T. M. Mosher

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

R. Wilson, D. Koboldt, A. Morgan, 2019, Human mutation.

Cerebral organoids containing an AUTS2 missense variant model microcephaly

R. Wilson, D. Koboldt, K. McBride, 2022, medRxiv.

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

R. Wilson, D. Koboldt, S. McGrath, 2021, Human mutation.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

R. Wilson, D. Koboldt, K. McBride, 2019, Cold Spring Harbor molecular case studies.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

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

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

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Daniel C. Koboldt, Peter White, Benjamin J. Kelly, 2018, Cold Spring Harbor molecular case studies.

Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

R. Pyatt, T. Prior, P. Snyder, 2013, American journal of medical genetics. Part A.