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Ingrid A. Holm
Researcher at Boston Children's Hospital
Publications - 196
Citations - 10516
Ingrid A. Holm is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 44, co-authored 166 publications receiving 8572 citations. Previous affiliations of Ingrid A. Holm include National Institutes of Health & Harvard University.
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Journal ArticleDOI
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
Jeffrey R. Botkin,John W. Belmont,Jonathan S. Berg,Benjamin E. Berkman,Yvonne Bombard,Ingrid A. Holm,Howard P. Levy,Kelly E. Ormond,Howard M. Saal,Nancy B. Spinner,Benjamin S. Wilfond,Joseph D. McInerney +11 more
TL;DR: This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children and a broad range of test technologies and their applications in clinical medicine and research.
Journal ArticleDOI
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss,Lauren A. Weiss,Dan E. Arking,Mark J. Daly,Mark J. Daly,Aravinda Chakravarti,Camille W. Brune,Kristen West,Ashley O'Connor,Gina Hilton,Rebecca L. Tomlinson,Andrew B. West,Edwin H. Cook,Todd Green,Shun-Chiao Chang,Stacey Gabriel,Casey Gates,Ellen M. Hanson,Andrew Kirby,Andrew Kirby,Joshua M. Korn,Joshua M. Korn,Finny G Kuruvilla,Finny G Kuruvilla,Steven A. McCarroll,Steven A. McCarroll,Eric M. Morrow,Eric M. Morrow,Eric M. Morrow,Benjamin M. Neale,Benjamin M. Neale,Shaun Purcell,Shaun Purcell,Roksana Sasanfar,Carrie Sougnez,Christine Stevens,David Altshuler,David Altshuler,James F. Gusella,James F. Gusella,Susan L. Santangelo,Pamela Sklar,Pamela Sklar,Rudolph E. Tanzi,Richard Anney,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Catalina Betancur,Sven Bölte,Patrick Bolton,Jessica Brian,Susan E. Bryson,Joseph D. Buxbaum,Inês Cabrito,Guiqing Cai,Rita M. Cantor,Hilary Coon,Judith Conroy,Catarina Correia,Christina Corsello,Emily L. Crawford,Michael L. Cuccaro,Geraldine Dawson,Maretha de Jonge,Bernie Devlin,Eftichia Duketis,Sean Ennis,Annette Estes,Penny Farrar,Eric Fombonne,Christine M. Freitag,Louise Gallagher,Daniel H. Geschwind,John R. Gilbert,Michael Gill,Christopher Gillberg,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Jonathan L. Haines,Joachim Hallmayer,Vanessa Hus,Sabine M. Klauck,Olena Korvatska,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventha,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Elena Maestrini,Tiago R. Magalhaes,William M. Mahoney,Carine Mantoulan,Helen McConachie,Christopher J. McDougle,William M. McMahon,Christian R. Marshall,Judith Miller,Nancy J. Minshew,Anthony P. Monaco,Jeff Munson,John I. Nurnberger,Guiomar Oliveira,Alistair T. Pagnamenta,Katerina Papanikolaou,Jeremy R. Parr,Andrew D. Paterson,Margaret A. Pericak-Vance,Andrew Pickles,Dalila Pinto,Joseph Piven,David J. Posey,Annemarie Poustka,Fritz Poustka,Regina Regan,Jennifer Reichert,Katy Renshaw,Wendy Roberts,Bernadette Rogé,Michael Rutter,Jeff Salt,Gerard D. Schellenberg,Stephen W. Scherer,Val C. Sheffield,James S. Sutcliffe,Peter Szatmari,Katherine E. Tansey,Ann P. Thompson,John