Associated Papers
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models.
Deng N et al.
Breast Cancer Research : Bcr, 2022
36153537 (PubMed )
Supplement: 13058_2022_1540_MOESM2_ESM.xlsx › SuppTableS2
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama R et al.
Human Genome Variation, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.
Chung JH et al.
Human Mutation, 2015
Genome bioinformatic analysis of nonsynonymous SNPs.
Burke DF et al.
Bmc Bioinformatics, 2007
Select a paper to view details