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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 28, 2013
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health recordPeter Tarczy-Hornoch, Laura Amendola, Samuel J Aronson, et al.
American Journal of Medical Genetics. Part A|January 8, 2008
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionJayne S Weiss, Howard S Kruth, Helena Kuivaniemi, et al.
Human Genetics|March 23, 2004
Fine mapping of the Schnyder's crystalline corneal dystrophy locusVeena Theendakara, Gerard Tromp, Helena Kuivaniemi, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Circulation Research|September 11, 2014
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataJoseph T Glessner, Alexander G Bick, Kaoru Ito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 5, 2019
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning systemKenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2019
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning systemKenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
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