Associated Papers
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR et al.
American Journal of Human Genetics, 2025
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
María Del Rocío PB et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S et al.
Hgg Advances, 2024
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR et al.
American Journal of Human Genetics, 2024
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 diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Lee CG et al.
Annals of Laboratory Medicine, 2021
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.
Ikeda S et al.
Molecular Cancer Therapeutics, 2018
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
Gellert P et al.
Nature Communications, 2016
27827358 (PubMed )
Supplement: ncomms13294-s4.xlsx › Phase_II
Select a paper to view details