Tsiantis,Herman van Engeland,Astrid M. Vicente,Veronica J. Vieland,Fred R. Volkmar,Simon Wallace,Thomas H. Wassink,Ellen M. Wijsman,Kirsty Wing,Kerstin Wittemeyer,Brian L. Yaspan,Lonnie Zwaigenbaum,Seung Yun Yoo,Seung Yun Yoo,Seung Yun Yoo,Robert Sean Hill,Robert Sean Hill,Robert Sean Hill,Nahit Motavalli Mukaddes,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Samira Al-Saad,Asif Hashmi,Janice Ware,Robert M. Joseph,Elaine LeClair,Jennifer N. Partlow,Jennifer N. Partlow,Brenda E. Barry,Brenda E. Barry,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,David L. Pauls,Irma Moilanen,Hanna Ebeling,Marja Leena Mattila,Sanna Kuusikko,Katja Jussila,Jaakko Ignatius,Ala Tolouei,Majid Ghadami,Maryam Rostami,Azam Hosseinipour,Maryam Valujerdi,Kara Andresen,Brian Winkloski,Stephen A. Haddad,Lou Kunkel,Zak Kohane,Tram Tran,Sek Won Kong,Stephanie Brewster O'Neil,Rachel J. Hundley,Ingrid A. Holm,Heather Peters,Elizabeth Baroni,Aislyn Cangialose,Lindsay Jackson,Lisa H. Albers,Ronald E. Becker,Carolyn Bridgemohan,Sandra L. Friedman,Kerim Munir,Ramzi Nazir,Judith S. Palfrey,Alison Schonwald,Esau Simmons,Leonard Rappaport,Julie Gauthier,Laurent Mottron,Ridha Joober,Guy A. Rouleau,Karola Rehnström,Karola Rehnström,Lennart von Wendt,Lennart von Wendt,Leena Peltonen,Leena Peltonen,Leena Peltonen +214 more
TL;DR: A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms in a common set of 1,031 multiplex autism families, implicating SEMA5A as an autism susceptibility gene.
Journal ArticleDOI
A clinician's guide to X-linked hypophosphatemia.
TL;DR: This perspective addresses the recommendation by conferees for the dissemination of concise and accessible treatment guidelines for clinicians arising from the Advances in Rare Bone Diseases Scientific Conference held at the NIH in October 2008.
Journal ArticleDOI
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A. Brownstein,Alan H. Beggs,Nils Homer,Barry Merriman,Timothy W. Yu,Katherine C. Flannery,Elizabeth T. DeChene,Meghan C. Towne,Sarah K. Savage,Emily N. Price,Ingrid A. Holm,Lovelace J. Luquette,Elaine Lyon,Joseph A. Majzoub,Peter Neupert,David McCallie,Peter Szolovits,Huntington F. Willard,Nancy J. Mendelsohn,Renee Temme,Richard S. Finkel,Sabrina W. Yum,Livija Medne,Shamil R. Sunyaev,Ivan Adzhubey,Christopher A. Cassa,Paul I.W. de Bakker,Paul I.W. de Bakker,Hatice Duzkale,Piotr Dworzynski,William G. Fairbrother,Laurent C. Francioli,Birgit Funke,Monica A. Giovanni,Robert E. Handsaker,Kasper Lage,Matthew S. Lebo,Monkol Lek,Ignaty Leshchiner,Daniel G. MacArthur,Heather M. McLaughlin,Michael F. Murray,Tune H. Pers,Paz Polak,Soumya Raychaudhuri,Heidi L. Rehm,Rachel Soemedi,Nathan O. Stitziel,Sara Vestecka,Jochen Supper,Claudia Gugenmus,Bernward Klocke,Alexander Hahn,Max Schubach,Mortiz Menzel,Saskia Biskup,Peter Freisinger,Mario Deng,Martin Braun,Sven Perner,Richard J.H. Smith,Janeen L. Andorf,Jian Huang,Kelli K. Ryckman,Val C. Sheffield,Val C. Sheffield,Edwin M. Stone,Edwin M. Stone,Thomas B. Bair,E. Ann Black-Ziegelbein,Terry A. Braun,Benjamin W. Darbro,Adam P. DeLuca,Diana L. Kolbe,Todd E. Scheetz,Aiden