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American Journal of Medical Genetics. Part A|December 2, 2024
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic AnemiaMin Gao, Yunjia Chen, Pongtawat Lertwilaiwittaya, et al.
Molecular Cytogenetics|January 2, 2019
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case reportElizabeth R Kerr, Gary M Stuhlmiller, George C Maha, et al.
Frontiers in Genetics|December 31, 2024
Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndromeEmily R Gordon, Stephanie A Felker, Tanner F Coleman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphismYunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
Human Mutation|April 10, 2026
Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female PatientsRasha Faraj, Audrey Farrugia, Anna C E Hurst, et al.
European Journal of Human Genetics : EJHG|October 4, 2022
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validityRobin Z Hayeems, Stephanie Luca, Anna C E Hurst, et al.
The Journal of Molecular Diagnostics : JMD|July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic MedicineAlexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.
American Journal of Medical Genetics. Part A|July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2GeneNatasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
Genome Medicine|November 22, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencingKevin M Bowling, Michelle L Thompson, Melissa A Kelly, et al.
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