Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
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.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
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
Item in Clipboard
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.
Item in Clipboard
Cite
Cite