Damian Smedley

Queen Mary University of London

H指数:61

被引数:1.8万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing

蛋白质组学鉴定基因组测序后仍无法诊断的罕见病患者中的疾病相关变异

Science Translational Medicine

IF14.6

2026-09-090

PRE

A phenotypic paradigm for cerebral palsy genetics

脑性瘫痪遗传学的表型范例

American Journal of Human Genetics

IF8.1

2026-09-010

OAAI

Arterbery, Adam S.; Gargano, Michael A.; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam S. L.; Arenas-Diaz, Ana L.; Bauer, Jeremy P.; Blau, Hannah; Carmody, Leigh; Carroll, Kristen I.; Davis, Janice; Giampietro, Philip F.; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius O. B.; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick S.; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Ramlow, Lukas; Raney, Ellen M.; Shingle, Mallory; Smedley, Damian; Smith, Peter A.; Soliman, Demiana A.; Westberry, David E.; Davids, Jon R.; Robinson, Peter N.

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

系统性的基准测试表明，大型语言模型尚未达到传统罕见病决策支持工具的诊断准确度。

European Journal of Human Genetics

IF4.6

2026-02-240

OAAI

Family health history and pharmacogenomics show cross generation premature amitriptyline discontinuation is associated with CYP2C19 loss of-function enrichment

家族健康史和药物基因组学表明，跨代早发性阿米替林停药与CYP2C19功能丧失富集相关。

Communications Medicine

IF6.3

2025-11-130

OAAI

Development of self-phenotyping tools to empower patients and improve diagnostics

开发自表型工具以赋能患者并改善诊断

eBioMedicine

IF10.8

2025-10-300

OAAI

Predicting expression-altering promoter mutations with deep learning

利用深度学习预测改变表达量的启动子突变

Science

IF45.8

2025-05-290

PRE

Kishore Jaganathan; Nicole Ersaro; Gherman Novakovsky; Yuchuan Wang; Terena James; Jeremy Schwartzentruber; Petko Fiziev; Irfahan Kassam; Fan Cao; Johann Hawe; Henry Cavanagh; Ashley Lim; Grace Png; Jeremy McRae; Abhimanyu Banerjee; Arvind Kumar; Jacob Ulirsch; Yan Zhang; Francois Aguet; Pierrick Wainschtein; Laksshman Sundaram; Adriana Salcedo; Sofia Kyriazopoulou Panagiotopoulou; Delasa Aghamirzaie; Evin Padhi; Ziming Weng; Shan Dong; Damian Smedley; Mark Caulfield; Anne O’Donnell-Luria; Heidi L. Rehm; Stephan J. Sanders; Anshul Kundaje; Stephen B. Montgomery; Mark T. Ross; Kyle Kai-How Farh

Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database

药物遗传学与不良药物反应报告：来自英国国家药物警戒数据库的见解

PLOS MEDICINE

IF9.9

2025-03-270

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

统一表型本体论: 跨物种整合表型组学的框架

GENETICS

IF5.1

2025-03-170

OAAI

Matentzoglu, Nicolas; Bello, Susan M.; Stefancsik, Ray; Alghamdi, Sarah M.; Anagnostopoulos, Anna, V; Balhoff, James P.; Balk, Meghan A.; Bradford, Yvonne M.; Bridges, Yasemin; Callahan, Tiffany J.; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C.; Caron, Anita R.; de Souza, Vinicius; Engel, Stacia R.; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L.; Harris, Midori A.; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O. B.; Koehler, Sebastian; Mcmurry, Julie A.; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C.; Parkinson, Helen; Pendlington, Zoe M.; Pilgrim, Clare; Robb, Sofia M. C.; Robinson, Peter N.; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A.; Mungall, Christopher J.; Mclaughlin, James A.; Osumi-Sutherland, David

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2025-01-014

OAAI

Danis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N.

