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List of works by Ivo Buchhalter

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

article

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

scientific article

A comprehensive multicenter comparison of whole genome sequencing pipelines using a uniform tumor-normal sample pair

Active medulloblastoma enhancers reveal subgroup-specific cellular origins

scientific article published on 27 January 2016

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

scientific article

Author Correction: The landscape of genomic alterations across childhood cancers

scientific article published in Nature

Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation.

scientific article published on 12 February 2018

EML4-ALK fusion variant V3 is a high-risk feature conferring accelerated metastatic spread, early treatment failure and worse overall survival in ALK+ NSCLC.

scientific article

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

scientific article

Framework For Quality Assessment Of Whole Genome, Cancer Sequences

Framework for quality assessment of whole genome cancer sequences

scientific article published on 07 October 2020

Genetic profiling of melanoma in routine diagnostics: assay performance and molecular characteristics in a consecutive series of 274 cases

scientific article published on 20 October 2018

Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.

scientific article published in June 2017

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

scientific article published on 01 April 2020

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

article

Identification of immunotherapeutic targets by genomic profiling of rectal NET metastases.

scientific article published on 22 July 2016

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

MBCL-44. THE MOLECULAR AND CLINICAL LANDSCAPE OF INFANT MEDULLOBLASTOMA (iMB): RESULTS AND MOLECULAR ANALYSIS FROM A PROSPECTIVE, MULTICENTER PHASE II TRIAL (SJYC07)

Measurement of tumor mutational burden (TMB) in routine molecular diagnostics: in silico and real-life analysis of three larger gene panels

scientific article published on 04 February 2019

Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature

scientific article published on 4 May 2017

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

scientific article

Outcomes by Clinical and Molecular Features in Children With Medulloblastoma Treated With Risk-Adapted Therapy: Results of an International Phase III Trial (SJMB03)

scientific article published on 06 January 2021

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial

scientific article published on 16 May 2018

Size matters: Dissecting key parameters for panel-based tumor mutational burden analysis

scientific article published on 04 December 2018

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

scientific article

TB-17A COMPREHENSIVE PAN-CANCER ANALYSIS OF CHILDHOOD MALIGNANCIES.

scientific article published on 30 May 2016

Targeted molecular profiling reveals genetic heterogeneity of poromas and porocarcinomas

scientific article published on 18 December 2017

The landscape of genomic alterations across childhood cancers

scientific article published on 28 February 2018

The molecular landscape of ETMR at diagnosis and relapse

scientific article published on 04 December 2019

The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing

scientific article published on 5 September 2014

The whole-genome landscape of medulloblastoma subtypes

scientific article published in July 2017

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