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M

Michael E. Talkowski

massachusetts general hospital

72H指数
379论文数
3.9W被引数
收录论文 160
发表时间
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Contribution of copy number variants to schizophrenia in East Asian populations东亚人群中拷贝数变异对精神分裂症的贡献
errNature Genetics
IF29
err2026-09-11
err0
errOAAI
errYu Chen; Qidi Feng; Max Lam; Mingrui Yu; Yaoyao Sun; Cong Huai; Bimal Jana; Jack Fu; Calwing Liao; Robert Ye; Soyeon Kim; Justin D. Tubbs; Omar Shanta; Bhooma Thiruvahindrapuram; Yawen Jen; Guorui Zhao; Jess Wang; Juan Xu; Wenzhao Shi; Stephen W. Scherer; Feng Zhu; Chih-Min Liu; Zhenglin Guo; Daniel Howrigan; Mark Daly; Benjamin M. Neale; Akira Sawa; Jonathan Sebat; Michael E. Talkowski; Jinsong Tang; Xiancang Ma; Wei J. Chen; Shengying Qin; Weihua Yue; Tian Ge; Hailiang Huang
err分享
err收藏
EP1343 - ECE_3558 - Rare 5′-UTR variants creating new upstream open reading frames provide a potential novel genetic mechanism in congenital hypogonadotropic hypogonadismEP1343 - ECE_3558 - 罕见的5′-UTR变异通过创建新的上游开放阅读框为先天性低促性腺激素性性腺功能减退症提供了一种潜在的全新遗传机制
errEuropean Journal of Endocrinology
IF5.2
err2026-08-10
err0
errOAAI
errGeorgios Markantes; Jack Fu; Harrison Brand; Michael Talkowski; Lacey Plummer; Stephanie Seminara; Ravikumar Balasubramanian; Maria Stamou
err分享
err收藏
Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders趋同性共表达揭示了六种神经精神疾病中常见和罕见变异风险背后的共享生物学机制
errMolecular Psychiatry
IF10.1
err2026-04-07
err0
errOAAI
errHanna Abe; Calwing Liao; Lide Han; Theodore Morley; Michael E. Talkowski; Kristen J. Brennand; Douglas M. Ruderfer
err分享
err收藏
GREGoR: accelerating genomics for rare diseasesGREGoR：加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.新发罕见的EMX2变异导致特发性促性腺激素释放激素缺乏性性腺功能减退症。
errGenetics in Medicine
IF6.2
err2025-10-24
err0
PREAI
errMaria Stamou; Miranda Tompkins; Hannah Bow; Jessica Kearney; Maleeha Akram; Harrison Brand; Xuefang Zhao; Shadi Zaheri; Neoklis A. Georgopoulos; Odelia Chorin; Yulia Khavkin; Tal Kedar; Margaret F. Lippincott; Lacey Plummer; Michael Talkowski; Yiping Shen; Doris K. Wu; Ravikumar Balasubramanian; Susan Wray; Stephanie B. Seminara
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Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related diseaseMEF2C在人源小胶质细胞中的转录和表观遗传靶点，有助于与自闭症风险和年龄相关疾病相关的细胞功能。
errNature Immunology
IF27.6
err2025-10-22
err0
errOAAI
errCelina Nguyen; Emily H. Broersma; Anna S. Warden; Cristina Mora; Claudia Z. Han; Zahara Keulen; Nathanael Spann; Jing Wang; Gabriela Ramirez; Samantha Mak; Samantha Trescott; Mohammadparsa Khakpour; Avalon Johnson; Fatir Qureshi; Michael R. La Frano; Kiana Mohajeri; Michael E. Talkowski; Olivia Corradin; Marie-Ève Tremblay; Christopher K. Glass; Nicole G. Coufal
err分享
err收藏
Author Correction: Complex genetic variation in nearly complete human genomes作者更正：近完整人类基因组中的复杂遗传变异
errNature
IF48.5
err2025-08-26
err0
errOAAI
errGlennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
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International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies国际产前诊断学会2024年辩论3—细胞遗传学是恐龙，应被分子技术取代
errPrenatal Diagnosis
IF2.7
err2025-08-01
err0
errOAAI
errYassmine M. N. Akkari; Michael E. Talkowski; Amy M. Breman
err分享
err收藏
Complex genetic variation in nearly complete human genomes几乎完整的人类基因组中的复杂遗传变异
errNature
IF48.5
err2025-07-23
err0
errOAAI
errGlennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
err分享
err收藏
Whole-blood transcriptomic analysis reveals preoperative complement inhibitor deficiencies linked to postoperative delirium全血转录组分析揭示了与术后谵妄相关的术前补体抑制剂缺乏
errMOLECULAR PSYCHIATRY
IF10.1
err2025-05-27
