Associated Papers
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Chesneau B et al.
Clinical Genetics, 2026
Clinicopathologic and Genomic Characterization of SMARCA4-Deficient Carcinoma of the Gallbladder.
Jia Q et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
van Engelen N et al.
Pediatric Blood & Cancer, 2025
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Coffin-Siris syndrome and cancer susceptibility.
Borja NA et al.
Genetics in Medicine Open, 2023
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
Frühwald MC et al.
Familial Cancer, 2021
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
Pastorczak A et al.
Familial Cancer, 2021
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 2020
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.
Lin B et al.
Journal of Pediatric Hematology/oncology, 2020
Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.
Connor YD et al.
Gynecologic Oncology, 2020
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.
Lu B et al.
Journal of Cancer, 2019
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.
Bögershausen N et al.
Frontiers in Molecular Neuroscience, 2018
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
Errichiello E et al.
The Journal of Pathology, 2017
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET et al.
Nature Neuroscience, 2017
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
Le Loarer F et al.
Nature Genetics, 2015
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Mody RJ et al.
Jama, 2015
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
Ramos P et al.
Nature Genetics, 2014
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Ramos P et al.
Rare Diseases (austin, Tex.), 2014