jay; Spurdle, Amanda B.; Taylor, Kevin L.; Turnbull, Clare; Villen, Judit; Vissers, L. E. L. M.; Wagner, Alex H.; Wakefield, Matthew J.; Weile, Jochen; Xiao, Jenny
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

患有生长和青春期体质延迟的患者中MC3R有害变体的患病率

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2023-06-207
OA
Duckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen

研究方向

暂未获取到该数据
H
Helen V. Firth
H 指数:73论文数:546被引数:2.4万
C
Caroline F. Wright
H 指数:53论文数:230被引数:1.2万
D
David Fitzpatrick
H 指数:101论文数:569被引数:3.9万
S
Sarah Lindsay
H 指数:27论文数:75被引数:2.7万
T
Tomas Fitzgerald
H 指数:36论文数:144被引数:2.9万
R
Ruth Y. Eberhardt
H 指数:29论文数:68被引数:2.4万
E
Elena Prigmore
H 指数:41论文数:126被引数:1.1万
C
Charles Lee
H 指数:133论文数:708被引数:21.6万
H
Hilary C. Martin
H 指数:44论文数:163被引数:1.2万
S
Sebastian S. Gerety
H 指数:23论文数:50被引数:4,236