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Page 1
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: pollak mr. medRxiv [Preprint]. 2023 Oct 5:2023.10.05.23296595. doi: 10.1101/2023.10.05.23296595. medRxiv. 2023. Update in: Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008 PMID: 37873196 Free PMC article. Updated. Preprint.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: pollak mr. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148 Free PMC article.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty M, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: pollak mr. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293554. doi: 10.1101/2023.08.02.23293554. medRxiv. 2023. Update in: Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9 PMID: 37577628 Free PMC article. Updated. Preprint.
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Wooden B, Beenken A, Martinelli E, Saida K, Knob AL, Ke J, Pisani I, Jin G, Lane B, Mitrotti A, Colby E, Lim TY, Guglielmi F, Osborne AJ, Ahram DF, Wang C, Armand F, Zanoni F, Bomback AS, Delsante M, Appel GB, Ferrari MRA, Martino J, Sahdeo S, Breckenridge D, Petrovski S, Paul DS, Hall G, Magistroni R, Murtas C, Feriozzi S, Rampino T, Esposito P, Helmuth ME, Sampson MG, Kretzler M, Kiryluk K, Shril S, Gesualdo L, Maggiore U, Fiaccadori E, Gbadegesin R, Santoriello D, D'Agati VD, Saleem MA, Gharavi AG, Hildebrandt F, Pollak MR, Goldstein DB, Sanna-Cherchi S. Wooden B, et al. Among authors: pollak mr. J Am Soc Nephrol. 2024 Oct 1. doi: 10.1681/ASN.0000000501. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39352759 No abstract available.
In Search of the Mechanism of APOL1 Kidney Disease.
Friedman DJ, Pollak MR. Friedman DJ, et al. Among authors: pollak mr. J Am Soc Nephrol. 2024 Jun 1;35(6):815-817. doi: 10.1681/ASN.0000000000000368. Epub 2024 Apr 10. J Am Soc Nephrol. 2024. PMID: 39248627 No abstract available.
Human Heredity and Health (H3) in Africa Kidney Disease Research Network: A Focus on Methods in Sub-Saharan Africa.
Osafo C, Raji YR, Burke D, Tayo BO, Tiffin N, Moxey-Mims MM, Rasooly RS, Kimmel PL, Ojo A, Adu D, Parekh RS; H3Africa Kidney Disease Research Network Investigators as members of The H3Africa Consortium. Osafo C, et al. Clin J Am Soc Nephrol. 2015 Dec 7;10(12):2279-87. doi: 10.2215/CJN.11951214. Epub 2015 Jul 2. Clin J Am Soc Nephrol. 2015. PMID: 26138261 Free PMC article.
APOL1 Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans.
Gbadegesin RA, Ulasi I, Ajayi S, Raji Y, Olanrewaju T, Osafo C, Ademola AD, Asinobi A, Winkler CA, Burke D, Arogundade F, Ekem I, Plange-Rhule J, Mamven M, Matekole M, Amodu O, Cooper R, Antwi S, Adeyemo AA, Ilori TO, Adabayeri V, Nyarko A, Ghansah A, Amira T, Solarin A, Awobusuyi O, Kimmel PL, Brosius FC, Makusidi M, Odenigbo U, Kretzler M, Hodgin JB, Pollak MR, Boima V, Freedman BI, Palmer ND, Collins B, Phadnis M, Smith J, Agwai CI, Okoye O, Abdu A, Wilson J, Williams W, Salako BL, Parekh RS, Tayo B, Adu D, Ojo A; H3Africa Kidney Disease Research Network. Gbadegesin RA, et al. Among authors: pollak mr. N Engl J Med. 2025 Jan 16;392(3):228-238. doi: 10.1056/NEJMoa2404211. Epub 2024 Oct 26. N Engl J Med. 2025. PMID: 39465900 Free PMC article.
INF2 mutations cause kidney disease through a gain-of-function mechanism.
Subramanian B, Williams S, Karp S, Hennino MF, Jacas S, Lee M, Riella CV, Alper SL, Higgs HN, Pollak MR. Subramanian B, et al. Among authors: pollak mr. Sci Adv. 2024 Nov 15;10(46):eadr1017. doi: 10.1126/sciadv.adr1017. Epub 2024 Nov 13. Sci Adv. 2024. PMID: 39536114 Free PMC article.
183 results