Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Functional analysis of MEIS2 splice site variant c.438 + 1G>T in a congenital heart patient.
Xu C et al.
Frontiers in Genetics, 2025
Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report.
Shen F et al.
Frontiers in Pediatrics, 2024
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Barili V et al.
Genes, 2023
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent.
Zhang B et al.
Molecular Cytogenetics, 2021
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil G et al.
Orphanet Journal of Rare Diseases, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Gangfuß A et al.
American Journal of Medical Genetics. Part A, 2021
MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Su JX et al.
American Journal of Medical Genetics. Part A, 2021
Homeobox Genes and Homeodomain Proteins: New Insights into Cardiac Development, Degeneration and Regeneration.
Miksiunas R et al.
Advances in Experimental Medicine and Biology, 2020
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R et al.
European Journal of Human Genetics : Ejhg, 2019
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G et al.
American Journal of Medical Genetics. Part A, 2018
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.
Fujita A et al.
Journal of Human Genetics, 2016
A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.
Takai R et al.
Journal of Human Genetics, 2016
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
Louw JJ et al.
American Journal of Medical Genetics. Part A, 2015