Justin O Szot

发表

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Shannon Rego, S. Dunwoodie, P. Shannon, 2021, Human mutation.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

James N. Hughes, D. Sillence, M. Brown, 2017, The New England journal of medicine.

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

D. Humphreys, E. Giannoulatou, S. Dunwoodie, 2018, Circulation. Genomic and precision medicine.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Jacob T. Munro, D. Humphreys, E. Giannoulatou, 2018, Genetics in Medicine.

Notch4 reveals a novel mechanism regulating Notch signal transduction.

S. Dunwoodie, G. Chapman, J. Major, 2014, Biochimica et biophysica acta.

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

D. Humphreys, S. Dunwoodie, R. Harvey, 2017, International journal of cardiology.

Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants.

S. Grieve, E. Giannoulatou, S. Dunwoodie, 2019, Human molecular genetics.

Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

K. Choy, S. Dunwoodie, V. Siu, 2019, American journal of human genetics.

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

E. Giannoulatou, S. Dunwoodie, N. Pachter, 2019, Human molecular genetics.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Jacob T. Munro, D. Humphreys, E. Giannoulatou, 2018, Genetics in Medicine.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

C. Poulton, S. Lakhani, G. Chapman, 2024, The Journal of clinical investigation.

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease Authors

E. Giannoulatou, S. Dunwoodie, A. Slavotinek, 2019 .