Michael M. Khayat

发表

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Lon Phan, Todd J. Treangen, Junzhou Wang, 2020, F1000Research.

Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study

Michael M. Khayat, Zachary T Herbert, Wayne E. Clarke, 2020, bioRxiv.

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

David R. Murdock, Michael M. Khayat, J. Lupski, 2022, Human mutation.

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Michael M. Khayat, Wayne E. Clarke, Wenwei Zhang, 2021, Nature Biotechnology.

Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young

David R. Murdock, Michael M. Khayat, R. Gibbs, 2021, Pediatric diabetes.

Hidden biases in germline structural variant detection

Michael M. Khayat, R. Gibbs, M. Mohiyuddin, 2021, Genome biology.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

Exome variant discrepancies due to reference genome differences.

Michael M. Khayat, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases

Michael M. Khayat, J. Rosenfeld, J. Lupski, 2020, Human mutation.

The phenotypic spectrum of Xia‐Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2018, American journal of medical genetics. Part A.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2021, Human mutation.

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.

Eric T. Dawson, Daniel L. Cameron, Zev N. Kronenberg, 2021, F1000Research.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group.

Michael M. Khayat, R. Gibbs, E. Boerwinkle, 2020, Journal of the National Cancer Institute.

Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2019, Cold Spring Harbor molecular case studies.

Hes1 Notch Response Elements and their Roles in RBPJ-K Binding

Michael M. Khayat, 2022 .