G
Gretchen Golas
Researcher at National Institutes of Health
Publications - 35
Citations - 2435
Gretchen Golas is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Exome sequencing & Compound heterozygosity. The author has an hindex of 24, co-authored 35 publications receiving 2025 citations.
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Journal ArticleDOI
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl,Thomas C. Markello,Camilo Toro,Karin Fuentes Fajardo,Murat Sincan,Fred Gill,Hannah Carlson-Donohoe,Andrea L. Gropman,Andrea L. Gropman,Tyler Mark Pierson,Gretchen Golas,Lynne A. Wolfe,Catherine Groden,Rena A. Godfrey,Michele Nehrebecky,Colleen E. Wahl,Dennis M.D. Landis,Sandra Yang,Anne Madeo,James C. Mullikin,Cornelius F. Boerkoel,Cynthia J. Tifft,David H. Adams +22 more
TL;DR: The National Institutes of Health Undiagnosed Diseases Program addresses an unmet need and may serve as a model for the clinical application of emerging genomic technologies and is providing insights into the characteristics of diseases that remain undiagnose after extensive clinical workup.
Journal ArticleDOI
GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
Tyler Mark Pierson,Hongjie Yuan,Eric D. Marsh,Karin Fuentes-Fajardo,David R. Adams,Thomas C. Markello,Gretchen Golas,Dimitre R. Simeonov,Conisha Holloman,Anel Tankovic,Manish M. Karamchandani,John M. Schreiber,James C. Mullikin,Cynthia J. Tifft,Camilo Toro,Cornelius F. Boerkoel,Stephen F. Traynelis,William A Gahl +17 more
TL;DR: Techniques of modern translational medicine are employed to identify a disease‐causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the proband.
Journal ArticleDOI
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Tyler Mark Pierson,David H. Adams,Florian Bonn,Paola Martinelli,Praveen F. Cherukuri,Jamie K. Teer,Nancy F. Hansen,Pedro Cruz,Robert W. Blakesley,Gretchen Golas,Justin Y. Kwan,Anthony D. Sandler,Karin Fuentes Fajardo,Thomas C. Markello,Cynthia J. Tifft,Craig Blackstone,Elena I. Rugarli,Thomas Langer,Thomas Langer,William A. Gahl,Camilo Toro +20 more
TL;DR: An early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy is reported.
Journal ArticleDOI
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang,Rami Al-Ouran,Yanhui Hu,Seon Young Kim,Ying-Wooi Wan,Michael F. Wangler,Shinya Yamamoto,Shinya Yamamoto,Hsiao-Tuan Chao,Aram Comjean,Stephanie E. Mohr,Christopher J. Adams,David R. Adams,Mercedes E. Alejandro,Patrick Allard,Euan A. Ashley,Mashid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Alan H. Beggs,Hugo J. Bellen,Jonathan A. Bernstein,Anna Bican,David P. Bick,Camille L. Birch,Braden E. Boone,Lauren C. Briere,Donna M. Brown,Matthew H. Brush,Elizabeth A. Burke,Lindsay C. Burrage,Katherine R. Chao,Gary D. Clark,Joy D. Cogan,Cynthia M. Cooper,William J. Craigen,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Katrina M. Dipple,Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,David D. Draper,Annika M. Dries,David J. Eckstein,Lisa Emrick,Christine M. Eng,Cecilia Esteves,Tyra Estwick,Paul G. Fisher,Trevor S. Frisby,Kate Frost,William A. Gahl,Valerie Gartner,Rena A. Godfrey,Mitchell Goheen,Gretchen Golas,David Goldstein,Mary “Gracie” G. Gordon,Sarah E. Gould,Jean-Philippe F. Gourdine,Brett H. Graham,Catherine Groden,Andrea L. Gropman,Mary E. Hackbarth,Melissa A. Haendel,Rizwan Hamid,Neil A. Hanchard,Lori H. Handley,Isabel Hardee,Matthew R. Herzog,Ingrid A. Holm,Ellen M. Howerton,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela Jones,Alanna E. Koehler,David M. Koeller,Isaac S. Kohane,Jennefer N. Kohler,Donna M. Krasnewich,Elizabeth L. Krieg,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Lea Latham,Yvonne L. Latour,C. Christopher Lau,Jozef Lazar,Brendan Lee,Hane Lee,Paul R. Lee,Shawn Levy,Denise J. Levy,Richard A. Lewis,Adam P. Liebendorfer,Sharyn A. Lincoln,Carson R. Loomis,Joseph Loscalzo,Richard L. Maas,Ellen Macnamara,Calum A. MacRae,Valerie Maduro,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Paul Mazur,Alexandra J. McCarty,Allyn McConkie-Rosell,Alexa T. McCray,Thomas O. Metz,Matthew Might,Paolo Moretti,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,Loren D.M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Rachel B. Ramoni,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Sarah Sadozai,Katherine E. Schaffer,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Vandana Shashi,Edwin K. Silverman,Janet S. Sinsheimer,Ariane Soldatos,Rebecca C. Spillmann,Kimberly Splinter,Joan M. Stoler,Nicholas Stong,Kimberly A. Strong,Jennifer A. Sullivan,David A. Sweetser,Sara P. Thomas,Cynthia J. Tifft,Nathanial J. Tolman,Camilo Toro,Alyssa A. Tran,Zaheer M. Valivullah,Eric Vilain,Daryl Waggott,Colleen E. Wahl,Nicole M. Walley,Christopher A. Walsh,Mike Warburton,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson,Alec A. Weech,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Yaping Yang,Guoyun Yu,Patricia A. Zornio,Norbert Perrimon,Norbert Perrimon,Zhandong Liu +185 more
TL;DR: MARRVEL dramatically improves efficiency and accessibility to data collection and facilitates analysis of human genes and variants by cross-disciplinary integration of 18 million records available in public databases to facilitate clinical diagnosis and basic research.
