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Shruti Marwaha
Researcher at Stanford University
Publications - 40
Citations - 1511
Shruti Marwaha is an academic researcher from Stanford University. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 12, co-authored 25 publications receiving 794 citations. Previous affiliations of Shruti Marwaha include Cardiovascular Institute of the South & University of Cincinnati.
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Journal ArticleDOI
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler,Leigh C. Carmody,Nicole Vasilevsky,Julius O.B. Jacobsen,Daniel Danis,Jean-Philippe F. Gourdine,Michael A. Gargano,Nomi L. Harris,Nicolas Matentzoglu,Julie A. McMurry,David Osumi-Sutherland,Valentina Cipriani,James P. Balhoff,Tom Conlin,Hannah Blau,Gareth Baynam,Richard Palmer,Dylan Gratian,Hugh Dawkins,Michael M. Segal,Anna Jansen,Ahmed Muaz,Willie H. Chang,Jenna R.E. Bergerson,Stanley J. F. Laulederkind,Zafer Yüksel,Sergi Beltran,Alexandra F. Freeman,Panagiotis I. Sergouniotis,Daniel Durkin,Andrea L. Storm,Marc Hanauer,Michael Brudno,Susan M. Bello,Murat Sincan,Kayli Rageth,Matthew T. Wheeler,Renske Oegema,Halima Lourghi,Maria G. Della Rocca,Rachel Thompson,Francisco Castellanos,James R. Priest,Charlotte Cunningham-Rundles,Ayushi Hegde,Ruth C. Lovering,Catherine Hajek,Annie Olry,Luigi D. Notarangelo,Morgan Similuk,Xingmin Aaron Zhang,David Gómez-Andrés,Hanns Lochmüller,Hélène Dollfus,Sergio Rosenzweig,Shruti Marwaha,Ana Rath,Kathleen E. Sullivan,Cynthia L. Smith,Joshua D. Milner,Dorothée Leroux,Cornelius F. Boerkoel,Amy D. Klion,Melody C. Carter,Tudor Groza,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Christopher J. Mungall,Peter N. Robinson +69 more
TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
Journal ArticleDOI
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Fresard,Craig Smail,Nicole M. Ferraro,Nicole A. Teran,Xin Li,Kevin S. Smith,Devon Bonner,Kristin D. Kernohan,Shruti Marwaha,Shruti Marwaha,Zachary Zappala,Brunilda Balliu,Joe R. Davis,Boxiang Liu,Cameron J. Prybol,Jennefer N. Kohler,Diane B. Zastrow,Chloe M. Reuter,Dianna G. Fisk,Megan E. Grove,Jean M. Davidson,Taila Hartley,Ruchi Joshi,Benjamin J. Strober,Sowmithri Utiramerur,Lars Lind,Erik Ingelsson,Erik Ingelsson,Alexis Battle,Gill Bejerano,Jonathan A. Bernstein,Euan A. Ashley,Kym M. Boycott,Jason D. Merker,Jason D. Merker,Matthew T. Wheeler,Matthew T. Wheeler,Stephen B. Montgomery +37 more
TL;DR: A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.
Journal ArticleDOI
Molecular Transducers of Physical Activity Consortium (MoTrPAC): Mapping the Dynamic Responses to Exercise.
