Tom Cushing

Medical Genetics | Pediatrics

2211 Lomas Blvd Ne
Albuquerque, NM 87106

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 5 publications

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Journal: Journal of medical genetics

Published: October 21, 2021

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Journal: American journal of human genetics

Published: December 09, 2019

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Journal: Nature genetics

Published: April 04, 2016

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Journal: American journal of medical genetics. Part A

Published: April 26, 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Journal: American journal of human genetics

Published: September 14, 2012

Showing 1-5 of 5

Last Updated: 09/26/2026