Tina G. Barbaro-Dieber

Medical Genetics | Pediatrics

750 8th Ave Ste 200
Fort Worth, TX 76104

Last Updated: 09/26/2026

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Found 6 publications

Primrose syndrome: Characterization of the phenotype in 42 patients.

Primrose syndrome: Characterization of the phenotype in 42 patients.

Journal: Clinical genetics

Published: January 26, 2020

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2019

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Journal: American journal of human genetics

Published: December 07, 2018

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Journal: Clinical genetics

Published: July 26, 2017

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Journal: Cold Spring Harbor molecular case studies

Published: May 02, 2017

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Journal: American journal of human genetics

Published: August 14, 2014

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Last Updated: 09/26/2026