err0
PREAI
errGraves, Occam Kelly; Kang, Jiayi; Li, Haobo; Erdin, Serkan; Smith, Matthew; Mueller, Ariel; Simon, Christopher; Wiredu, Kwame; Bhave, Varun; De Esch, Celine; Lemanski, John; Talkowski, Michael E.; Rhee, James; Qu, Jason; McKay, Tina B.
err分享
err收藏
Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing通过CRISPR介导的表观基因组编辑激活印记的普拉德-威利综合征位点
errCELL GENOMICS
IF9
err2025-02-01
err0
errOAAI
errRohm, Dahlia; Black, Joshua B.; Mccutcheon, Sean R.; Barrera, Alejandro; Berry, Shante S.; Morone, Daniel J.; Nuttle, Xander; de Esch, Celine E.; Tai, Derek J. C.; Talkowski, Michael E.; Iglesias, Nahid; Gersbach, Charles A.
err分享
err收藏
Diversity and consequences of structural variation in the human genome人类基因组中结构变异的多样性与后果
errNATURE REVIEWS GENETICS
IF52
err2025-01-21
err1
PREAI
errCollins, Ryan L.; Talkowski, Michael E.
err分享
err收藏
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes淋巴母细胞系中的整合TAD目录揭示了人类基因组中缺失和插入的功能影响
errGENOME RESEARCH
IF5.5
err2024-12-05
err0
PREAI
errLi, Chong; Bonder, Marc Jan; Syed, Sabriya; Jensen, Matthew; Human Genome Structural Variation Consortium HGSVC, Mark B.; HGSVC Functional Analysis Working Group, Michael C.; Gerstein, Mark B.; Zody, Michael C.; Chaisson, Mark J. P.; Talkowski, Michael E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Lee, Charles; Shi, Xinghua
err分享
err收藏
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-12-01
err0
errOAAI
errMostovoy, Yulia; Boone, Philip M.; Huang, Yongqing; V. Garimella, Kiran; Tan, Kar-Tong; Russell, Bianca E.; Salani, Monica; Esch, Celine E. F. de; Lemanski, John; Curall, Benjamin; Hauenstein, Jen; Lucente, Diane; Bowers, Tera; Desmet, Tim; Gabriel, Stacey; Morton, Cynthia C.; Meyerson, Matthew; Hastie, Alex R.; Gusella, James; Quintero-Rivera, Fabiola; Brand, Harrison; Talkowski, Michael E.
err分享
err收藏
Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2024-10-05
err0
errOAAI
errStamou, Maria; Tompkin, Miranda; Bow, Hannah; Brand, Harrison; Plummer, Lacey; Talkowski, Michael; Shen, Yipin; Wu, Doris; Balasubramanian, Ravikumar; Wray, Susan; Seminara, Stephanie Beth
err分享
err收藏
THE ALLELIC ARCHITECTURE OF RARE VARIATION IN AUTISM AND OTHER NEURODEVELOPMENTAL CONDITIONS
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errFu, Jack; Satterstrom, F. Kyle; McWalter, Kirsty; Brand, Harrison; Kueffner, Robert; Cutler, David; Samocha, Kaitlin; Robinson, Elise; Buxbaum, Joseph; Devlin, Bernie; Roeder, Kathryn; Kruszka, Paul; Sanders, Stephan; Daly, Mark; Talkowski, Michael
err分享
err收藏
RARE CODING VARIATION ACROSS 149,356 INDIVIDUALS IDENTIFIES OVER 20 NOVEL GENES ASSOCIATED WITH BIPOLAR DISORDER
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errLiao, Calwing; Daly, Mark; Talkowski, Michael; Neale, Benjamin
err分享
err收藏
CHARACTERIZING FUNCTIONAL CONVERGENCE OF COMMON POLYGENIC VARIATION IN NEUROPSYCHIATRIC DISORDER RISK GENES
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errKuo, Susan; Weiner, Daniel; Ling, Emi; Fu, Jack; Satterstrom, F. Kyle; Talkowski, Michael; McCarroll, Steve; Robinson, Elise
err分享
err收藏
HOW MUCH DO RARE DE NOVO VARIANTS CONTRIBUTE TO AUTISM?
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errNadig, Ajay; Lu, Wenhan; Fu, Jack; Satterstrom, F. Kyle; Karczewski, Konrad; Talkowski, Michael; Robinson, Elise; O'Connor, Luke
err分享
err收藏
STRUCTURAL VARIATION OF 30,659 BIPOLAR AND SCHIZOPHRENIA PATIENTS IDENTIFIES NOVEL GENETIC INSIGHTS
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2024-10-01
err0
PREAI
errYe, Robert; Liao, Calwing; Talkowski, Michael; Neale, Benjamin
err分享
err收藏

研究方向

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