Associated Papers
Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.
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Heliyon, 2025
39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s2.xlsx › Sheet1
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Tumor mutation burden and recurrent tumors in hereditary lung cancer.
Hsu YC et al.
Cancer Medicine, 2019
30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
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