Eliot Shearer,Rama Sompallae,Kai Wang,Alexander G. Bassuk,Erik Edens,Katherine D. Mathews,Steven A. Moore,Oleg A. Shchelochkov,Pamela Trapane,Aaron D. Bossler,Colleen A. Campbell,Jonathan W. Heusel,Anne E. Kwitek,Tara Maga,Karin Panzer,Thomas H. Wassink,Douglas J. Van Daele,Hela Azaiez,Kevin T. Booth,Nic Meyer,Michael M. Segal,Marc S. Williams,Gerard Tromp,Peter White,Donald J. Corsmeier,Sara Fitzgerald-Butt,Gail E. Herman,Devon Lamb-Thrush,Kim L. McBride,David L. Newsom,Christopher R. Pierson,Alexander T. Rakowsky,Aleš Maver,Luca Lovrečić,Anja Palandačić,Anja Palandačić,Borut Peterlin,Ali Torkamani,Anna Wedell,Anna Wedell,Anna Wedell,Mikael Huss,Andrey Alexeyenko,Jessica M. Lindvall,Måns Magnusson,Måns Magnusson,Måns Magnusson,Daniel Nilsson,Daniel Nilsson,Daniel Nilsson,Henrik Stranneheim,Henrik Stranneheim,Henrik Stranneheim,Fulya Taylan,Christian Gilissen,Alexander Hoischen,Bregje W.M. van Bon,Helger G. Yntema,Marcel R. Nelen,Weidong Zhang,Jason Sager,Lu Zhang,Kathryn Blair,Deniz Kural,Michael Cariaso,Greg Lennon,Asif Javed,Saloni Agrawal,Pauline C. Ng,Komal S. Sandhu,Shuba Krishna,Vamsi Veeramachaneni,Ofer Isakov,Eran Halperin,Eitan Friedman,Noam Shomron,Gustavo Glusman,Jared C. Roach,Juan Caballero,Hannah C. Cox,Denise E. Mauldin,Seth A. Ament,Lee Rowen,Daniel R. Richards,F. Anthony San Lucas,Manuel L. Gonzalez-Garay,C. Thomas Caskey,Yu Bai,Ying Huang,Fang Fang,Yan Zhang,Zhengyuan Wang,Jorge Barrera,Juan M. García-Lobo,Domingo González-Lamuño,Javier Llorca,María Cruz Rodríguez,Ignacio Varela,Martin G. Reese,Francisco M. De La Vega,Edward S. Kiruluta,Michele Cargill,Reece K. Hart,Jon M. Sorenson,Gholson J. Lyon,Gholson J. Lyon,David A. Stevenson,Bruce E. Bray,Barry Moore,Karen Eilbeck,Mark Yandell,Hongyu Zhao,Lin Hou,Xiaowei Chen,Xiting Yan,Mengjie Chen,Cong Li,Can Yang,Murat Gunel,Peining Li,Yong Kong,Austin C. Alexander,Zayed Albertyn,Kym M. Boycott,Dennis E. Bulman,Paul M. K. Gordon,A. Micheil Innes,Bartha Maria Knoppers,Jacek Majewski,Christian R. Marshall,Jillian S. Parboosingh,Sarah L. Sawyer,Mark E. Samuels,Jeremy Schwartzentruber,Isaac S. Kohane,David M. Margulies +210 more
TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.
Journal ArticleDOI
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis,Anthony A. Philippakis,Anthony A. Philippakis,Danielle R. Azzariti,Sergi Beltran,Anthony J. Brookes,Catherine A. Brownstein,Catherine A. Brownstein,Michael Brudno,Han G. Brunner,Han G. Brunner,Orion J. Buske,Knox Carey,Cassie Doll,Sergiu Dumitriu,Stephanie O.M. Dyke,Johan T. den Dunnen,Helen V. Firth,Richard A. Gibbs,Marta Girdea,Michael A. Gonzalez,Melissa A. Haendel,Ada Hamosh,Ingrid A. Holm,Ingrid A. Holm,Lijia Huang,Matthew E. Hurles,Ben Hutton,Joel B. Krier,Joel B. Krier,Andriy Misyura,Christopher J. Mungall,Justin Paschall,Benedict Paten,Peter N. Robinson,François Schiettecatte,Nara Sobreira,Ganesh J. Swaminathan,Peter E.M. Taschner,Peter E.M. Taschner,Sharon F. Terry,Nicole L. Washington,Stephan Züchner,Kym M. Boycott,Heidi L. Rehm +44 more
TL;DR: The Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API).