Associated Papers
Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.
Zhong H et al.
Frontiers in Microbiology, 2026
41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
The genetics of autism spectrum disorder in an East African familial cohort.
Tuncay IO et al.
Cell Genomics, 2023
37492102 (PubMed )
Supplement: mmc7.xlsx › Table_S6
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN et al.
Embo Molecular Medicine, 2021
33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
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
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
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
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C
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
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