From genes to cells to diseases
Our lab studies genetic effects on gene regulation and gene expression to identify the molecular and cellular mechanisms which define human traits.
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includes the most recent list of publications
-- Jennefer N Kohler,Nicole R Legro,Dustin Baldridge,Jimann Shin,Angela Bowman,Berrak Ugur,Madelyn M Jackstadt,Leah P Shriver,Gary J Patti,Bo Zhang,Wenjia Feng,Anthony R McAdow,Pagé Goddard,Rachel A Ungar,Tanner Jensen,Kevin S Smith,Laure Fresard,Raquel Alvarez,Devon Bonner,Chloe M Reuter,Colleen McCormack,Elijah Kravets,Shruti Marwaha,James M Holt,Maria T Acosta,Margaret Adam,David R Adams,Raquel L Alvarez,Justin Alvey,Laura Amendola,Ashley Andrews,Euan A Ashley,Carlos A Bacino,Guney Bademci,Ashok Balasubramanyam,Jim Bale,Michael Bamshad,Deborah Barbouth,Pinar Bayrak-Toydemir,Anita Beck,Alan H Beggs,Edward Behrens,Gill Bejerano,Hugo J Bellen,Jimmy Bennett,Beverly Berg-Rood,Jonathan A Bernstein,Gerard T Berry,Anna Bican,Stephanie Bivona,Elizabeth Blue,John Bohnsack,Lorenzo Botto,Brenna Boyd,Lauren C Briere,Elizabeth A Burke,Lindsay C Burrage,Manish J Butte,Peter Byers,William E Byrd,John Carey,Olveen Carrasquillo,Thomas Cassini,Ta Chen Peter Chang,Sirisak Chanprasert,Hsiao-Tuan Chao,Ivan Chinn,Gary D Clark,Terra R Coakley,Laurel A Cobban,Joy D Cogan,Matthew Coggins,F Sessions Cole,Heather A Colley,Heidi Cope,Brian Corner,Rosario Corona,William J Craigen,Andrew B Crouse,Michael Cunningham,Precilla D’Souza,Hongzheng Dai,Surendra Dasari,Joie Davis,Jyoti G Dayal,Esteban C Dell'Angelica,Patricia Dickson,Katrina Dipple,Daniel Doherty,Naghmeh Dorrani,Argenia L Doss,Emilie D Douine,Dawn Earl,David J Eckstein,Lisa T Emrick,Christine M Eng,Kimberly Ezell,Marni Falk,Elizabeth L Fieg,Paul G Fisher,Brent L Fogel,Irman Forghani,William A Gahl,Ian Glass,Bernadette Gochuico,Page C Goddard,Rena A Godfrey,Katie Golden-Grant,Alana Grajewski,Don Hadley,Sihoun Hahn,Meghan C Halley,Rizwan Hamid,Kelly Hassey,Nichole Hayes,Frances High,Anne Hing,Fuki M Hisama,Ingrid A Holm,Jason Hom,Martha Horike-Pyne,Alden Huang,Sarah Hutchison,Wendy Introne,Rosario Isasi,Kosuke Izumi,Fariha Jamal,Gail P Jarvik,Jeffrey Jarvik,Suman Jayadev,Orpa Jean-Marie,Vaidehi Jobanputra,Lefkothea Karaviti,Shamika Ketkar,Dana Kiley,Gonench Kilich,Shilpa N Kobren,Isaac S Kohane,Susan Korrick,Mary Kozuira,Deborah Krakow,Donna M Krasnewich,Seema R Lalani,Byron Lam,Christina Lam,Brendan C Lanpher,Ian R Lanza,Kimberly LeBlanc,Brendan H Lee,Roy Levitt Jennefer N Kohler, ... Roy Levitt Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder Genetics in Medicine 2024 101166
-- MoTrPAC Study Group Primary authors,David Amar,Nicole R Gay,Pierre M Jean-Beltran,Manuscript Writing Group Leads,Co-corresponding Authors,Bioinformatics Center Dalton Karen P. 1 http://orcid.org/0000-0002-0164-3142,Hastie Trevor 33,Hershman Steven G. 1,Samdarshi Mihir 1,Teng Christopher 1,Tibshirani Rob 33 34,Biospecimens Repository Cornell Elaine 16,Gagne Nicole 16,May Sandy 16,Administrative Coordinating Center Bouverat Brian 35,Leeuwenburgh Christiaan 35,Lu Ching-ju 35,Pahor Marco 26,Data Management, Analysis, and Quality Control Center Hsu Fang-Chi 18,Rushing Scott 18,Walkup Michael P. 18,Exercise Intervention Core Nicklas Barbara 36 http://orcid.org/0000-0003-2281-4649,Rejeski W. Jack 37,NIH Williams John P. 38,Xia Ashley 39 MoTrPAC Study Group Primary authors, ... Xia Ashley 39 Temporal dynamics of the multi-omic response to endurance exercise training Nature 2024 629 (8010), 174-183
-- Gina M Many,James A Sanford,Tyler J Sagendorf,Zhenxin Hou,Pasquale Nigro,Katie L Whytock,David Amar,Tiziana Caputo,Nicole R Gay,David A Gaul,Michael F Hirshman,David Jimenez-Morales,Malene E Lindholm,Michael J Muehlbauer,Maria Vamvini,Bryan C Bergman,Facundo M Fernández,Laurie J Goodyear,Andrea L Hevener,Eric A Ortlund,Lauren M Sparks,Ashley Xia,Joshua N Adkins,Sue C Bodine,Christopher B Newgard,Simon Schenk Gina M Many, ... Simon Schenk Sexual dimorphism and the multi-omic response to exercise training in rat subcutaneous white adipose tissue Nature Metabolism 2024 1-17
-- Nikolai G Vetr,Nicole R Gay,Stephen B Montgomery Nikolai G Vetr, ... Stephen B Montgomery The impact of exercise on gene regulation in association with complex trait genetics Nature Communications 2024 15 (1), 3346
