Jillian P. Casey

Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 20 publications

Catalogue of inherited disorders found among the Irish Traveller population.

Catalogue of inherited disorders found among the Irish Traveller population.

Journal: Journal of medical genetics
Published: August 10, 2017

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

Journal: Journal of neurology
Published: March 07, 2017

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Journal: Clinical dysmorphology
Published: June 14, 2016

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

Journal: Prenatal diagnosis
Published: May 31, 2016

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Journal: Journal of medical genetics
Published: March 18, 2016

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Journal: Human molecular genetics
Published: December 28, 2015

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

Journal: American journal of medical genetics. Part A
Published: October 27, 2015

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Journal: Scientific reports
Published: June 29, 2015

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Journal: JIMD reports
Published: March 25, 2015

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Journal: Journal of inherited metabolic disease
Published: January 21, 2015

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Journal: BMC medical genetics
Published: December 11, 2014

Vocal cord paralysis in association with 9q34 duplication.

Vocal cord paralysis in association with 9q34 duplication.

Journal: Clinical dysmorphology
Published: May 27, 2014
Showing 1-12 of 20

Last Updated: 09/26/2026