Associated Papers
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.
Akkus N et al.
Molecular Genetics & Genomic Medicine, 2026
Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.
Lindzon J et al.
Brain Communications, 2025
40066109 (PubMed )
Supplement: fcaf077_supplementary_data.zip › Supplementary_Table1_patientmutations.xlsx › Published_CMT4B3_Patients
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Mammel AE et al.
Human Molecular Genetics, 2022
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
Tan L et al.
Molecular Genetics & Genomic Medicine, 2021
33369188 (PubMed )
Supplement: MGG3-9-e1582-s001.xlsx › Sheet2
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.
Flusser H et al.
Clinical Genetics, 2018
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
Romani M et al.
Neurology. Genetics, 2016
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
25496518 (PubMed )
Supplement: 40246_2014_20_MOESM2_ESM.xlsx › Sheet1
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