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List of works by Jonathan A Bernstein

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

article

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

scientific article published on 01 May 2020

Candidate variants in TUB are associated with familial tremor

scientific article published on 21 September 2020

Change in Prevalence of Orofacial Clefts in California between 1987 and 2010

scientific article published on 31 July 2018

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

scientific article published on 28 March 2019

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

scientific article published on 01 July 2021

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

scientific article published on 28 September 2020

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome

scientific article published on 14 May 2020

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