Marsha M. Wheeler

University of Washington

H指数:30

被引数:4,189

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GREGoR: accelerating genomics for rare diseases

GREGoR：加速罕见病基因组学研究

Nature

IF48.5

2025-11-120

PRE

Moez 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

Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding

von Willebrand因子抗原水平≤50 IU/dL的遗传学研究确定了与血管性血友病和出血风险增加相关的变异。

Journal of Thrombosis and Haemostasis

IF5

2025-05-120

PRE

Rachel K. Friedman; Adam S. Heath; Jennifer E. Huffman; James T. Baker; Natalie R. Hasbani; Sarah A. Gagliano Taliun; Ming–Huei Chen; Tom E. Howard; Joshua P. Lewis; Nathan Pankratz; Snehal Patil; Alex P. Reiner; Florian Thibord; Lisa R. Yanek; Jie Yao; Hung–Hsin Chen; Joanne E. Curran; Nauder Faraday; Xiuqing Guo; Marsha M. Wheeler; Kathleen A. Ryan; Xiang Zhou; Kelly Cho; Laura Almasy; Paul L. Auer; Lewis C. Becker; Peter W.F. Wilson; Eric Boerwinkle; Jeffrey R. O’Connell; Stephen S. Rich; David C. Samuels; John Blangero; Myriam Fornage; Charles Kooperberg; Rasika A. Mathias; Braxton D. Mitchell; Jerome I. Rotter; Andrew D. Johnson; Nicholas L. Smith; Zeynep H. Coban–Akdemir; Jennifer E. Below; Alanna C. Morrison; Jill M. Johnsen; Paul S. de Vries

Endothelial Dysfunction Biomarkers and CKD Incidence in the REGARDS Cohort

内皮功能障碍生物标志物与CKD发病率的关系

KIDNEY INTERNATIONAL REPORTS

IF5.7

2024-07-010

OAAI

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities (vol 7, 174, 2024)

All of Us队列中致病变异的频率揭示了祖先驱动的差异 (第7卷，174，2024)

COMMUNICATIONS BIOLOGY

IF5.1

2024-06-100

OAAI

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CELL DEATH & DISEASE

IF9.6

2024-05-306

OAAI

Werren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L.

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

COMMUNICATIONS BIOLOGY

IF5.1

2024-02-1916

OAAI

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

患有神经发育障碍的个体中GATAD2A的从头变体: GATAD2A-related神经发育障碍

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-07-011

OAAI

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

SCIENCE ADVANCES

IF12.5

2023-04-284

OAAI

Weinstock, Joshua S.; Laurie, Cecelia A.; Broome, Jai G.; Taylor, Kent D.; Guo, Xiuqing; Shuldiner, Alan R.; O'Connell, Jeffrey R.; Lewis, Joshua P.; Boerwinkle, Eric; Barnes, Kathleen C.; Chami, Nathalie; Kenny, Eimear E.; Loos, Ruth J. F.; Fornage, Myriam; Redline, Susan; Cade, Brian E.; Gilliland, Frank D.; Chen, Zhanghua; Gauderman, W. James; Kumar, Rajesh; Grammer, Leslie; Schleimer, Robert P.; Psaty, Bruce M.; Bis, Joshua C.; Brody, Jennifer A.; Silverman, Edwin K.; Yun, Jeong H.; Qiao, Dandi; Weiss, Scott T.; Lasky-Su, Jessica; DeMeo, Dawn L.; Palmer, Nicholette D.; Freedman, Barry I.; Bowden, Donald W.; Cho, Michael H.; Vasan, Ramachandran S.; Johnson, Andrew D.; Yanek, Lisa R.; Becker, Lewis C.; Kardia, Sharon; He, Jiang; Kaplan, Robert; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Arnett, Donna K.; Irvin, Marguerite R.; Tiwari, Hemant; Correa, Adolfo; Raffield, Laura M.; Gao, Yan; de Andrade, Mariza; Rotter, Jerome I.; Rich, Stephen S.; Manichaikul, Ani W.; Konkle, Barbara A.; Johnsen, Jill M.; Wheeler, Marsha M.; Custer, Brian S.; Duggirala, Ravindranath; Curran, Joanne E.; Blangero, John; Gui, Hongsheng; Xiao, Shujie; Williams, L. Keoki; Meyers, Deborah A.; Li, Xingnan; Ortega, Victor; McGarvey, Stephen; Gu, C. Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M. Benjamin; Darbar, Dawood; Roden, Dan; Albert, Christine; Kooperberg, Charles; Desai, Pinkal; Blackwell, Thomas W.; Abecasis, Goncalo R.; V. Smith, Albert; Kang, Hyun M.; Mathias, Rasika; Natarajan, Pradeep; Jaiswal, Siddhartha; Reiner, Alexander P.; Bick, Alexander G.

