Katrina M. Wood

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Journal: Kidney international

Published: February 10, 2026

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.

Journal: Journal of cell science

Published: May 10, 2025

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Journal: Journal of rare diseases (Berlin, Germany)

Published: March 31, 2025

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Journal: Clinical science (London, England : 1979)

Published: January 22, 2025

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

Journal: Brain : a journal of neurology

Published: June 19, 2024

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Journal: Journal of rare diseases (Berlin, Germany)

Published: November 16, 2023

Extranodal marginal zone lymphoma as the presenting feature of paediatric Sjögren syndrome.

Extranodal marginal zone lymphoma as the presenting feature of paediatric Sjögren syndrome.

Journal: Pediatric blood & cancer

Published: May 05, 2023

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Journal: Annals of human genetics

Published: January 30, 2023

Paraneoplastic cast nephropathy associated with malignant prolactinoma: A case report and literature review.

Paraneoplastic cast nephropathy associated with malignant prolactinoma: A case report and literature review.

Journal: Clinical nephrology

Published: May 10, 2022

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: January 12, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Journal: American journal of human genetics

Published: December 23, 2021

Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma.

Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma.

Journal: Leukemia

Published: March 02, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026