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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Genes & Diseases
2025-03 | Journal article
Contributors: Ronen Schneider; Shirlee Shril; Florian Buerger; Konstantin Deutsch; Kirollos Yousef; Camille N. Frank; Ana C. Onuchic-Whitford; Thomas M. Kitzler; Youying Mao; Verena Klämbt et al.
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Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies

American Journal of Physiology-Renal Physiology
2024-05-01 | Journal article
Contributors: Florian Buerger; Lea M. Merz; Ken Saida; Seyoung Yu; Daanya Salmanullah; Katharina Lemberg; Nils D. Mertens; Bshara Mansour; Caroline M. Kolvenbach; Kirollos Yousef et al.
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Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

Nephron
2023 | Journal article
Contributors: Luca M Schierbaum; Sophia Schneider; Florian Buerger; Abdul Aziz Halawi; Steve Seltzsam; Chunyan Wang; Bixia Zheng; Chen-Han Wilfried Wu; Rufeng Dai; Dervla M. Connaughton et al.
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Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation

Cell Reports
2022-08 | Journal article
Contributors: Yuzuru Sasamoto; Catherine A.A. Lee; Brian J. Wilson; Florian Buerger; Gabrielle Martin; Ananda Mishra; Shoko Kiritoshi; Johnathan Tran; Gabriel Gonzalez; Friedhelm Hildebrandt et al.
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Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports
2021-02 | Journal article
Contributors: Youying Mao; Ronen Schneider; Peter F.M. van der Ven; Marvin Assent; Keerthika Lohanadan; Verena Klämbt; Florian Buerger; Thomas M. Kitzler; Konstantin Deutsch; Makiko Nakayama et al.
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Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances
2021-01 | Journal article
Contributors: Amar J. Majmundar; Florian Buerger; Thomas A. Forbes; Verena Klämbt; Ronen Schneider; Konstantin Deutsch; Thomas M. Kitzler; Sara E. Howden; Michelle Scurr; Ker Sin Tan et al.
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