Journal ArticleDOI
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel B. Ramoni,Rachel B. Ramoni,John J. Mulvihill,David R. Adams,Patrick Allard,Euan A. Ashley,Jonathan A. Bernstein,William A. Gahl,Rizwan Hamid,Joseph Loscalzo,Alexa T. McCray,Vandana Shashi,Cynthia J. Tifft,Christopher J. Adams,Mercedes E. Alejandro,Mashid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Alan H. Beggs,Hugo J. Bellen,David Bernick,Anna Bican,David P. Bick,Camille L. Birch,Braden E. Boone,Lauren C. Briere,Donna M. Brown,Catherine A. Brownstein,Matthew H. Brush,Elizabeth A. Burke,Lindsay C. Burrage,Katherine R. Chao,Gary D. Clark,Joy D. Cogan,Cynthia M. Cooper,William J. Craigen,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Katrina M. Dipple,Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,David D. Draper,Annika M. Dries,Rachel Eastwood,David J. Eckstein,Lisa Emrick,Christine M. Eng,Cecilia Esteves,Tyra Estwick,Paul G. Fisher,Trevor S. Frisby,Kate Frost,Valerie Gartner,Rena A. Godfrey,Mitchell Goheen,Gretchen Golas,David Goldstein,Mary “Gracie” G. Gordon,Sarah E. Gould,Jean-Philippe F. Gourdine,Brett H. Graham,Catherine Groden,Andrea L. Gropman,Mary E. Hackbarth,Melissa A. Haendel,Neil A. Hanchard,Lori H. Handley,Isabel Hardee,Matthew R. Herzog,Ingrid A. Holm,Ellen M. Howerton,Brenda Iglesias,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela Jones,Alanna E. Koehler,David M. Koeller,Isaac S. Kohane,Jennefer N. Kohler,Donna M. Krasnewich,Elizabeth L. Krieg,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Lea Latham,Yvonne L. Latour,C. Christopher Lau,Jozef Lazar,Brendan Lee,Hane Lee,Paul R. Lee,Shawn Levy,Denise J. Levy,Richard A. Lewis,Adam P. Liebendorder,Sharyn A. Lincoln,Carson R. Loomis,Richard L. Maas,Ellen Macnamara,Calum A. MacRae,Valerie Maduro,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Casey Martin,Paul Mazur,Alexandra J. McCarty,Allyn McConkie-Rosell,Thomas O. Metz,Matthew Might,Paolo Moretti,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,Loren D.M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Sarah Sadozai,Katherine E. Schaffer,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Edwin K. Silverman,Janet S. Sinsheimer,Ariane Soldatos,Rebecca C. Spillmann,Kimberly Splinter,Joan M. Stoler,Nicholas Stong,Kimberly A. Strong,Jennifer A. Sullivan,David A. Sweetser,Sara P. Thomas,Nathanial J. Tolman,Camilo Toro,Alyssa A. Tran,Zaheer M. Valivullah,Eric Vilain,Daryl Waggott,Colleen E. Wahl,Nicole M. Walley,Christopher A. Walsh,Michael F. Wangler,Mike Warburton,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson,Alec A. Weech,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Shinya Yamamoto,Yaping Yang,Guoyun Yu,Patricia A. Zornio +179 more
TL;DR: The Undiagnosed Diseases Network is extended nationally to meld clinical and research objectives, improve patient outcomes, and contribute to medical science.