Lista de obras -

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

artículo científico publicado en 2012

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

artículo científico publicado en 2019

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

artículo científico publicado en 2018

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

artículo científico publicado en 2015

Germline TERT promoter mutations are rare in familial melanoma ⬇️

artículo científico publicado en 2015

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

scientific article published on 06 July 2019

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

artículo científico publicado en 2017

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

artículo científico publicado en 2019

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

artículo científico publicado en 2015

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

artículo científico publicado en 2020

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

artículo científico publicado en 2014

POLE mutations in families predisposed to cutaneous melanoma

artículo científico publicado en 2015

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

artículo científico publicado en 2016

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

scientific article published on 11 October 2018

The genetic evolution of metastatic uveal melanoma

scientific article published on 28 June 2019

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

artículo científico publicado en 2020

Lista de obras de

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Germline TERT promoter mutations are rare in familial melanoma ⬇️

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

POLE mutations in families predisposed to cutaneous melanoma

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

The genetic evolution of metastatic uveal melanoma

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours