Deborah Osio

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: August 19, 2022

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Journal: European journal of medical genetics

Published: February 11, 2022

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Journal: American journal of medical genetics. Part A

Published: June 19, 2021

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

Journal: Journal of medical genetics

Published: October 17, 2020

Genotype-phenotype correlation at codon 1740 of SETD2.

Genotype-phenotype correlation at codon 1740 of SETD2.

Journal: American journal of medical genetics. Part A

Published: October 24, 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

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Journal: Brain : a journal of neurology

Published: November 22, 2018

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Journal: American journal of medical genetics. Part A

Published: May 03, 2017

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Journal: Nature genetics

Published: March 17, 2015

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).

Journal: Clinical dysmorphology

Published: February 26, 2015

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Last Updated: 09/26/2026