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

全基因组测序确定了NHLBI TOPMed程序中有助于血液学性状的结构变异

NATURE COMMUNICATIONS

IF15.7

2022-12-084

OAAI

Wheeler, Marsha M.; Stilp, Adrienne M.; Rao, Shuquan; Halldorsson, Bjarni V.; Beyter, Doruk; Wen, Jia; Mihkaylova, Anna V.; McHugh, Caitlin P.; Lane, John; Jiang, Min-Zhi; Raffield, Laura M.; Jun, Goo; Sedlazeck, Fritz J.; Metcalf, Ginger; Yao, Yao; Bis, Joshua B.; Chami, Nathalie; de Vries, Paul S.; Desai, Pinkal; Floyd, James S.; Gao, Yan; Kammers, Kai; Kim, Wonji; Moon, Jee-Young; Ratan, Aakrosh; Yanek, Lisa R.; Almasy, Laura; Becker, Lewis C.; Blangero, John; Cho, Michael H.; Curran, Joanne E.; Fornage, Myriam; Kaplan, Robert C.; Lewis, Joshua P.; Loos, Ruth J. F.; Mitchell, Braxton D.; Morrison, Alanna C.; Preuss, Michael; Psaty, Bruce M.; Rich, Stephen S.; Rotter, Jerome I.; Tang, Hua; Tracy, Russell P.; Boerwinkle, Eric; Abecasis, Goncalo R.; Blackwell, Thomas W.; Smith, Albert V.; Johnson, Andrew D.; Mathias, Rasika A.; Nickerson, Deborah A.; Conomos, Matthew P.; Li, Yun; Forsteinsdottir, Unnur; Magnusson, Magnus K.; Stefansson, Kari; Pankratz, Nathan D.; Bauer, Daniel E.; Auer, Paul L.; Reiner, Alex P.

TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

Top-ld: 一种利用TOPMed全基因组序列数据探索连锁不平衡的工具

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-06-0128

OAAI

Endothelial Dysfunction Markers And Incident Chronic Kidney Disease In The Regards Cohort

