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Page 1
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: salmanullah d. 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.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: salmanullah d. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193 Free PMC article.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Majmundar AJ, et al. Among authors: salmanullah d. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan. Sci Adv. 2021. PMID: 33523862 Free PMC article.
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: salmanullah d. 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.
Correction to: Phenotypic quantification of Nphs1‑deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: salmanullah d. J Nephrol. 2024 Jul;37(6):1723. doi: 10.1007/s40620-024-02060-0. J Nephrol. 2024. PMID: 39115675 No abstract available.
Phenotypic quantification of Nphs1-deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: salmanullah d. J Nephrol. 2024 Jul 14. doi: 10.1007/s40620-024-01987-8. Online ahead of print. J Nephrol. 2024. PMID: 39003671
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Lemberg K, Mertens ND, Yousef K, Schneider R, Merz LM, Mansour B, Salmanullah D, Kolvenbach CM, Saida K, Yu S, Hölzel S, Steinsapir A, Goncalves KA, Nicolas Frank C, Franken GAC, Shril S, Buerger F, Hildebrandt F. Lemberg K, et al. Among authors: salmanullah d. Sci Rep. 2024 Jul 10;14(1):15916. doi: 10.1038/s41598-024-64883-y. Sci Rep. 2024. PMID: 38987283 Free PMC article.
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, Sharma V, Rubin A, Ball D, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Sun L, Guerrero-Castillo S; Nephrotic Syndrome Study Network (NEPTUNE); Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby M, Kari J, Fawcett JP, Hildebrandt F, Majmundar AJ. Buerger F, et al. Among authors: salmanullah d. medRxiv [Preprint]. 2024 Mar 21:2024.03.17.24303374. doi: 10.1101/2024.03.17.24303374. medRxiv. 2024. PMID: 38562757 Free PMC article. Preprint.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F. Buerger F, et al. Among authors: salmanullah d. Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482553
Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney.
Schierbaum LM, Schneider S, Buerger F, Halawi AA, Seltzsam S, Wang C, Zheng B, Wu CW, Dai R, Connaughton DM, Salmanullah D, Nakayama M, Mann N, Shril S, Hildebrandt F. Schierbaum LM, et al. Among authors: salmanullah d. Nephron. 2023;147(11):685-692. doi: 10.1159/000531770. Epub 2023 Jul 27. Nephron. 2023. PMID: 37499630 Free PMC article.