Kim Brugger

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Journal: BMC nephrology

Published: January 05, 2017

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Journal: American journal of medical genetics. Part A

Published: December 09, 2016

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Journal: Neurogenetics

Published: October 14, 2016

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Journal: The Journal of clinical endocrinology and metabolism

Published: August 16, 2016

gEVAL - a web-based browser for evaluating genome assemblies.

gEVAL - a web-based browser for evaluating genome assemblies.

Journal: Bioinformatics (Oxford, England)

Published: January 27, 2016

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Journal: American journal of medical genetics. Part A

Published: October 15, 2015

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

Journal: European journal of immunology

Published: March 11, 2015

Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing.

Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: February 12, 2015

KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.

KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.

Journal: Leukemia

Published: June 10, 2014

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

Journal: BMC nephrology

Published: April 25, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026