CIRCULATION

IF38.6

2022-03-010

PRE

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

CELL GENOMICS

IF9

2022-01-0130

OAAI

Taub, Margaret A.; Conomos, Matthew P.; Keener, Rebecca; Iyer, Kruthika R.; Weinstock, Joshua S.; Yanek, Lisa R.; Lane, John; Miller-Fleming, Tyne W.; Brody, Jennifer A.; Raffield, Laura M.; McHugh, Caitlin P.; Jain, Deepti; Gogarten, Stephanie M.; Laurie, Cecelia A.; Keramati, Ali; Arvanitis, Marios; Smith, Albert, V; Heavner, Benjamin; Barwick, Lucas; Becker, Lewis C.; Bis, Joshua C.; Blangero, John; Bleecker, Eugene R.; Burchard, Esteban G.; Celedon, Juan C.; Chang, Yen Pei C.; Custer, Brian; Darbar, Dawood; de las Fuentes, Lisa; DeMeo, Dawn L.; Freedman, Barry, I; Garrett, Melanie E.; Gladwin, Mark T.; Heckbert, Susan R.; Hidalgo, Bertha A.; Irvin, Marguerite R.; Islam, Talat; Johnson, W. Craig; Kaab, Stefan; Launer, Lenore; Lee, Jiwon; Liu, Simin; Moscati, Arden; North, Kari E.; Peyser, Patricia A.; Rafaels, Nicholas; Seidman, Christine; Weeks, Daniel E.; Wen, Fayun; Wheeler, Marsha M.; Williams, L. Keoki; Yang, Ivana, V; Zhao, Wei; Aslibekyan, Stella; Auer, Paul L.; Bowden, Donald W.; Cade, Brian E.; Chen, Zhanghua; Cho, Michael H.; Cupples, L. Adrienne; Curran, Joanne E.; Daya, Michelle; Deka, Ranjan; Eng, Celeste; Fingerlin, Tasha E.; Guo, Xiuqing; Hou, Lifang; Hwang, Shih-Jen; Johnsen, Jill M.; Kenny, Eimear E.; Levin, Albert M.; Liu, Chunyu; Minster, Ryan L.; Naseri, Take; Nouraie, Mehdi; Reupena, Muagututi'a Sefuiva; Sabino, Ester C.; Smith, Jennifer A.; Smith, Nicholas L.; Lasky-Su, Jessica; Taylor, James G.; Telen, Marilyn J.; Tiwari, Hemant K.; Tracy, Russell P.; White, Marquitta J.; Zhang, Yingze; Wiggins, Kerri L.; Weiss, Scott T.; Vasan, Ramachandran S.; Taylor, Kent D.; Sinner, Moritz F.; Silverman, Edwin K.; Shoemaker, M. Benjamin; Sheu, Wayne H-H; Sciurba, Frank; Schwartz, David A.; Rotter, Jerome, I; Roden, Daniel; Redline, Susan; Raby, Benjamin A.; Psaty, Bruce M.; Peralta, Juan M.; Palmer, Nicholette D.; Nekhai, Sergei; Montgomery, Courtney G.; Mitchell, Braxton D.; Meyers, Deborah A.; McGarvey, Stephen T.; Martinez, Fernando D.; Mak, Angel C. Y.; Loos, Ruth J. F.; Kumar, Rajesh; Kooperberg, Charles; Konkle, Barbara A.; Kelly, Shannon; Kardia, Sharon L. R.; Kaplan, Robert; He, Jiang; Gui, Hongsheng; Gilliland, Frank D.; Gelb, Bruce D.; Fornage, Myriam; Ellinor, Patrick T.; de Andrade, Mariza; Correa, Adolfo; Chen, Yii-Der Ida; Boerwinkle, Eric; Barnes, Kathleen C.; Ashley-Koch, Allison E.; Arnett, Donna K.; Albert, Christine; Laurie, Cathy C.; Abecasis, Goncalo; Nickerson, Deborah A.; Wilson, James G.; Rich, Stephen S.; Levy, Daniel; Ruczinski, Ingo; Aviv, Abraham; Blackwell, Thomas W.; Thornton, Timothy; O'Connell, Jeff; Cox, Nancy J.; Perry, James A.; Armanios, Mary; Battle, Alexis; Pankratz, Nathan; Reiner, Alexander P.; Mathias, Rasika A.

