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

Loss of SUFU Function in Familial Multiple Meningioma

(2012) Mervi Aavikko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

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

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient

(2011) M. Ángeles Villaronga et al.   BREAST CANCER RESEARCH AND TREATMENT

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

(2011) M. J. Smith et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

(2011) Ignacio Varela et al.   NATURE

Common variation at 10p12.31 near MLLT10 influences meningioma risk

(2011) Sara E Dobbins et al.   NATURE GENETICS

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

(2011) Pepijn van den Munckhof et al.   NEUROGENETICS

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

(2010) I. Christiaans et al.   JOURNAL OF MEDICAL GENETICS

SMARCB1 mutations are not a common cause of multiple meningiomas

(2010) K. D. Hadfield et al.   JOURNAL OF MEDICAL GENETICS

Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway

(2010) Zainab Jagani et al.   NATURE MEDICINE

ARID1AMutations in Endometriosis-Associated Ovarian Carcinomas

(2010) Kimberly C. Wiegand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma

(2010) Siân Jones et al.   SCIENCE

Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas

(2009) Yiping Shen et al.   BMC Medical Genomics

N-terminally truncated BAF57 isoforms contribute to the diversity of SWI/SNF complexes in neurons

(2009) Anna Kazantseva et al.   JOURNAL OF NEUROCHEMISTRY

Coffin-Siris Syndrome and Neurofibromatosis Type 2: A Clinicopathologic Enigma

(2009) Denise R. Wong et al.   LARYNGOSCOPE

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

(2009) Costanza Bacci et al.   NEUROGENETICS

Highly parallel identification of essential genes in cancer cells

(2008) B. Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA