Peer C. Arts

Adelaide, SA 5000, Australia

Last Updated: 09/26/2026

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Found 46 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine
Published: June 15, 2026

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Journal: Human genomics
Published: September 10, 2025

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Journal: Blood
Published: March 19, 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

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

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Journal: Frontiers in oncology
Published: March 09, 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

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2023

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Journal: Nature medicine
Published: December 15, 2022

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: November 25, 2022

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Journal: Genome biology
Published: March 30, 2022

Human variation in population-wide gene expression data predicts gene perturbation phenotype.

Human variation in population-wide gene expression data predicts gene perturbation phenotype.

Journal: iScience
Published: March 02, 2022
Showing 1-12 of 46

Last Updated: 09/26/2026