M. Primiano

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

W. Chung, P. Appelbaum, J. Wynn, 2020, Patient education and counseling.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling

Emily P Solem, M. Primiano, Marshall P McQuillen, 2020, Journal of genetic counseling.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

R. Pfundt, J. Howe, H. Brunner, 2023, Human molecular genetics.