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

不同受试者的全基因组测序确定白细胞性状的遗传相关性: NHLBI TOPMed计划

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-10-0118

OAAI

Mikhaylova, Anna, V; McHugh, Caitlin P.; Polfus, Linda M.; Raffield, Laura M.; Boorgula, Meher Preethi; Blackwell, Thomas W.; Brody, Jennifer A.; Broome, Jai; Chami, Nathalie; Chen, Ming-Huei; Conomos, Matthew P.; Cox, Corey; Curran, Joanne E.; Daya, Michelle; Ekunwe, Lynette; Glahn, David C.; Heard-Costa, Nancy; Highland, Heather M.; Hobbs, Brian D.; Ilboudo, Yann; Jain, Deepti; Lange, Leslie A.; Miller-Fleming, Tyne W.; Min, Nancy; Moon, Jee-Young; Preuss, Michael H.; Rosen, Jonathon; Ryan, Kathleen; Smith, Albert, V; Sun, Quan; Surendran, Praveen; de Vries, Paul S.; Walter, Klaudia; Wang, Zhe; Wheeler, Marsha; Yanek, Lisa R.; Zhong, Xue; Abecasis, Goncalo R.; Almasy, Laura; Barnes, Kathleen C.; Beaty, Terri H.; Becker, Lewis C.; Blangero, John; Boerwinkle, Eric; Butterworth, Adam S.; Chavan, Sameer; Cho, Michael H.; Choquet, Helene; Correa, Adolfo; Cox, Nancy; DeMeo, Dawn L.; Faraday, Nauder; Fornage, Myriam; Gerszten, Robert E.; Hou, Lifang; Johnson, Andrew D.; Jorgenson, Eric; Kaplan, Robert; Kooperberg, Charles; Kundu, Kousik; Laurie, Cecelia A.; Lettre, Guillaume; Lewis, Joshua P.; Li, Bingshan; Li, Yun; Lloyd-Jones, Donald M.; Loos, Ruth J. F.; Manichaikul, Ani; Meyers, Deborah A.; Mitchell, Braxton D.; Morrison, Alanna C.; Ngo, Debby; Nickerson, Deborah A.; Nongmaithem, Suraj; North, Kari E.; O'Connell, Jeffrey R.; Ortega, Victor E.; Pankratz, Nathan; Perry, James A.; Psaty, Bruce M.; Rich, Stephen S.; Soranzo, Nicole; Rotter, Jerome, I; Silverman, Edwin K.; Smith, Nicholas L.; Tang, Hua; Tracy, Russell P.; Thornton, Timothy A.; Vasan, Ramachandran S.; Zein, Joe; Mathias, Rasika A.; Reiner, Alexander P.; Auer, Paul L.

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative

NHLBI精准医学跨组学 (TOPMed) 计划中血小板性状的全基因组序列分析

HUMAN MOLECULAR GENETICS

IF3.2

2021-09-0614

Little, Amarise; Hu, Yao; Sun, Quan; Jain, Deepti; Broome, Jai; Chen, Ming-Huei; Thibord, Florian; McHugh, Caitlin; Surendran, Praveen; Blackwell, Thomas W.; Brody, Jennifer A.; Bhan, Arunoday; Chami, Nathalie; de Vries, Paul S.; Ekunwe, Lynette; Heard-Costa, Nancy; Hobbs, Brian D.; Manichaikul, Ani; Moon, Jee-Young; Preuss, Michael H.; Ryan, Kathleen; Wang, Zhe; Wheeler, Marsha; Yanek, Lisa R.; Abecasis, Goncalo R.; Almasy, Laura; Beaty, Terri H.; Becker, Lewis C.; Blangero, John; Boerwinkle, Eric; Butterworth, Adam S.; Choquet, Helene; Correa, Adolfo; Curran, Joanne E.; Faraday, Nauder; Fornage, Myriam; Glahn, David C.; Hou, Lifang; Jorgenson, Eric; Kooperberg, Charles; Lewis, Joshua P.; Lloyd-Jones, Donald M.; Loos, Ruth J. F.; Min, Yuan-, I; Mitchell, Braxton D.; Morrison, Alanna C.; Nickerson, Deborah A.; North, Kari E.; O'Connell, Jeffrey R.; Pankratz, Nathan; Psaty, Bruce M.; Vasan, Ramachandran S.; Rich, Stephen S.; Rotter, Jerome, I; Smith, Albert, V; Smith, Nicholas L.; Tang, Hua; Tracy, Russell P.; Conomos, Matthew P.; Laurie, Cecelia A.; Mathias, Rasika A.; Li, Yun; Auer, Paul L.; Thornton, Timothy; Reiner, Alexander P.; Johnson, Andrew D.; Raffield, Laura M.

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program (vol 108, pg 874, 2021)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-06-018

