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List of works by Ann-Marie Patch

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing.

scientific article published in July 2014

APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers

scientific article published on 06 May 2020

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

scientific article published on January 2014

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

scientific article published on 31 August 2013

EIF1AX and NRAS Mutations Co-occur and Cooperate in Low-Grade Serous Ovarian Carcinomas

scientific article published on 23 June 2017

Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer

scientific article published in Nature

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

scientific article published on 9 May 2014

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees ⬇️

scientific article

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

scientific article

Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing.

scientific article

Homologous Recombination DNA Repair Pathway Disruption and Retinoblastoma Protein Loss Are Associated with Exceptional Survival in High-Grade Serous Ovarian Cancer.

scientific article

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

scientific article published on 03 October 2018

Hypermutation In Pancreatic Cancer

scientific article

Identification of the CIMP-like subtype and aberrant methylation of members of the chromosomal segregation and spindle assembly pathways in esophageal adenocarcinoma

scientific article published on 10 February 2016

Injection site vaccinology of a recombinant vaccinia-based vector reveals diverse innate immune signatures

scientific article published on 13 January 2021

Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance

scientific article published on 14 July 2015

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.

scientific article published on August 2017

Lost in translation: returning germline genetic results in genome-scale cancer research

scientific article

Malignant cells from pleural fluids in malignant mesothelioma patients reveal novel mutations.

scientific article published on 9 March 2018

Mutation load in melanoma is affected by MC1R genotype

scientific article published on 26 December 2016

Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

scientific article published on 7 December 2010

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

scientific article

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

scientific article

Somatic point mutation calling in low cellularity tumors.

scientific article

Unexpected UVR and non-UVR mutation burden in some acral and cutaneous melanomas.

scientific article published on 9 January 2017

Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma

scientific article

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility

scientific article published on 21 November 2018

Whole-genome characterization of chemoresistant ovarian cancer

scientific article published in May 2015

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

scientific article published on 18 July 2019

Whole-genome landscape of pancreatic neuroendocrine tumours.

scientific article published on 15 February 2017

Whole-genome landscapes of major melanoma subtypes.

scientific article published on 3 May 2017

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

scientific article published on 16 October 2020

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