Associated Papers
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.
Biedziak B et al.
Journal of Clinical Medicine, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016
27182965 (PubMed )
Supplement: NIHMS780506-supplement-19.pdf
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Aglan M et al.
American Journal of Medical Genetics. Part A, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain
A new mutation in the gene ROR2 causes brachydactyly type B1.
Huang D et al.
Gene, 2014
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
Afzal AR et al.
Human Mutation, 2003
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M et al.
Nature Genetics, 2000
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