James A. Sanford,Christopher D. Nogiec,Malene E. Lindholm,Joshua N. Adkins,David Amar,Surendra Dasari,Jonelle K. Drugan,Facundo M. Fernández,Shlomit Radom-Aizik,Simon Schenk,Michael Snyder,Russell P. Tracy,Patrick M. Vanderboom,Scott Trappe,Martin J. Walsh,Charles R. Evans,Yafeng Li,Lyl Tomlinson,D. Lee Alekel,Iddil Bekirov,Amanda T. Boyce,Josephine Boyington,Jerome L. Fleg,Lyndon Joseph,Maren R. Laughlin,Padma Maruvada,Stephanie A. Morris,Joan McGowan,Concepcion R. Nierras,Vinay Pai,Charlotte A. Peterson,Ed Ramos,Mary Roary,John P. Williams,Ashley Xia,Elaine Cornell,Jessica Rooney,Michael Miller,Walter T. Ambrosius,Scott Rushing,Cynthia L. Stowe,W. Jack Rejeski,Barbara J. Nicklas,Marco Pahor,Ching-ju Lu,Todd A. Trappe,Toby Chambers,Ulrika Raue,Bridget Lester,Bryan C. Bergman,David H. Bessesen,Catherine M. Jankowski,Wendy M. Kohrt,Edward L. Melanson,Kerrie L. Moreau,Irene E. Schauer,Robert S. Schwartz,William E. Kraus,Cris A. Slentz,Kim M. Huffman,Johanna L. Johnson,Leslie H. Willis,L S. Kelly,Joseph A. Houmard,Gabriel S. Dubis,Nick Broskey,Bret H. Goodpaster,Lauren M. Sparks,Paul M. Coen,Dan M. Cooper,Fadia Haddad,Tuomo Rankinen,Eric Ravussin,Neil M. Johannsen,Melissa Harris,John M. Jakicic,Anne B. Newman,Daniel Forman,Erin E. Kershaw,Renee J. Rogers,Bradley C. Nindl,Lindsay C. Page,Maja Stefanovic-Racic,Susan Barr,Blake B. Rasmussen,Tatiana Moro,Doug Paddon-Jones,Elena Volpi,Heidi Spratt,Nicolas Musi,Sara E. Espinoza,Darpan I. Patel,Monica C. Serra,Jonathan Gelfond,Aisling Burns,Marcas M. Bamman,Thomas W. Buford,Gary Cutter,Sue C. Bodine,Karyn A. Esser,Rodger P. Farrar,Laurie J. Goodyear,Michael F. Hirshman,Brent G. Albertson,Wei-Jun Qian,Paul D. Piehowski,Marina A. Gritsenko,Matthew E. Monore,Vladislav A. Petyuk,Jason E. McDermott,Joshua N. Hansen,Chelsea Hutchison,Samuel G. Moore,David A. Gaul,Clary B. Clish,Julian Avila-Pacheco,Courtney Dennis,Manolis Kellis,Steve Carr,Pierre M. Jean-Beltran,Hasmik Keshishian,D. R. Mani,Karl R. Clauser,Karsten Krug,Charlie Mundorff,Cadence Pearce,Anna A. Ivanova,Eric A. Ortlund,Kristal M. Maner-Smith,Karan Uppal,Tiantian Zhang,Stuart C. Sealfon,Elena Zaslavsky,Venugopalan D. Nair,SiDe Li,Nimisha Jain,Yongchao Ge,Yifei Sun,German Nudelman,Frederique Ruf-Zamojski,Gregory R. Smith,Nhanna Pincas,Aliza B. Rubenstein,Mary Anne S. Amper,Nitish Seenarine,Tuuli Lappalainen,Ian R. Lanza,K. Sreekumaran Nair,Katherine Klaus,Stephen B. Montgomery,Kevin S. Smith,Bingqing Zhao,Chia-Jiu Hung,Navid Zebarjadi,Brunilda Balliu,Laure Fresard,Charles F. Burant,Jun Li,Maureen Kachman,Tanu Soni,Alexander B. Raskind,Robert E. Gerszten,Jeremy M. Robbins,Olga Ilkayeva,Michael J. Muehlbauer,Christopher B. Newgard,Euan A. Ashley,Matthew T. Wheeler,David Jimenez-Morales,Archana Raja,Karen P. Dalton,Jimmy Zhen,Young Suk Kim,Jeffrey W. Christle,Shruti Marwaha,Elizabeth T Chin,Steven G. Hershman,Trevor Hastie,Robert Tibshirani,Manuel A. Rivas +179 more
TL;DR: The Molecular Transducers of Physical Activity Consortium (MoTrPAC) will provide a public database that is expected to enhance the understanding of the health benefits of exercise and to provide insight into how physical activity mitigates disease.