OAAI

Hu, Yao; Stilp, Adrienne M.; McHugh, Caitlin P.; Rao, Shuquan; Jain, Deepti; Zheng, Xiuwen; Lane, John; de Bellefon, Sebastian Meric; Raffield, Laura M.; Chen, Ming-Huei; Yanek, Lisa R.; Wheeler, Marsha; Yao, Yao; Ren, Chunyan; Broome, Jai; Moon, Jee-Young; de Vries, Paul S.; Hobbs, Brian D.; Sun, Quan; Surendran, Praveen; Brody, Jennifer A.; Blackwell, Thomas W.; Choquet, Helene; Ryan, Kathleen; Duggirala, Ravindranath; Heard-Costa, Nancy; Wang, Zhe; Chami, Nathalie; Preuss, Michael H.; Min, Nancy; Ekunwe, Lynette; Lange, Leslie A.; Cushman, Mary; Faraday, Nauder; Curran, Joanne E.; Almasy, Laura; Kundu, Kousik; Smith, Albert V.; Gabriel, Stacey; Rotter, Jerome I.; Fornage, Myriam; Lloyd-Jones, Donald M.; Vasan, Ramachandran S.; Smith, Nicholas L.; North, Kari E.; Boerwinkle, Eric; Becker, Lewis C.; Lewis, Joshua P.; Abecasis, Goncalo R.; Hou, Lifang; O'Connell, Jeffrey R.; Morrison, Alanna C.; Beaty, Terri H.; Kaplan, Robert; Correa, Adolfo; Blangero, John; Jorgenson, Eric; Psaty, Bruce M.; Kooperberg, Charles; Walton, Russell T.; Kleinstiver, Benjamin P.; Tang, Hua; Loos, Ruth J. F.; Soranzo, Nicole; Butterworth, Adam S.; Nickerson, Debbie; Rich, Stephen S.; Mitchell, Braxton D.; Johnson, Andrew D.; Auer, Paul L.; Li, Yun; Mathias, Rasika A.; Lettre, Guillaume; Pankratz, Nathan; Laurie, Cathy C.; Laurie, Cecelia A.; Bauer, Daniel E.; Conomos, Matthew P.; Reiner, Alexander P.

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

定量红细胞表型的全基因组测序关联分析: NHLBI TOPMed程序

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-05-0126

OAAI

Hu, Yao; Stilp, Adrienne M.; McHugh, Caitlin P.; Rao, Shuquan; Jain, Deepti; Zheng, Xiuwen; Lane, John; de Bellefon, Sebastian Meric; Raffield, Laura M.; Chen, Ming-Huei; Yanek, Lisa R.; Wheeler, Marsha; Yao, Yao; Ren, Chunyan; Broome, Jai; Moon, Jee-Young; de Vries, Paul S.; Hobbs, Brian D.; Sun, Quan; Surendran, Praveen; Brody, Jennifer A.; Blackwell, Thomas W.; Choquet, Helene; Ryan, Kathleen; Duggirala, Ravindranath; Heard-Costa, Nancy; Wang, Zhe; Chami, Nathalie; Preuss, Michael H.; Min, Nancy; Ekunwe, Lynette; Lange, Leslie A.; Cushman, Mary; Faraday, Nauder; Curran, Joanne E.; Almasy, Laura; Kundu, Kousik; Smith, Albert, V; Gabriel, Stacey; Rotter, Jerome, I; Fornage, Myriam; Lloyd-Jones, Donald M.; Vasan, Ramachandran S.; Smith, Nicholas L.; North, Kari E.; Boerwinkle, Eric; Becker, Lewis C.; Lewis, Joshua P.; Abecasis, Goncalo R.; Hou, Lifang; O'Connell, Jeffrey R.; Morrison, Alanna C.; Beaty, Terri H.; Kaplan, Robert; Correa, Adolfo; Blangero, John; Jorgenson, Eric; Psaty, Bruce M.; Kooperberg, Charles; Walton, Russell T.; Kleinstiver, Benjamin P.; Tang, Hua; Loos, Ruth J. F.; Soranzo, Nicole; Butterworth, Adam S.; Nickerson, Debbie; Rich, Stephen S.; Mitchell, Braxton D.; Johnson, Andrew D.; Auer, Paul L.; Li, Yun; Mathias, Rasika A.; Lettre, Guillaume; Pankratz, Nathan; Laurie, Cathy C.; Laurie, Cecelia A.; Bauer, Daniel E.; Conomos, Matthew P.; Reiner, Alexander P.

Germline SAMD9L truncation variants trigger global translational repression

JOURNAL OF EXPERIMENTAL MEDICINE

IF10.6

2021-03-1619

OAAI

Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans

凝血因子VIII: 与非裔美国人心血管疾病风险和全基因组序列和表观基因组分析的关系

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2020-06-0117

OAAI

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences