Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
de Queiroz Júnior AF et al.
American Journal of Medical Genetics. Part A, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Neonatal diabetes caused by disrupted pancreatic and β-cell development.
De Franco E
Diabetic Medicine : a Journal of the British Diabetic Association, 2021
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
Kruszka P et al.
American Journal of Human Genetics, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Cospain A et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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