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Gavin Chapman

Showing results (31-40 of 41) with videos related to

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Circulation. Genomic and Precision Medicine|March 21, 2018
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome DataJustin O Szot, Hartmut Cuny, Gillian M Blue, et al.
American Journal of Medical Genetics. Part A|May 6, 2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformationsNoura Al Dhaheri, Nan Wu, Sen Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
Human Molecular Genetics|December 10, 2019
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variantsGavin Chapman, Julie L M Moreau, Eddie I P, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Nature Communications|February 5, 2025
Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressureSophie Shen, Tessa Werner, Samuel W Lukowski, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Circulation. Genomic and Precision Medicine|March 21, 2018
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome DataJustin O Szot, Hartmut Cuny, Gillian M Blue, et al.
American Journal of Medical Genetics. Part A|May 6, 2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformationsNoura Al Dhaheri, Nan Wu, Sen Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
Human Molecular Genetics|December 10, 2019
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variantsGavin Chapman, Julie L M Moreau, Eddie I P, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Nature Communications|February 5, 2025
Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressureSophie Shen, Tessa Werner, Samuel W Lukowski, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
Pageof 5