Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
Raghuvanshi R et al.
Genetic Testing and Molecular Biomarkers, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10489.xls › SNVIndel
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.
Andres EM et al.
Children (basel, Switzerland), 2023
37508616 (PubMed )
Supplement: children-10-01119-s001.zip › children-2428542-supplementary.pdf
Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
Elsayed O et al.
Molecular Genetics & Genomic Medicine, 2022
Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.
Liang Y et al.
Plos Genetics, 2022
36095024 (PubMed )
Supplement: pgen.1010373.s019.xlsx › S4_Table
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F et al.
Nature Communications, 2018
30166553 (PubMed )
Supplement: 41467_2018_5886_MOESM1_ESM.pdf
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