Lei Wang

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Yaping Yang, F. Xia, M. Leduc, 2021, Molecular genetics & genomic medicine.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.