Brian J Shayota

Publication Activity (10 Years)

Years Active: 2019-2020
Publications (10 Years): 4

Top Topics

Prefrontal Cortex

Intellectual Disability

Muscular Dystrophy

Positron Emission Tomography

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Brian J Shayota, Chaofan Zhang, Roman J Shypailo, Juliana Forte Mazzeu, Cláudia M B Carvalho, Vernon Reid Sutton
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. American journal of medical genetics. Part A 182 (11) (2020)
Brian J Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W Boyer, Rui Xiao, Yaping Yang, Sarah H Elsea, Fernando Scaglia
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. American journal of medical genetics. Part A 179 (5) (2019)
Nishitha R Pillai, Delia Yubero, Brian J Shayota, Alfonso Oyarzábal, Rajarshi Ghosh, Qin Sun, Mahshid S Azamian, Cesar Arjona, Núria Brandi, Francesc Palau, Seema R Lalani, Rafael Artuch, Angeles García-Cazorla, Daryl A Scott
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. American journal of medical genetics. Part A 179 (12) (2019)
Brian J Shayota, Nhon T Le, Nasim Bekheirnia, Jill A Rosenfeld, Amy C Goldstein, Michael Moritz, Dennis W Bartholomew, Matthew T Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J Lamb, Fernando Scaglia, Michael C Braun, Mir Reza Bekheirnia
Characterization of the renal phenotype in RMND1-related mitochondrial disease. Molecular genetics & genomic medicine 7 (12) (2019)