Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2024
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosisJenna Pucel, Lauren C Briere, Chloe Reuter, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu Jangam, Lauren C Briere, Kristy Jay, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Journal of Genetic Counseling|March 3, 2018
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases NetworkChristina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assaysXueyang Pan, Albert N Alvarez, Mengqi Ma, et al.
Elife|December 11, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assaysXueyang Pan, Albert N Alvarez, Mengqi Ma, et al.
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
American Journal of Human Genetics|December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient populationJessica I Gold, Yehuda Elkaim, Nina B Gold, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Pageof 3