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Journal of Human Genetics|September 16, 2025
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variantsDibyendu Dutta, Jennifer Black, Daniela Macaya, et al.
Academic Forensic Pathology|December 22, 2022
Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death InvestigationRebecca Latimer, Heather MacLeod, Lisa Dellefave-Castillo, et al.
Genetic Testing|February 26, 2008
Medical errors related to inappropriate genetic testing in liver transplant patientsDouglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2008
The incidence of duplicate genetic testingDouglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, et al.
Genetic Testing and Molecular Biomarkers|May 2, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratoryKrystien V Lieve, Leah Williams, Amy Daly, et al.
European Journal of Medical Genetics|April 17, 2026
Phenotypic Discordance in Monozygotic Twins with a CDH2 VariantLaura Hansman, Jose Galan-Cadena, Victoria Bartlett, et al.
Circulation. Genomic and Precision Medicine|December 21, 2018
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown SignificanceCarlos G Vanoye, Reshma R Desai, Katarina L Fabre, et al.
Molecular Genetics and Metabolism|May 9, 2009
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) methodWalter C Hubbard, Ann B Moser, Anita C Liu, et al.
Human Mutation|July 15, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
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