Associated Papers
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH et al.
Ear, Nose, & Throat Journal, 2025
Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study.
Samarkhanova D et al.
Genes, 2025
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.
Kałużna M et al.
Endocrine Connections, 2025
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10493.xls › SNVIndel
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
Ganesamoorthy D et al.
Bmc Cancer, 2022
35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1249_P0
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.
Arias-Pérez RD et al.
Bmc Medical Genomics, 2021
34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx
Identification of SNPs Associated with Stress Response Traits within High Stress and Low Stress Lines of Japanese Quail.
Shumaker S et al.
Genes, 2021
33809122 (PubMed )
Supplement: genes-12-00405-s001.zip › Supplemental_Material_2_LS_Line_SNPs.xlsx › Sheet1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1
Genomic case report of a low grade bladder tumor metastasis to lung.
Van Every MJ et al.
Bmc Urology, 2018
30176882 (PubMed )
Supplement: 12894_2018_386_MOESM5_ESM.xlsx › Unique_to_upper_tract_tumor
The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.
Diplas BH et al.
Nature Communications, 2018
29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS
Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.
Torres-Ayuso P et al.
Npj Genomic Medicine, 2018
29951225 (PubMed )
Supplement: 41525_2018_55_MOESM2_ESM.xls › Sup_File_1
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
Goetz MP et al.
Journal of the National Cancer Institute, 2017
28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5a
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
28076423 (PubMed )
Supplement: pone.0167581.s005.xlsx › 24_Caucasian_controls
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_2
Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.
Patil V et al.
Oncotarget, 2015
26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations
BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis.
Rustad EH et al.
Blood Cancer Journal, 2015
25794135 (PubMed )
Supplement: bcj201524x1.xls › Sheet1
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield BS et al.
Plos One, 2015
25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Vaginal_SNVs_and_indels
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.
Danda VSR et al.
Journal of Reproduction & Infertility, 0
Select a paper to view details