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Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Mao Y, Schneider R, van der Ven PFM, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler TM, Deutsch K, Nakayama M, Majmundar AJ, Mann N, Hermle T, Onuchic-Whitford AC, Zhou W, Margam NN, Duncan R, Marquez J, Khokha M, Fathy HM, Kari JA, El Desoky S, Eid LA, Awad HS, Al-Saffar M, Mane S, Lifton RP, Fürst DO, Shril S, Hildebrandt F. Mao Y, et al. Kidney Int Rep. 2020 Nov 10;6(2):472-483. doi: 10.1016/j.ekir.2020.10.040. eCollection 2021 Feb. Kidney Int Rep. 2020. PMID: 33615072 Free PMC article.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Seltzsam S, et al. Among authors: mao y. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906515 Free PMC article.
9,832 results