Joseph Shen

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 593 citations

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Cas Simons, Lachlan D. Rash, Joanna Crawford et al. · Nature Genetics · 2014 · 156 citations

Channelopathies, Hyperpolarization (Biology), Neurophysiology +8

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen et al. · European Journal of Human Genetics · 2009 · 145 citations · Full text

Genome Instability, Genetics, Pathology +6

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

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 129 citations · Full text

Epileptic Encephalopathy, Signal Transduction, Developmental Biology +10