Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
New Insights Into TRMT10A Syndrome: Case Report and Literature Review.
Ceraolo G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.
Samhani C et al.
Diabetes & Metabolism, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
Stern E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S et al.
Human Mutation, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R et al.
Frontiers in Genetics, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.
Cosentino C et al.
Nucleic Acids Research, 2018
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
Yew TW et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.
Zung A et al.
American Journal of Medical Genetics. Part A, 2015
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
Narayanan M et al.
F1000research, 2015
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Igoillo-Esteve M et al.
Plos Genetics, 2013