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Page 1
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: goldstein db. 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.
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P, Moloney PB, Ji C, Zulfiqar Ali Q, Ramesh A, Goldstein DB, Barboza K, Chandran I, Rong M, Selvarajah A, Qaiser F, Lira VST, Valiante TA, Bazil CW, Choi H, Devinsky O, Depondt C, O'Brien T, Perucca P, Sen A, Dugan P, Sands TT, Delanty N, Andrade DM. Marques P, et al. Among authors: goldstein db. Epilepsy Res. 2024 Oct;206:107425. doi: 10.1016/j.eplepsyres.2024.107425. Epub 2024 Aug 6. Epilepsy Res. 2024. PMID: 39168079
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: goldstein db. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease.
Wattacheril J, Kleinstein SE, Shea PR, Wilson LA, Subramanian GM, Myers RP, Lefkowitch J, Behling C, Xanthakos SA, Goldstein DB; NASH Clinical Research Network. Wattacheril J, et al. Among authors: goldstein db. medRxiv [Preprint]. 2024 Mar 4:2024.03.02.24303632. doi: 10.1101/2024.03.02.24303632. medRxiv. 2024. PMID: 38496563 Free PMC article. Preprint.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: goldstein db. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. medRxiv. 2024. PMID: 38260255 Free PMC article. Preprint.
551 results