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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical careCourtney Berrios, Emily A Hurley, Laurel Willig, et al.
American Journal of Medical Genetics. Part A|August 1, 2007
A case of de novo partial tetrasomy of distal 6p and review of the literatureRyan Stohler, Ellen Kucharski, Emily Farrow, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?Jessica Roberts, Wilfredo Torres-Martinez, Emily Farrow, et al.
Geriatrics (Basel, Switzerland)|October 21, 2020
Daily Medical Liaison is Associated with Reduced Length of Stay and Complications in Selected Patients Admitted to a Regional Vascular Surgery ServiceEmma Mitchell, Roisin Coary, Paul White, et al.
Endocrinology|February 4, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise ApproachJill D Jacobson, Laurel K Willig, John Gatti, et al.
American Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.
American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.
Clinical and Experimental Dermatology|August 30, 2024
Early detection of anal squamous cell carcinoma with the use of high-resolution anoscopyMuhammad Hyder Junejo, Oluwatobiloba Ifeoluwa Oyebanji, Baihan Wang, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
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