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Proceedings of the National Academy of Sciences of the United States of America|June 16, 2004
A detailed physical map of the horse Y chromosomeTerje Raudsepp, Avni Santani, Barbara Wallner, et al.
The Journal of Molecular Diagnostics : JMD|December 16, 2023
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic CounselorsJeffrey A SoRelle, Birgit H Funke, Celeste C Eno, et al.
Archives of Pathology & Laboratory Medicine|January 13, 2026
Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome SequencingRyan J Schmidt, Birgit Funke, Ann King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2016
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencingDiana Mandelker, Ryan J Schmidt, Arunkanth Ankala, et al.
The Journal of Molecular Diagnostics : JMD|December 22, 2020
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier ScreeningMarco L Leung, Sallie McAdoo, Deborah Watson, et al.
American Journal of Medical Genetics. Part A|June 26, 2015
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disordersAddie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, et al.
Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
American Journal of Human Genetics|March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic featuresEmma Tham, Anna Lindstrand, Avni Santani, et al.
Genes, Chromosomes & Cancer|March 18, 2011
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndromeJihane N Benhammou, Cathy D Vocke, Avni Santani, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndromeKatheryn Grand, Cara M Skraban, Jennifer L Cohen, et al.
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