Bryndis Yngvadottir

Cambridge, ENG CB20QQ, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 18, 2025

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Journal: Genes

Published: August 06, 2025

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Journal: Thorax

Published: April 10, 2025

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Journal: International journal of cancer

Published: November 20, 2024

Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.

Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.

Journal: European journal of human genetics : EJHG

Published: February 07, 2024

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Journal: Human molecular genetics

Published: February 15, 2022

Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.

Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.

Journal: Human molecular genetics

Published: February 10, 2022

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Journal: Brain communications

Published: September 29, 2020

Multi-layered population structure in Island Southeast Asians.

Multi-layered population structure in Island Southeast Asians.

Journal: European journal of human genetics : EJHG

Published: November 28, 2015

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.

Journal: Science (New York, N.Y.)

Published: November 30, 2014

Genome-wide analysis of cold adaptation in indigenous Siberian populations.

Genome-wide analysis of cold adaptation in indigenous Siberian populations.

Journal: PloS one

Published: December 11, 2013

A genome-wide survey of genetic variation in gorillas using reduced representation sequencing.

A genome-wide survey of genetic variation in gorillas using reduced representation sequencing.

Journal: PloS one

Published: December 18, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026