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How variant discovery redefines genetic prevalence: the case of cystine stone disease.

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Title: How variant discovery redefines genetic prevalence: the case of cystine stone disease.
Authors: Wu CW; Department of Urology, Department of Genetics, Hugh Kaul Precision Medicine Institute Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. cwwu@uabmc.edu.; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA. cwwu@uabmc.edu., Chang J; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Lovrenert K; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Bodner D; Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schumacher FR; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul; Vol. 34 (7), pp. 956-963. Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Wu+CW%22">Wu CW</searchLink>; Department of Urology, Department of Genetics, Hugh Kaul Precision Medicine Institute Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. cwwu@uabmc.edu.; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA. cwwu@uabmc.edu.<br /><searchLink fieldCode="AU" term="%22Chang+J%22">Chang J</searchLink>; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Lovrenert+K%22">Lovrenert K</searchLink>; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Bodner+D%22">Bodner D</searchLink>; Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Schumacher+FR%22">Schumacher FR</searchLink>; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jul; Vol. 34 (7), pp. 956-963. <i>Date of Electronic Publication: </i>2026 Apr 09.
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        Value: 10.1038/s41431-026-02085-y
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              Text: 2026 Jul
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