Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A et al.
Human Genetics, 2024
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.
Wang Y et al.
Frontiers in Pediatrics, 2024
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M et al.
American Journal of Medical Genetics. Part A, 2023
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Qian Y et al.
Journal of Autism and Developmental Disorders, 2022
Correlations of switch/sucrose nonfermentable complex mutations with clinical outcomes in advanced non-small cell lung cancer.
Chang G et al.
Thoracic Cancer, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A et al.
American Journal of Medical Genetics. Part A, 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y et al.
American Journal of Medical Genetics. Part A, 2022
High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.
Munabi NCO et al.
American Journal of Medical Genetics. Part A, 2022
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Shen F et al.
Frontiers in Oncology, 2022
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD et al.
Human Genomics, 2021
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 2020
Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.
Ishida H et al.
Biomedical Reports, 2020
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L et al.
Jama Pediatrics, 2017