Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Author(s) -
Ana S.A. Cohen,
Emily Farrow,
Ahmed Abdelmoity,
Joseph T. Alaimo,
Shivarajan Amudhavalli,
John T. Anderson,
Lalit Bansal,
Lauren Bartik,
Primo Baybayan,
Bradley Belden,
Courtney Berrios,
Rebecca Biswell,
Pawel Buczkowicz,
Orion J. Buske,
Shreyasee Chakraborty,
Warren Cheung,
Keith A. Coffman,
Ashley M. Cooper,
Laura Cross,
Tom Curran,
Thuy Tien T. Dang,
Mary Elfrink,
Kendra Engleman,
Erin Fecske,
Cynthia Fieser,
Keely Fitzgerald,
Emily Fleming,
Randi Gadea,
Jennifer Gan,
Rose GelineauMorel,
Margaret Gibson,
Jeffrey A. Goldstein,
Elin Grundberg,
Kelsee Halpin,
Brian S. Harvey,
Bryce A. Heese,
Wendy Hein,
Suzanne Herd,
Susan Hughes,
Mohammed Ilyas,
Jill D. Jacobson,
Janda Jenkins,
Jiang Shao,
Jeffrey Johnston,
Kathryn Keeler,
Jonas Korlach,
Jennifer Kussmann,
Christine Lambert,
Caitlin E. Lawson,
JeanBaptiste Le Pichon,
J. Steven Leeder,
Vicki C. Little,
Daniel Louiselle,
Michael Lypka,
Brittany McDonald,
Neil Miller,
Ann Modrcin,
Annapoorir,
Shelby H. Neal,
Christopher M. Oermann,
Donna Pacicca,
Kailash Pawar,
Nyshele Posey,
Nigel Price,
Laura Puckett,
Julio Quezada,
Nikita Raje,
William J. Rowell,
Eric T. Rush,
Venkatesh Sampath,
Carol Saunders,
Caitlin Schwager,
Richard M. Schwend,
Elizabeth Shaffer,
Craig Smail,
Sarah Soden,
Meghan E. Strenk,
Bonnie Sullivan,
Brooke Sweeney,
Jade TamWilliams,
Adam M. Walter,
Holly Welsh,
Aaron M. Wenger,
Laurel K. Willig,
Yun Yan,
Scott T. Younger,
Dihong Zhou,
Tricia Zion,
Isabelle Thiffault,
Tomi Pastinen
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.02.007
Subject(s) - genome , computational biology , genetics , disease , biology , medicine , gene
This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.
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