N
Naghmeh Dorrani
Researcher at University of California, Los Angeles
Publications - 55
Citations - 2812
Naghmeh Dorrani is an academic researcher from University of California, Los Angeles. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 23, co-authored 46 publications receiving 2126 citations. Previous affiliations of Naghmeh Dorrani include University of Adelaide & University of California, Davis.
Papers
More filters
Journal ArticleDOI
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee,Joshua L. Deignan,Naghmeh Dorrani,Samuel P. Strom,Sibel Kantarci,Fabiola Quintero-Rivera,Kingshuk Das,Traci Toy,Bret Harry,Michael Yourshaw,Michelle Fox,Brent L. Fogel,Julian A. Martinez-Agosto,Derek Wong,Vivian Y. Chang,Perry B. Shieh,Christina G.S. Palmer,Katrina M. Dipple,Wayne W. Grody,Eric Vilain,Stanley F. Nelson +20 more
TL;DR: Initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types are reported, and trio-CES was associated with higher molecular diagnostic yield than proband-Ces or traditional molecular diagnostic methods.
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
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Ryan L. Collins,Ryan L. Collins,Harrison Brand,Harrison Brand,Claire Redin,Claire Redin,Carrie Hanscom,Carrie Hanscom,Caroline Antolik,Caroline Antolik,Matthew R. Stone,Matthew R. Stone,Joseph T. Glessner,Joseph T. Glessner,Tamara Mason,Giulia Pregno,Naghmeh Dorrani,Giorgia Mandrile,Daniela Giachino,Danielle Perrin,Cole Walsh,Michelle Cipicchio,Maura Costello,Alexei Stortchevoi,Alexei Stortchevoi,Joon Yong An,Benjamin Currall,Benjamin Currall,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Ashok Ragavendran,Ashok Ragavendran,Lauren Margolin,Julian A. Martinez-Agosto,Diane Lucente,Brynn Levy,Stephen Sanders,Ronald J. Wapner,Fabiola Quintero-Rivera,Wigard P. Kloosterman,Michael E. Talkowski,Michael E. Talkowski +42 more
TL;DR: A genome-wide map of large SV is constructed and 16 recurrent subclasses of complex SV (cxSV) are characterized, revealing that cxSV are larger and rarer than canonical SV and should be considered in genomic studies of human disease.
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.
Journal ArticleDOI
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
Carolyn Schanen,Elisa J. F. Houwink,Elisa J. F. Houwink,Naghmeh Dorrani,Jane B. Lane,Ruth Everett,Ruth Everett,Alice Feng,Rita M. Cantor,Alan K. Percy,Alan K. Percy +10 more
TL;DR: The impact of specific mutations coupled with possible variation in X‐chromosome inactivation must be considered carefully in the derivation of phenotype‐genotype correlations, and the limitations of such analyses in larger mutation groups, either by type or position are emphasized.