Associated Papers
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
WWOX somatic ablation in skeletal muscles alters glucose metabolism.
Abu-Remaileh M et al.
Molecular Metabolism, 2019
30755385 (PubMed )
Supplement: mmc1.pdf
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 2018
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Disciglio V et al.
Chinese Journal of Cancer, 2016
27267075 (PubMed )
Supplement: 40880_2016_115_MOESM5_ESM.xlsx › Table_S5
Epigenetic and genetic alterations affect the WWOX gene in head and neck squamous cell carcinoma.
Ekizoglu S et al.
Plos One, 2015
Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.
Olalde I et al.
Nature, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s005.pdf
Genetic alterations of the WWOX gene in breast cancer.
Ekizoglu S et al.
Medical Oncology (northwood, London, England), 2012
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Dastani Z et al.
European Journal of Human Genetics : Ejhg, 2010
Identification of homozygous deletions at chromosome 16q23 in aflatoxin B1 exposed hepatocellular carcinoma.
Yakicier MC et al.
Oncogene, 2001
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