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Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing
Author(s) -
Jill L. Maron,
Stephen F. Kingsmore,
Kristen Wigby,
Shimul Chowdhury,
David Dimmock,
Brenda B. Poindexter,
Kristen Suhrie,
Jerry Vockley,
Thomas G. Diacovo,
Bruce D. Gelb,
Annemarie Stroustrup,
Cynthia M. Powell,
Andrea Trembath,
Matthew Gallen,
Thomas E. Mullen,
Pranoot Tanpaiboon,
Dallas Reed,
Anne Kurfiss,
Jonathan M. Davis
Publication year - 2021
Publication title -
jama pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.004
H-Index - 183
eISSN - 2168-6211
pISSN - 2168-6203
DOI - 10.1001/jamapediatrics.2020.5906
Subject(s) - medicine , proband , concordance , genetic testing , medical genetics , interim , genomics , pediatrics , genomic sequencing , bioinformatics , genetics , mutation , genome , gene , biology , history , archaeology

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