Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting From Inherited and de novo SLC26A3 Variants

Authors

Sheridan O’Donnell (ORCID: https://orcid.org/0009-0000-2170-7265)
Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
Javad Jamshidi (ORCID: https://orcid.org/0000-0002-6607-418X)
Franki Hart
Himanshu Goel (ORCID: https://orcid.org/0000-0001-6448-6618)
Georgina Armstrong (ORCID: https://orcid.org/0009-0009-2055-6026)
Ying Zhu (ORCID: https://orcid.org/0000-0003-0104-3881)
Michael Buckley

Institutions

John Hunter Hospital (AU)
UNSW Sydney (AU)
Hunter Genetics (AU)
Northern Sydney Local Health District (AU)
Sydney Children's Hospital (AU)
University of Newcastle Australia (AU)
Neuroscience Research Australia (AU)

Publication Details

Journal: Prenatal Diagnosis
Published: 2026-11-03
DOI: https://doi.org/10.1002/pd.70288
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting From Inherited and de novo SLC26A3 Variants

Sheridan O’Donnell, Tony Roscioli, Javad Jamshidi, Franki Hart et al.

Nov 3, 2026

Prenatal Diagnosis

Genomics and Rare Diseases

article

Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting From Inherited and de novo SLC26A3 Variants

Sheridan O’Donnell, Tony Roscioli, Javad Jamshidi, Franki Hart, Himanshu Goel, Georgina Armstrong, Ying Zhu, Michael Buckley

November 3, 2026article en

Abstract

No abstract available for this paper.

Prenatal Diagnosis

John Hunter Hospital (AU), UNSW Sydney (AU), Hunter Genetics (AU), Northern Sydney Local Health District (AU), Sydney Children's Hospital (AU), University of Newcastle Australia (AU), Neuroscience Research Australia (AU)

Openalex Percentile: Top 16%

Genomics and Rare Diseases

DOI Open Access PDF OpenAlex

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