Associated Papers
Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.
Rius A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R et al.
Research in Developmental Disabilities, 2021
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.
Lee J et al.
Frontiers in Pharmacology, 2020
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Wang Y et al.
Scientific Reports, 2016
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
Das DK et al.
Gene, 2013
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
Coutinho AM et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007