SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

(2014) Martin Hasselblatt et al.   ACTA NEUROPATHOLOGICA

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

(2014) Pilar Ramos et al.   NATURE GENETICS

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

(2013) Leora Witkowski et al.   JOURNAL OF PATHOLOGY

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

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

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

(2011) F. Bourdeaut et al.   CLINICAL CANCER RESEARCH

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