Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.
Neal SJ et al.
Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2024
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Estrella E et al.
Advanced Genetics (hoboken, N.j.), 2023
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC07
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
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins BE et al.
American Journal of Human Genetics, 2007
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