-- Venugopalan D Nair,Hanna Pincas,Gregory R Smith,Elena Zaslavsky,Yongchao Ge,Mary Anne S Amper,Mital Vasoya,Maria Chikina,Yifei Sun,Archana Natarajan Raja,Weiguang Mao,Nicole R Gay,Karyn A Esser,Kevin S Smith,Bingqing Zhao,Laurens Wiel,Aditya Singh,Malene E Lindholm,David Amar,Stephen Montgomery,Michael P Snyder,Martin J Walsh,Stuart C Sealfon Venugopalan D Nair, ... Stuart C Sealfon Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures Cell Genomics 2024
-- Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Sarah L Stenton,Susan Walker,Alicia Ljungdahl,Jenny Lord,Vijay S Ganesh,Jialan Ma,Alexandra C Martin-Geary,Gabrielle Lemire,Elston N D’Souza,Shan Dong,Jamie M Ellingford,David R Adams,Kirsten Allan,Madhura Bakshi,Erin E Baldwin,Seth I Berger,Jonathan A Bernstein,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,Alison G Compton,Chloe A Cunningham,Precilla D’Souza,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Carey-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Christina L Grant,Tobias Haack,Alma Kuechler,Seema R Lalani,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Paul J Lockhart,Alan S Ma,Ellen F Macnamara,Taylor M Maurer,Hector R Mendez,Stephen B Montgomery,Marie-Cécile Nassogne,Serena Neumann,Melanie O’Leary,Elizabeth E Palmer,John Phillips,Georgia Pitsava,Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev,Cas Simons,Sanjay M Sisodiya,Penny Snell,Laura St Clair,Zornitza Stark,Tiong Yang Tan,Natalie B Tan,Suzanna EL Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur,Joanna MM Howson,Stephan J Sanders,Anne O’Donnell-Luria,Nicola Whiffin Yuyang Chen, ... Nicola Whiffin De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders medRxiv 2024 07.24305438
-- Craig Smail,Stephen B Montgomery Craig Smail, ... Stephen B Montgomery RNA Sequencing in Disease Diagnosis Annual Review of Genomics and Human Genetics 2024 25
-- Bruna Gomes,Aditya Singh,Jack W O’Sullivan,Theresia M Schnurr,Pagé C Goddard,Shaun Loong,David Amar,J Weston Hughes,Mykhailo Kostur,Francois Haddad,Michael Salerno,Roger Foo,Stephen B Montgomery,Victoria N Parikh,Benjamin Meder,Euan A Ashley Bruna Gomes, ... Euan A Ashley Genetic architecture of cardiac dynamic flow volumes Nature Genetics 2024 56 (2), 245-257
-- Rachel A Ungar,Pagé C Goddard,Tanner D Jensen,Fabien Degalez,Kevin S Smith,Christopher A Jin,Undiagnosed Diseases Network,Devon E Bonner,Jonathan A Bernstein,Matthew T Wheeler,Stephen B Montgomery Rachel A Ungar, ... Stephen B Montgomery Impact of genome build on RNA-seq interpretation and diagnostics medRxiv 2024
-- Tiffany Eulalio,Min Woo Sun,Olivier Gevaert,Michael D Greicius,Thomas J Montine,Daniel Nachun,Stephen B Montgomery Tiffany Eulalio, ... Stephen B Montgomery regionalpcs: improved discovery of DNA methylation associations with complex traits bioRxiv 2024 2024.05. 01.590171
-- Tanner D Jensen,Bohan Ni,Chloe Reuter,John E Gorzynski,Sarah Fazal,Devon E Bonner,Rachel Allison Ungar,Pagé C Goddard,Archana Natarajan Raja,Euan A Ashley,Jonathan A Bernstein,Stephan Zuchner,Undiagnosed Diseases Network,Michael D Greicius,Stephen B Montgomery,Michael C Schatz,Matthew T Wheeler,Alexis Battle Tanner D Jensen, ... Alexis Battle Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease medRxiv 2024 2024.03. 22.24304565
-- Jonas A Gustafson,Sophia B Gibson,Nikhita Damaraju,Miranda PG Zalusky,Kendra Hoekzema,David Twesigomwe,Lei Yang,Anthony A Snead,Phillip A Richmond,Wouter De Coster,Nathan D Olson,Andrea Guarracino,Qiuhui Li,Angela L Miller,Joy Goffena,Zachery Anderson,Sophie HR Storz,Sydney A Ward,Maisha Sinha,Claudia Gonzaga-Jauregui,Wayne E Clarke,Anna O Basile,Andre Corvelo,Catherine E Reeves,Adrienne Helland,Rajeeva Lochan Musunuri,Mahler Revsine,Karynne E Patterson,Cate Paschal,Christina Zakarian,Sara Goodwin,Tanner D Jensen,Esther Robb,1000 Genomes ONT Sequencing Consortium,University of Washington Center for Rare Disease Research (UW-CRDR),Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium,W Richard McCombie,Fritz J Sedlazeck,Justin M Zook,Stephen B Montgomery,Erik Garrison,Mikhail Kolmogorov,Michael C Schatz,Richard N McLaughlin Jr,Harriet Dashnow,Michael C Zody,Matthew Loose,Miten Jain,Evan E Eichler,Danny E Miller Jonas A Gustafson, ... Danny E Miller Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation medRxiv 2024 2024.03. 05.24303792