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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. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: goldstein db. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium; Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Farhan SMK, et al. Among authors: goldstein db. Nat Neurosci. 2019 Dec;22(12):1966-1974. doi: 10.1038/s41593-019-0530-0. Epub 2019 Nov 25. Nat Neurosci. 2019. PMID: 31768050 Free PMC article.
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium; Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Farhan SMK, et al. Among authors: goldstein db. Nat Neurosci. 2020 Feb;23(2):295. doi: 10.1038/s41593-019-0570-5. Nat Neurosci. 2020. PMID: 31857710
Rare genetic causes of complex kidney and urological diseases.
Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: goldstein db. Nat Rev Nephrol. 2020 Nov;16(11):641-656. doi: 10.1038/s41581-020-0325-2. Epub 2020 Aug 17. Nat Rev Nephrol. 2020. PMID: 32807983 Free PMC article. Review.
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.
Povysil G, Butler-Laporte G, Shang N, Weng C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh R, Bourgey M, Aziz N, Jones S, Knoppers B, Scherer S, Strug L, Lepage P, Ragoussis J, Bourque G, Alghamdi J, Aljawini N, Albes N, Al-Afghani HM, Alghamdi B, Almutair M, Mahmoud ES, Safie LA, Bardisy HE, Al Harthi FS, Alshareef A, Suliman BA, Alqahtani S, AlMalik A, Alrashed MM, Massadeh S, Mooser V, Lathrop M, Arabi Y, Mbarek H, Saad C, Al-Muftah W, Badji R, Al Thani A, Ismail SI, Gharavi AG, Abedalthagafi MS, Richards JB, Goldstein DB, Kiryluk K. Povysil G, et al. Among authors: goldstein db. medRxiv [Preprint]. 2020 Dec 21:2020.12.18.20248226. doi: 10.1101/2020.12.18.20248226. medRxiv. 2020. PMID: 33398295 Free PMC article. Updated. Preprint.
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.
Halvorsen M, Samuels J, Wang Y, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Knowles JA, Zoghbi AW, Pottinger TD, Grados MA, Riddle MA, Bienvenu OJ, Nestadt PS, Krasnow J, Goes FS, Maher B, Nestadt G, Goldstein DB. Halvorsen M, et al. Among authors: goldstein db. Nat Neurosci. 2021 Aug;24(8):1071-1076. doi: 10.1038/s41593-021-00876-8. Epub 2021 Jun 28. Nat Neurosci. 2021. PMID: 34183866
Risk Variants in the Exomes of Children With Critical Illness.
Motelow JE, Lippa NC, Hostyk J, Feldman E, Nelligan M, Ren Z, Alkelai A, Milner JD, Gharavi AG, Tang Y, Goldstein DB, Kernie SG. Motelow JE, et al. Among authors: goldstein db. JAMA Netw Open. 2022 Oct 3;5(10):e2239122. doi: 10.1001/jamanetworkopen.2022.39122. JAMA Netw Open. 2022. PMID: 36306130 Free PMC article.
Transcript expression-aware annotation improves rare variant interpretation.
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Daly MJ, MacArthur DG. Cummings BB, et al. Nature. 2020 May;581(7809):452-458. doi: 10.1038/s41586-020-2329-2. Epub 2020 May 27. Nature. 2020. PMID: 32461655 Free PMC article.
545 results