Alexander Ing

Utility and Outcomes of the 2019 ACMG-ClinGen Guidelines for Interpretation of Copy-Number Variants With Borderline Classifications at an Academic Clinical Diagnostic Laboratory.

J. Charrow, P. Rathbun, S. Spencer, 2022, The Journal of molecular diagnostics : JMD.

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

K. Yap, K. Rychlik, E. McNally, 2021, Journal of the American Heart Association.

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

K. Yap, S. Kim, R. Bhat, 2021, Molecular genetics & genomic medicine.

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

Brenda L. Bohnsack, Andrew Drackley, Alexander Ing, 2023, Genes.

Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia

J. Charrow, D. Kirschmann, Sabah Kadri, 2021, Cold Spring Harbor molecular case studies.

Life-threatening arrhythmias with autosomal recessive TECRL variants.

J. Rioux, A. Wilde, L. Al-Gazali, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Genomic Autopsy of Sudden Deaths in Young Individuals.

Lorenzo L. Pesce, Sabah Kadri, K. Yap, 2021, JAMA cardiology.

Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al.

A. Spurdle, S. Tavtigian, K. Yap, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts

Brenda L. Bohnsack, Andrew Drackley, Alexander Ing, 2023, Genes.

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

K. Yap, P. Rathbun, Lenika De Simone, 2023, American journal of medical genetics. Part A.

Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia

K. Yap, P. Rathbun, Andrew Drackley, 2024, American journal of medical genetics. Part A.