Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Autor: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

Publikováno v: Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 193-205 (2022)

Abstract Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of

Externí odkaz: https://doaj.org/article/15b21aa620bf4d56a284aca4377297fb

A survey of aortic disease biorepository participants’ preferences for return of research genetic results

Autor: J. Scott Roberts, Wendy R. Uhlmann, Whitney E. Hornsby, Jamie Love-Nichols, Patricia Arscott, Cristen J. Willer

Publikováno v: J Genet Couns

There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n = 225, 79%

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ca5e3f99eb333c9a625433487324c8
https://doi.org/10.1002/jgc4.1341

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

Autor: Farmer CA; Cristan A. Farmer, National Institute of Mental Health., Kaat AJ; Aaron J. Kaat, Northwestern University., Thurm A; Audrey Thurm, National Institute of Mental Health., Anselm I; Irina Anselm, Boston Children's Hospital and Harvard University., Akshoomoff N; Natacha Akshoomoff, University of California San Diego., Bennett A; Amanda Bennett, Children's Hospital of Philadelphia., Berry L; Leandra Berry, Baylor College of Medicine., Bruchey A; Aleksandra Bruchey, Lumos Pharma, Inc., Barshop BA; Bruce A. Barshop, University of California San Diego., Berry-Kravis E; Elizabeth Berry-Kravis, Rush University., Bianconi S; Simona Bianconi, Eunice Kennedy Shriver National Institute of Child Health and Human Development., Cecil KM; Kim M. Cecil, University of Cincinnati., Davis RJ; Robert J. Davis, Lumos Pharma, Inc., Ficicioglu C; Can Ficicioglu, Children's Hospital of Philadelphia and University of Pennsylvania., Porter FD; Forbes D. Porter, Eunice Kennedy Shriver National Institute of Child Health and Human Development., Wainer A; Allison Wainer, Rush University., Goin-Kochel RP; Robin P. Goin-Kochel, Baylor College of Medicine., Leonczyk C; Caroline Leonczyk, Rush University., Guthrie W; Whitney Guthrie, Children's Hospital of Philadelphia., Koeberl D; Dwight Koeberl, Duke University., Love-Nichols J; Jamie Love-Nichols, Boston Children's Hospital and Harvard University., Mamak E; Eva Mamak, The Hospital for Sick Children., Mercimek-Andrews S; Saadet Mercimek Andrews, University of Toronto, The Hospital for Sick Children, ON., Thomas RP; Rebecca P. Thomas, Children's Hospital of Philadelphia., Spiridigliozzi GA; Gail A. Spiridigliozzi, Duke University., Sullivan N; Nancy Sullivan, Boston Children's Hospital and Harvard Medical School., Sutton VR; Vernon R. Sutton, Baylor College of Medicine., Udhnani MD; Manisha D. Udhnani, Children's Hospital of Philadelphia., Waisbren SE; Susan E. Waisbren, Boston Children's Hospital and Harvard University., Miller JS; Judith S. Miller, University of Pennsylvania.

Publikováno v: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2020 Nov 01; Vol. 125 (6), pp. 475-480.