H. Mei

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Identification of rare de novo epigenetic variations in congenital disorders

L. Vissers, J. Buxbaum, A. Sharp, 2018, bioRxiv.

Application of Next-Generation Sequencing in Noonan Spectrum Disorders

L. Wong, P. Magoulas, Jinglan Zhang, 2017 .

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

R. Desnick, L. Edelmann, D. Weaver, 2015, Journal of Human Genetics.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Matthew S. Lebo, W. Chung, M. Wheeler, 2020, Human mutation.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.