Lesley H. Rawlings

Frome Road
Adelaide, SA 5000, Australia

Last Updated: 09/26/2026

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Found 22 publications

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

Journal: Calcified tissue international

Published: March 21, 2025

Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes.

Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes.

Journal: The Journal of allergy and clinical immunology

Published: August 06, 2024

Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis.

Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis.

Journal: Hemoglobin

Published: January 10, 2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Journal: Blood advances

Published: December 04, 2023

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Journal: The Australian & New Zealand journal of obstetrics & gynaecology

Published: November 12, 2023

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Journal: Acta diabetologica

Published: July 10, 2023

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Journal: American journal of human genetics

Published: June 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

Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.

Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: October 21, 2021

RNF43 pathogenic Germline variant in a family with colorectal cancer.

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Journal: Clinical genetics

Published: July 09, 2021

GATA2 deficiency syndrome: A decade of discovery.

GATA2 deficiency syndrome: A decade of discovery.

Journal: Human mutation

Published: February 24, 2021

New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.

New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.

Journal: The Journal of pediatrics

Published: October 23, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026