L
Lynne A. Wolfe
Researcher at National Institutes of Health
Publications - 106
Citations - 4045
Lynne A. Wolfe is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 28, co-authored 87 publications receiving 3019 citations. Previous affiliations of Lynne A. Wolfe include University of Pittsburgh & Boston Children's Hospital.
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Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel-Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O'Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
Journal ArticleDOI
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh,Amy Goldstein,Mary Kay Koenig,Fernando Scaglia,Gregory M. Enns,Russell P. Saneto,Irina Anselm,Bruce H. Cohen,Marni J. Falk,Carol L. Greene,Andrea L. Gropman,Richard Haas,Michio Hirano,Phil G. Morgan,Katherine B. Sims,Mark A. Tarnopolsky,Johan L.K. Van Hove,Lynne A. Wolfe,Salvatore DiMauro +18 more
TL;DR: This statement is intended for physicians who are engaged in diagnosing and treating patients with suspected or demonstrated mitochondrial disease and to provide recommendations for optimal diagnosis and treatment.
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
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh,Amy Goldstein,Amel Karaa,Mary Kay Koenig,Irina Anselm,Catherine Brunel-Guitton,John Christodoulou,Bruce H. Cohen,David Dimmock,Gregory M. Enns,Marni J. Falk,Annette Feigenbaum,Annette Feigenbaum,Richard E. Frye,Jaya Ganesh,David Griesemer,Richard H. Haas,Richard H. Haas,Rita Horvath,Mark S. Korson,Michael C. Kruer,Michelangelo Mancuso,Shana E. McCormack,Marie Josee Raboisson,Tyler Reimschisel,Ramona Salvarinova,Russell P. Saneto,Fernando Scaglia,John M. Shoffner,Peter W. Stacpoole,Carolyn M. Sue,Mark A. Tarnopolsky,Clara D.M. van Karnebeek,Clara D.M. van Karnebeek,Lynne A. Wolfe,Zarazuela Zolkipli Cunningham,Shamima Rahman,Patrick F. Chinnery +37 more
TL;DR: The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease.
Journal ArticleDOI
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Yu Zhang,Xiaomin Yu,Mie Ichikawa,Jonathan J. Lyons,Shrimati Datta,Ian T. Lamborn,Huie Jing,Emily S. Kim,Matthew Biancalana,Lynne A. Wolfe,Thomas DiMaggio,Helen F. Matthews,Sarah M. Kranick,Kelly D. Stone,Steven M. Holland,Daniel S. Reich,Jason D. Hughes,Huseyin Mehmet,Joshua J McElwee,Alexandra F. Freeman,Hudson H. Freeze,Helen C. Su,Joshua D. Milner +22 more
TL;DR: In this paper, the authors defined a genetic syndrome of severe atopy, increased serum IgE levels, immune deficiency, autoimmunity, and motor and neurocognitive impairment.