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AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|June 19, 2026
Use of Family Relationships in Commercial Claims Data to Characterize Clinical Events of Patients with <i>BRCA1/2</i> Cascade TestingKevin Gorman, Xuyang Li, Carolyn Applegate, et al.
American Journal of Medical Genetics. Part A|July 4, 2015
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallotKarin Weiss, Carolyn Applegate, Tao Wang, et al.
Case Reports in Genetics|December 15, 2015
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeMolly B Sheridan, Elizabeth Wohler, Denise A S Batista, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian diseaseKatie Fiallos, Carolyn Applegate, Debra Jh Mathews, et al.
Pediatric Blood & Cancer|June 28, 2025
NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic MalignancyNadav I Weinstock, Carolyn Applegate, Lei Peng, et al.
Scientific Reports|April 14, 2025
Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institutionAnita Madison, Carolyn Applegate, Victoria Stinnett, et al.
Developmental Medicine and Child Neurology|April 2, 2014
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumAdeline Ngoh, Amy McTague, Ingrid M Wentzensen, et al.
Journal of Child Neurology|April 1, 2014
High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case reportDavid S Wolf, W Christopher Golden, Julie Hoover-Fong, et al.
Ophthalmic Genetics|March 17, 2026
Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophyDorothy T Wang, Bani Antonio-Aguirre, Annabelle Pan, et al.
Annals of Neurology|July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunctionJessica Duis, Shannon Dean, Carolyn Applegate, et al.
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