Jillian Nicholl

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 17 publications

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.

Journal: Genetics in medicine open

Published: December 05, 2024

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Journal: Molecular genetics & genomic medicine

Published: July 15, 2022

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.

Journal: Case reports in genetics

Published: May 19, 2022

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Journal: Ophthalmology

Published: July 16, 2019

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 16, 2019

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2018

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Journal: American journal of human genetics

Published: December 21, 2016

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Journal: Molecular psychiatry

Published: February 08, 2016

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Journal: Human molecular genetics

Published: August 10, 2015

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: December 11, 2014

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Journal: American journal of medical genetics. Part A

Published: August 20, 2014

Phenotypes of AKT3 deletion: a case report and literature review.

Phenotypes of AKT3 deletion: a case report and literature review.

Journal: American journal of medical genetics. Part A

Published: March 15, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026