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization

GENETICS IN MEDICINE

IF6.2

2025-01-010

PRE

Lethal phenotypes in Mendelian disorders

孟德尔疾病的致死表型

GENETICS IN MEDICINE

IF6.2

2024-07-011

OAAI

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

BRAIN

IF11.7

2024-06-170

PRE

Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

HUMAN GENOMICS

IF4.3

2024-04-293

OAAI

Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

君主倡议2024年: 一个跨物种整合表型，基因和疾病的分析平台

NUCLEIC ACIDS RESEARCH

IF13.1

2023-11-247

OAAI

Putman, Tim E.; Schaper, Kevin; Matentzoglu, Nicolas; Rubinetti, Vincent P.; Alquaddoomi, Faisal S.; Cox, Corey; Caufield, J. Harry; Elsarboukh, Glass; Gehrke, Sarah; Hegde, Harshad; Reese, Justin T.; Braun, Ian; Bruskiewich, Richard M.; Cappelletti, Luca; Carbon, Seth; Caron, Anita R.; Chan, Lauren E.; Chute, Christopher G.; Cortes, Katherina G.; De Souza, Vinicius; Fontana, Tommaso; Harris, Nomi L.; Hartley, Emily L.; Hurwitz, Eric; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Laraway, Bryan J.; McLaughlin, James A.; McMurry, Julie A.; Moxon, Sierra A. T.; Mullen, Kathleen R.; O'Neil, Shawn T.; Shefchek, Kent A.; Stefancsik, Ray; Toro, Sabrina; Vasilevsky, Nicole A.; Walls, Ramona L.; Whetzel, Patricia L.; Osumi-Sutherland, David; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A.; Munoz-Torres, Monica C.

The Human Phenotype Ontology in 2024: phenotypes around the world

人类表型本体论2024年: 世界各地的表型

NUCLEIC ACIDS RESEARCH

IF13.1

2023-11-1130

OAAI

Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N.

CYP2C19 loss-of-function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British-South Asian cohort

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

IF3

2023-08-062

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-08-0119

OAAI

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

HUMAN MOLECULAR GENETICS

IF3.2

2023-06-263

OAAI

Knockout mice are an important tool for human monogenic heart disease studies

DISEASE MODELS & MECHANISMS

IF3.3

2023-03-216

OAAI

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

超过一百万参与者的冠状动脉疾病风险变异和基因的发现和系统表征

NATURE GENETICS

IF31.8

2022-12-06200

OAAI

Aragam, Krishna G.; Jiang, Tao; Goel, Anuj; Kanoni, Stavroula; Wolford, Brooke N.; Atri, Deepak S.; Weeks, Elle M.; Wang, Minxian; Hindy, George; Zhou, Wei; Grace, Christopher; Roselli, Carolina; Marston, Nicholas A.; Kamanu, Frederick K.; Surakka, Ida; Venegas, Loreto Munoz; Sherliker, Paul; Koyama, Satoshi; Ishigaki, Kazuyoshi; Asvold, Bjorn O.; Brown, Michael R.; Brumpton, Ben; de Vries, Paul S.; Giannakopoulou, Olga; Giardoglou, Panagiota; Gudbjartsson, Daniel F.; Gueldener, Ulrich; Haider, Syed M. Ijlal; Helgadottir, Anna; Ibrahim, Maysson; Kastrati, Adnan; Kessler, Thorsten; Kyriakou, Theodosios; Konopka, Tomasz; Li, Ling; Ma, Lijiang; Meitinger, Thomas; Mucha, Soeren; Munz, Matthias; Murgia, Federico; Nielsen, Jonas B.; Noethen, Markus M.; Pang, Shichao; Reinberger, Tobias; Schnitzler, Gavin; Smedley, Damian; Thorleifsson, Gudmar; von Scheidt, Moritz; Ulirsch, Jacob C.; Arnar, David O.; Burtt, Noel P.; Costanzo, Maria C.; Flannick, Jason; Ito, Kaoru; Jang, Dong-Keun; Kamatani, Yoichiro; Khera, Amit V.; Komuro, Issei; Kullo, Iftikhar J.; Lotta, Luca A.; Nelson, Christopher P.; Roberts, Robert; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Webb, Thomas R.; Baras, Aris; Bjoerkegren, Johan L. M.; Boerwinkle, Eric; Dedoussis, George; Holm, Hilma; Hveem, Kristian; Melander, Olle; Morrison, Alanna C.; Orho-Melander, Marju; Rallidis, Loukianos S.; Ruusalepp, Arno; Sabatine, Marc S.; Stefansson, Kari; Zalloua, Pierre; Ellinor, Patrick T.; Farrall, Martin; Danesh, John; Ruff, Christian T.; Finucane, Hilary K.; Hopewell, Jemma C.; Clarke, Robert; Gupta, Rajat M.; Erdmann, Jeanette; Samani, Nilesh J.; Schunkert, Heribert; Watkins, Hugh; Willer, Cristen J.; Deloukas, Panos; Kathiresan, Sekar; Butterworth, Adam S.

Damian Smedley

个人简介

教育背景

工作经历

荣誉奖项

研究方向