Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma

(2020) Lisa Mirabello et al.   JAMA Oncology

Small-molecule targeting of brachyury transcription factor addiction in chordoma

(2019) Tanaz Sharifnia et al.   NATURE MEDICINE

Germline Variants Impact Somatic Events during Tumorigenesis

(2019) Johnny R. Ramroop et al.   TRENDS IN GENETICS

ClinVar: improvements to accessing data

(2019) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

The driver landscape of sporadic chordoma

(2017) Patrick S. Tarpey et al.   Nature Communications

Brachyury-YAP Regulatory Axis Drives Stemness and Growth in Cancer

(2017) Sagar R. Shah et al.   Cell Reports

Building a global consensus approach to chordoma: a position paper from the medical and patient community

(2015) Silvia Stacchiotti et al.   LANCET ONCOLOGY

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

(2014) Michael J. Kelley et al.   HUMAN GENETICS

Outcomes and patterns of care in adult skull base chordomas from the Surveillance, Epidemiology, and End Results (SEER) database

(2014) Pamela S. Jones et al.   JOURNAL OF CLINICAL NEUROSCIENCE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Prognostic value of MIB-1, p53, epidermal growth factor receptor, and INI1 in childhood chordomas

(2013) R. Yadav et al.   NEURO-ONCOLOGY

Durable tumor regression in genetically altered malignant rhabdoid tumors by inhibition of methyltransferase EZH2

(2013) S. K. Knutson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A common single-nucleotide variant in T is strongly associated with chordoma

(2012) Nischalan Pillay et al.   NATURE GENETICS

INI1-Deficient Tumors

(2011) Travis J. Hollmann et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population

(2011) M. L. McMaster et al.   JOURNAL OF MEDICAL GENETICS

Generation of chordoma cell line JHC7 and the identification of Brachyury as a novel molecular target

(2011) Wesley Hsu et al.   JOURNAL OF NEUROSURGERY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study

(2010) Nadège Presneau et al.   JOURNAL OF PATHOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

T (brachyury) gene duplication confers major susceptibility to familial chordoma

(2009) Xiaohong R Yang et al.   NATURE GENETICS

Identification of nucleus pulposus precursor cells and notochordal remnants in the mouse: Implications for disk degeneration and chordoma formation

(2008) Kyung-Suk Choi et al.   DEVELOPMENTAL DYNAMICS