Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Residual Complexes Containing SMARCA2 (BRM) Underlie the Oncogenic Drive of SMARCA4 (BRG1) Mutation

(2014) B. G. Wilson et al.   MOLECULAR AND CELLULAR BIOLOGY

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

(2013) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DICER1 hotspot mutations in non-epithelial gonadal tumours

(2013) L Witkowski et al.   BRITISH JOURNAL OF CANCER

A Synthetic Lethality-Based Strategy to Treat Cancers Harboring a Genetic Deficiency in the Chromatin Remodeling Factor BRG1

(2013) T. Oike et al.   CANCER RESEARCH

Familial rhabdoid tumour 'avant la lettre'-from pathology review to exome sequencing and back again

(2013) Leora Witkowski et al.   JOURNAL OF PATHOLOGY

Extracranial rhabdoid tumours: what we have learned so far and future directions

(2013) Bernadette Brennan et al.   LANCET ONCOLOGY

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics

(2013) Lisa F Gamwell et al.   Orphanet Journal of Rare Diseases

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

(2013) A. Hunter Shain et al.   PLoS One

Ovarian small cell carcinoma of hypercalcemic type – evidence of germline origin and smarca4 gene inactivation. a pilot study

(2013) Jolanta Kupryjańczyk et al.   POLISH JOURNAL OF PATHOLOGY

The Genetic Landscape of Clinical Resistance to RAF Inhibition in Metastatic Melanoma

(2013) E. M. Van Allen et al.   Cancer Discovery

Lung cancer with loss of BRG1/BRM, shows epithelial mesenchymal transition phenotype and distinct histologic and genetic features

(2012) Daisuke Matsubara et al.   CANCER SCIENCE

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers

(2012) Ryan S. Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Small cell carcinoma of the ovary of hypercalcemic type: a case report

(2012) J. Matt McDonald et al.   JOURNAL OF PEDIATRIC SURGERY

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

(2012) Jeremy Schwartzentruber et al.   NATURE

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

(2012)   NATURE GENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Deep Clonal Profiling of Formalin Fixed Paraffin Embedded Clinical Samples

(2012) Tara Holley et al.   PLoS One

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression

(2011) Martin Hasselblatt et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Small cell carcinoma of the ovary of the hypercalcaemic type: an analysis of clinical and prognostic aspects of a rare disease on the basis of cases published in the literature

(2011) Rebecca Estel et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Integrated genomic analyses of ovarian carcinoma

(2011) D. Bell et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

(2010) Reinhard Schneppenheim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Differential cyclic AMP responses to calcitonin among human ovarian carcinoma cell lines: A calcitonin-responsive line derived from a rare tumor type

(2010) Katherine S. Upchurch et al.   JOURNAL OF BONE AND MINERAL RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

Current FIGO staging for cancer of the vagina, fallopian tube, ovary, and gestational trophoblastic neoplasia

(2009)   INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS

Familial small cell carcinoma of the ovary

(2009) Anibal R. Martinez-Borges et al.   PEDIATRIC BLOOD & CANCER