Joseph J. Shen

The role of clinical response to treatment in determining pathogenicity of genomic variants

M. Hegde, M. Huigen, L. Kluijtmans, 2020, Genetics in Medicine.

The role of clinical response to treatment in determining pathogenicity of genomic variants

M. Hegde, M. Huigen, L. Kluijtmans, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Response to Biesecker et al.

M. Hegde, L. Kluijtmans, C. V. van Karnebeek, 2021, Genetics in Medicine.

CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

L. A. Higa, Joseph J. Shen, Timothy A. Foster, 2021, BMC medical genomics.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.