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The Journal of Applied Laboratory Medicine|June 9, 2026
AI'm Here to Help: Enhancing Laboratory Genetic Counseling with Artificial IntelligenceZöe Powis, Khalida Liaquat, Matthew L TschirgiJournal of Genetic Counseling|January 17, 2022
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment eraBethany Zettler, Elicia Estrella, Khalida Liaquat, et al.Journal of Genetic Counseling|May 27, 2023
Abandoning the word CaucasianMatthew L Tschirgi, Khalida Liaquat, Meenakshi Mahey Kumar, et al.American Journal of Medical Genetics. Part A|October 23, 2024
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published CasesZöe Powis, Jonathon Lutz, Khalida Liaquat, et al.Molecular Genetics & Genomic Medicine|January 24, 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathyChristina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, et al.Neuromuscular Disorders : NMD|October 1, 2015
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHDJessica Vasale, Fatih Boyar, Michael Jocson, et al.Advances in Genomics and Genetics|April 30, 2019
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohortsNatasha Zr Steele, Alison R Bright, Suzee E Lee, et al.Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.Human Mutation|October 16, 2015
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian DisordersIzabela Karbassi, Glenn A Maston, Angela Love, et al.Pageof 1