This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

medRxiv · Apr 24, 2024 · PreprintGenetic & Genomic Medicine

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, , Kejian Zhang

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

Genetics in Medicine · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. A. Booth, , Ahmad N. Abou Tayoun

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.

Human Mutation · Oct 11, 2018Peer-reviewedGenetics