Jacqueline Eason

Hucknall Road
Nottingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Journal: Journal of medical genetics

Published: July 02, 2025

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Journal: NPJ genomic medicine

Published: November 12, 2024

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Journal: JCI insight

Published: September 10, 2024

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Journal: European journal of human genetics : EJHG

Published: June 11, 2024

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Journal: Frontiers in genetics

Published: March 15, 2024

Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Journal: Journal of medical genetics

Published: February 21, 2024

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Journal: Nature communications

Published: October 31, 2022

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Journal: American journal of human genetics

Published: September 19, 2022

Primary lacrimal gland plexiform neurofibroma: a case report and review of the literature.

Primary lacrimal gland plexiform neurofibroma: a case report and review of the literature.

Journal: Orbit (Amsterdam, Netherlands)

Published: March 21, 2022

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Journal: American journal of medical genetics. Part A

Published: March 01, 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

Showing 1-12 of 32

Last Updated: 09/26/2026