H
Heather C Mefford
Researcher at University of Washington
Publications - 504
Citations - 21890
Heather C Mefford is an academic researcher from University of Washington. The author has contributed to research in topics: GeneReviews & Epilepsy. The author has an hindex of 59, co-authored 479 publications receiving 18759 citations. Previous affiliations of Heather C Mefford include University of Adelaide & St. Jude Children's Research Hospital.
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Journal ArticleDOI
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng,Abigail W. Bigham,Kati J. Buckingham,Mark C. Hannibal,Mark C. Hannibal,Margaret J. McMillin,Heidi I. S. Gildersleeve,Anita E. Beck,Anita E. Beck,Holly K. Tabor,Holly K. Tabor,Gregory M. Cooper,Heather C Mefford,Choli Lee,Emily H. Turner,Joshua D. Smith,Mark J. Rieder,Koh-ichiro Yoshiura,Naomichi Matsumoto,Tohru Ohta,Norio Niikawa,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad,Jay Shendure +24 more
TL;DR: The results strongly suggest that mutations in MLL2, which encodes a Trithorax-group histone methyltransferase, are a major cause of Kabuki syndrome.
Journal ArticleDOI
De novo mutations in epileptic encephalopathies
Andrew S. Allen,Samuel F. Berkovic,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Yujun Han,Erin L. Heinzen,Yuki Hitomi,Katherine B. Howell,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Yi-Fan Lu,Maura Madou,Anthony G Marson,Heather C Mefford,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Slavé Petrovski,Annapurna Poduri,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Christopher J. Yuskaitis,Bassel Abou-Khalil,Brian K. Alldredge,Jocelyn F. Bautista,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Simon Glynn,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Juliann M. Paolicchi,Jack M. Parent,Jack M. Parent,Kristen Park,Renée A. Shellhaas,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +72 more
TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.
Journal ArticleDOI
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J. O'Roak,Laura Vives,Wenqing Fu,Jarrett D. Egertson,Ian B. Stanaway,Ian G. Phelps,Ian G. Phelps,Gemma L. Carvill,Gemma L. Carvill,Akash Kumar,Choli Lee,Katy Ankenman,Jeff Munson,Joseph B. Hiatt,Emily H. Turner,Roie Levy,Diana R. O’Day,Niklas Krumm,Bradley P. Coe,Beth Martin,Elhanan Borenstein,Elhanan Borenstein,Deborah A. Nickerson,Heather C Mefford,Heather C Mefford,Dan Doherty,Dan Doherty,Joshua M. Akey,Raphael Bernier,Evan E. Eichler,Evan E. Eichler,Jay Shendure +31 more
TL;DR: The modified molecular inversion probe method was applied to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder, supporting the notion that multiple genes underlie autism-spectrum disorders.
Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier,Christelle Golzio,Bo Xiong,Holly A.F. Stessman,Bradley P. Coe,Osnat Penn,Kali Witherspoon,Jennifer Gerdts,Carl Baker,Anneke T. Vulto-van Silfhout,Janneke H M Schuurs-Hoeijmakers,Marco Fichera,Paolo Bosco,Serafino Buono,Antonino Alberti,Pinella Failla,Hilde Peeters,Jean Steyaert,Jean Steyaert,Lisenka E.L.M. Vissers,Ludmila Francescatto,Heather C Mefford,Jill A. Rosenfeld,Trygve E. Bakken,Brian J. O'Roak,Matthew R. Pawlus,Randall T. Moon,Randall T. Moon,Jay Shendure,David G. Amaral,Ed S. Lein,Julia Rankin,Corrado Romano,Bert B.A. de Vries,Nicholas Katsanis,Evan E. Eichler,Evan E. Eichler +36 more
TL;DR: It is indicated that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.