Associated Papers
Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.
Li D et al.
Npj Precision Oncology, 2025
40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
39794422 (PubMed )
Supplement: 41698_2024_788_MOESM6_ESM.xlsx › patient_10_MASTER_1_indels_
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.
Fu Y et al.
Frontiers in Genetics, 2022
35646055 (PubMed )
Supplement: DataSheet1.xls › All_the_ZEB2_variants
Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.
Wu L et al.
Frontiers in Genetics, 2022
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Frith K et al.
International Journal of Molecular Sciences, 2021
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
Zhang Y et al.
Plos One, 2015
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F et al.
Human Mutation, 2007
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.
Gregory-Evans CY et al.
American Journal of Medical Genetics. Part A, 2004
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.
Cerruti Mainardi P et al.
Journal of Medical Genetics, 2004
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M et al.
American Journal of Medical Genetics. Part A, 2003
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
Cacheux V et al.
Human Molecular Genetics, 2001
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0
Select a paper to view details