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Circulation. Genomic and Precision Medicine|July 7, 2023
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart DiseaseThomas Hays, Rebecca Hernan, Michele Disco, et al.
Human Genetics|January 29, 2013
Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutationErica S Rinella, Yongzhao Shao, Lauren Yackowski, et al.
Journal of Medical Genetics|October 12, 2012
De novo copy number variants are associated with congenital diaphragmatic herniaLan Yu, Julia Wynn, Lijiang Ma, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Nature Communications|November 21, 2013
Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorderTodd Lencz, Saurav Guha, Chunyu Liu, et al.
American Journal of Medical Genetics. Part A|December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohortJacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.
Human Molecular Genetics|May 21, 2014
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypesVladimir Vacic, Laurie J Ozelius, Lorraine N Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
Nature Communications|September 10, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European originsShai Carmi, Ken Y Hui, Ethan Kochav, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
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