Journal ArticleDOI
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese,Vandana Shashi,Rebecca C. Spillmann,Nicholas Stong,Jill A. Rosenfeld,Mary Kay Koenig,Julian A. Martinez-Agosto,Matthew Herzog,Agnes Chen,Patricia I. Dickson,Henry J. Lin,Moin Vera,Noriko Salamon,John M. Graham,Damara Ortiz,Elena Infante,Wouter Steyaert,Bart Dermaut,Bruce Poppe,Hyunglok Chung,Zhen Zuo,Pei-Tseng Lee,Oguz Kanca,Fan Xia,Yaping Yang,Edward C. Smith,Joan Jasien,Sujay Kansagra,Gail A. Spiridigliozzi,Mays A. El-Dairi,Robert K. Lark,Kacie Riley,Dwight D. Koeberl,Katie Golden-Grant,Steven Callens,Paul Coucke,Dimitri Hemelsoet,Wim Terryn,Rudy Van Coster,David R. Adams,Mercedes E. Alejandro,Patrick Allard,Mahshid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Gabriel F. Batzli,Alan H. Beggs,Babak Behnam,Anna Bican,David P. Bick,Camille L. Birch,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Donna M. Brown,Matthew H. Brush,Elizabeth A. Burke,Lindsay C. Burrage,Shan Chen,Gary D. Clark,Terra R. Coakley,Joy D. Cogan,Cynthia M. Cooper,Heidi Cope,William J. Craigen,Precilla D'Souza,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Ani Dillon,Katrina M. Dipple,Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,David J. Eckstein,Lisa Emrick,Christine M. Eng,Ascia Eskin,Cecilia Esteves,Tyra Estwick,Carlos Ferreira,Brent L. Fogel,Noah D. Friedman,William A. Gahl,Emily Glanton,Rena A. Godfrey,David Goldstein,Sarah E. Gould,Jean-Philippe F. Gourdine,Catherine Groden,Andrea L. Gropman,Melissa A. Haendel,Rizwan Hamid,Neil A. Hanchard,Lori H. Handley,Matthew R. Herzog,Ingrid A. Holm,Jason Hom,Ellen M. Howerton,Yong Huang,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela Jones,Isaac S. Kohane,Donna M. Krasnewich,Elizabeth L. Krieg,Joel B. Krier,Seema R. Lalani,C. Christopher Lau,Jozef Lazar,Brendan Lee,Hane Lee,Shawn Levy,Richard A. Lewis,Sharyn A. Lincoln,Allen Lipson,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen Macnamara,Calum A. MacRae,Valerie Maduro,Marta M. Majcherska,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Shruti Marwaha,Thomas May,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray,Matthew Might,Paolo Moretti,Marie Morimoto,John J.E. Mulvihill,Jennifer L. Murphy,Donna M. Muzny,Michele Nehrebecky,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Jordan S. Orange,J. Carl Pallais,Christina G.S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren D.M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Chloe M. Reuter,Amy K. Robertson,Lance H. Rodan,Jacinda B. Sampson,Susan L. Samson,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Rebecca Signer,Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Kimberly Splinter,Joan M. Stoler,Jennifer A. Sullivan,David A. Sweetser,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Zaheer M. Valivullah,Eric Vilain,Tiphanie P. Vogel,Colleen E. Wahl,Nicole M. Walley,Christopher A. Walsh,Patricia A. Ward,Katrina M. Waters,Monte Westerfield,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Shinya Yamamoto,Guoyun Yu,Diane B. Zastrow,Allison Zheng,Allison Zheng,Michael F. Wangler,Michael F. Wangler,Ghayda M. Mirzaa,Ghayda M. Mirzaa,B. Lee,Stanley F. Nelson,Hugo J. Bellen +207 more
TL;DR: The results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species.
