Associated Papers
TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.
Johnson WT et al.
Blood Advances, 2023
37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
Genetics of crystallins: cataract and beyond.
Graw J
Experimental Eye Research, 2009
Mouse models to study inner ear development and hereditary hearing loss.
Friedman LM et al.
The International Journal of Developmental Biology, 2007
UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man.
Rohozinski J et al.
Biology of Reproduction, 2006
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
Hagstrom SA et al.
American Journal of Medical Genetics. Part A, 2005
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