Sarah L. Smith-King

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 13 publications

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 04, 2024

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Journal: Nature medicine
Published: July 10, 2023

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Journal: Blood advances
Published: February 23, 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

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.

Journal: Blood advances
Published: January 31, 2022

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Journal: Nature medicine
Published: December 29, 2021

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Journal: Haematologica
Published: March 22, 2021

GATA2 deficiency syndrome: A decade of discovery.

GATA2 deficiency syndrome: A decade of discovery.

Journal: Human mutation
Published: February 24, 2021

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

Journal: BMC medical genomics
Published: December 24, 2020

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 12, 2020

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Journal: American journal of medical genetics. Part A
Published: December 20, 2019

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Journal: Journal of medical genetics
Published: November 14, 2019
Showing 1-12 of 13

Last Updated: 09/26/2026