Jin Yun Helen Chen

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

E. Eichler, N. Brunetti‐Pierri, Yiping Shen, 2022, Science advances.

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

M. Abbott, K. Swoboda, B. Darras, 2021, International journal of neonatal screening.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

J. Schmahmann, Soma Das, S. Facchini, 2022, Neurology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.