Journal ArticleDOI
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Monika Oláhová,Wan Hee Yoon,Kyle Thompson,Sharayu Jangam,Liliana Fernandez,Jean M. Davidson,Jennifer E. Kyle,Megan E. Grove,Dianna G. Fisk,Jennefer N. Kohler,Matthew Holmes,Annika M. Dries,Yong Huang,Chunli Zhao,Kévin Contrepois,Zachary Zappala,Laure Fresard,Daryl Waggott,Erika M. Zink,Young-Mo Kim,Heino M. Heyman,Kelly L. Stratton,Bobbie-Jo M. Webb-Robertson,David R. Adams,Mercedes E. Alejandro,Patrick Allard,Mahshid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Gabriel F. Batzli,Alan H. Beggs,Babak Behnam,Anna Bican,David P. Bick,Camille L. Birch,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Donna M. Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Shan Chen,Gary D. Clark,Terra R. Coakley,Joy D. Cogan,Cynthia M. Cooper,Heidi Cope,William J. Craigen,Precilla D'Souza,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Ani Dillon,Katrina M. Dipple,Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,David J. Eckstein,Lisa Emrick,Christine M. Eng,Ascia Eskin,Cecilia Esteves,Tyra Estwick,Carlos Ferreira,Brent L. Fogel,Noah D. Friedman,William A. Gahl,Emily Glanton,Rena A. Godfrey,David Goldstein,Sarah E. Gould,Jean-Philippe F. Gourdine,Catherine Groden,Andrea L. Gropman,Melissa A. Haendel,Rizwan Hamid,Neil A. Hanchard,Lori H. Handley,Matthew R. Herzog,Ingrid A. Holm,Jason Hom,Ellen M. Howerton,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela Jones,Isaac S. Kohane,Donna M. Krasnewich,Elizabeth L. Krieg,Joel B. Krier,Seema R. Lalani,C. Christopher Lau,Jozef Lazar,Brendan Lee,Hane Lee,Shawn Levy,Richard A. Lewis,Sharyn A. Lincoln,Allen Lipson,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen Macnamara,Calum A. MacRae,Valerie Maduro,Marta M. Majcherska,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Julian A. Martinez-Agosto,Shruti Marwaha,Thomas May,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray,Matthew Might,Paolo Moretti,Marie Morimoto,John J.E. Mulvihill,Jennifer L. Murphy,Donna M. Muzny,Michele Nehrebecky,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Jordan S. Orange,J. Carl Pallais,Christina G.S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren D.M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Chloe M. Reuter,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Jacinda B. Sampson,Susan L. Samson,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Vandana Shashi,Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Rebecca C. Spillmann,Kimberly Splinter,Joan M. Stoler,Nicholas Stong,Jennifer A. Sullivan,David A. Sweetser,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Zaheer M. Valivullah,Eric Vilain,Tiphanie P. Vogel,Colleen E. Wahl,Nicole M. Walley,Christopher A. Walsh,Patricia A. Ward,Katrina M. Waters,Monte Westerfield,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Shinya Yamamoto,Yaping Yang,Guoyun Yu,Diane B. Zastrow,Allison Zheng,Michael Snyder,Jason D. Merker,Stephen B. Montgomery,Paul G. Fisher,René G. Feichtinger,Johannes A. Mayr,Julie Hall,Ines A. Barbosa,Michael A. Simpson,Charu Deshpande,David M. Koeller,Thomas O. Metz,Andrew A. M. Morris,Andrew A. M. Morris,Susan Schelley,Tina M. Cowan,Marisa W. Friederich,Robert McFarland,Johan L.K. Van Hove,Gregory M. Enns,Euan A. Ashley,Michael F. Wangler,Michael F. Wangler,Robert W. Taylor,Hugo J. Bellen,Jonathan A. Bernstein,Matthew T. Wheeler +214 more
TL;DR: Two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia are described, establishing c.245C>T and c.317T>G as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.