Sue Povey

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Journal: Human mutation

Published: August 09, 2018

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Journal: Journal of community genetics

Published: March 21, 2018

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Journal: Journal of the American Society of Nephrology : JASN

Published: November 13, 2017

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Journal: Journal of community genetics

Published: September 26, 2017

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Journal: Human mutation

Published: August 17, 2015

Persistent severe polyuria after renal transplant.

Persistent severe polyuria after renal transplant.

Journal: Clinical kidney journal

Published: June 18, 2015

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 17, 2014

Molecular genetics research in sub-Saharan Africa: how can the international community help?

Molecular genetics research in sub-Saharan Africa: how can the international community help?

Journal: The HUGO journal

Published: March 27, 2014

The 2014International Workshop on Alport Syndrome.

The 2014International Workshop on Alport Syndrome.

Journal: Kidney international

Published: February 21, 2014

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Journal: Human mutation

Published: June 20, 2013

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Journal: Human mutation

Published: May 09, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026