Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome

por Shillington, Amelle, Pedapati, Ernest, Hopkin, Robert, Suhrie, Kristen
Publicado 2020

Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant

por Shen, Jack, Shillington, Amelle, Espay, Alberto J., Hill, Emily J.
Publicado 2022

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disor...

por Shillington, Amelle, Lamy, Martine, Dominick, Kelli C., Sorter, Michael, Erickson, Craig A., Hopkin, Robert
Publicado 2022

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transp...

por Shillington, Amelle, Zea Vera, Alonso, Perry, Tanya, Hopkin, Robert, Thomas, Cameron, Cooper, David, Suhrie, Kristen
Publicado 2021

Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate

por Chai, Yue, Lee, Sharon Shui Ying, Shillington, Amelle, Du, Xiaoli, Fok, Catalina Ka Man, Yeung, Kam Chun, Siu, Gavin Ka Yu, Yuan, Shiyang, Zheng, Zhongyu, Tsang, Hayley Wing Sum, Gu, Shen, Chen, Yu, Ye, Tao, Ip, Jacque Pak Kan
Publicado 2023