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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.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank CN, Onuchic-Whitford AC, Kitzler TM, Mao Y, Klämbt V, Zahoor MY, Lemberg K, Majmundar AJ, Mansour B, Saida K, Seltzsam S, Kolvenbach CM, Merz LM, Mertens ND, Hermle T, Mann N, Pantel D, Halawi AA, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov IZ, Sagiv I, Eid LA, Awad HSH, Al Saffar M, Soliman NA, Nabhan MM, Kari JA, El Desoky S, Shalaby MA, Ooda S, Fathy HM, Mane S, Lifton RP, Somers MJG, Hildebrandt F. Schneider R, et al. Among authors: mane s. Genes Dis. 2024 Mar 28;12(2):101280. doi: 10.1016/j.gendis.2024.101280. eCollection 2025 Mar. Genes Dis. 2024. PMID: 39584075 Free PMC article. No abstract available.
Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.
Chang-Wolf JM, Kinzy TG, Driessen SJ, Cruz LA, Iyengar SK, Peachey NS, Aung T, Khor CC, Williams SE, Ramsay M, Olawoye O, Ashaye A, Klaver CCW, Hauser MA, Thiadens AAHJ, Cooke Bailey JN, Bonnemaijer PWM; Genetics in Glaucoma Patients of African Descent (GIGA) Study GroupGenetics of Glaucoma in People of African Descent (GGLAD) Study GroupMillion Veteran Program (MVP). Chang-Wolf JM, et al. JAMA Ophthalmol. 2024 Nov 14:e244784. doi: 10.1001/jamaophthalmol.2024.4784. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39541127
A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.
Chavan S, Chalipat S, Verma S, Kumar G, Mane S. Chavan S, et al. Among authors: mane s. Cureus. 2024 Sep 16;16(9):e69495. doi: 10.7759/cureus.69495. eCollection 2024 Sep. Cureus. 2024. PMID: 39416591 Free PMC article.
539 results