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Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.
Communications Medicine|January 21, 2025
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt diseaseDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Anesthesia and Analgesia|August 15, 2017
Chronic Pain and Associated Factors in India and Nepal: A Pilot Study of the Vanderbilt Global Pain SurveyJenna L Walters, Kelly Baxter, Hannah Chapman, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
Frontiers in Oncology|August 25, 2023
Redlining-associated methylation in breast tumors: the impact of contemporary structural racism on the tumor epigenomeJasmine M Miller-Kleinhenz, Leah Moubadder, Kirsten M Beyer, et al.
Biorxiv : the Preprint Server for Biology|May 4, 2026
Transcriptomic subtypes in high-grade serous ovarian cancer are driven by tumor cellular compositionStephanie Tanis, Manoel Lixandrao, Adriana Ivich, et al.
Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Homologous recombination deficiency in ovarian high-grade serous carcinoma by self-reported raceKatherine A Lawson-Michod, Courtney E Johnson, Mollie E Barnard, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Molecular Vision|May 23, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceRamon A C van Huet, Laurence H M Pierrache, Magda A Meester-Smoor, et al.
Hearing Research|March 30, 2013
Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3E van Beelen, M Schraders, P L M Huygen, et al.
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