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Page 1
Drug development in the era of precision medicine.
Dugger SA, Platt A, Goldstein DB. Dugger SA, et al. Among authors: goldstein db. Nat Rev Drug Discov. 2018 Mar;17(3):183-196. doi: 10.1038/nrd.2017.226. Epub 2017 Dec 8. Nat Rev Drug Discov. 2018. PMID: 29217837 Free PMC article. Review.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: goldstein db. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB. Gelfman S, et al. Among authors: goldstein db. Genome Res. 2019 May;29(5):809-818. doi: 10.1101/gr.243592.118. Epub 2019 Apr 2. Genome Res. 2019. PMID: 30940688 Free PMC article.
Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Cameron-Christie S, et al. Among authors: goldstein db. J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13. J Am Soc Nephrol. 2019. PMID: 31085678 Free PMC article.
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Zhang D, Povysil G, Kobeissy PH, Li Q, Wang B, Amelotte M, Jaouadi H, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Haefliger C, Platt A, Petrovski S, Garcia JA, Goldstein DB, Garcia CK. Zhang D, et al. Among authors: goldstein db. Am J Respir Crit Care Med. 2022 Jul 1;206(1):56-69. doi: 10.1164/rccm.202110-2439OC. Am J Respir Crit Care Med. 2022. PMID: 35417304 Free PMC article.
Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.
Zhang D, Povysil G, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Platt A, Petrovski S, Goldstein DB, Garcia CK. Zhang D, et al. Among authors: goldstein db. Am J Respir Crit Care Med. 2022 Oct 1;206(7):903-905. doi: 10.1164/rccm.202203-0622LE. Am J Respir Crit Care Med. 2022. PMID: 35666822 Free PMC article. No abstract available.
Precision Medicine in Internal Medicine.
Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK. Kiryluk K, et al. Among authors: goldstein db. Ann Intern Med. 2019 May 7;170(9):635-642. doi: 10.7326/M18-0425. Epub 2019 Apr 30. Ann Intern Med. 2019. PMID: 31035290 Free PMC article.
A framework for the investigation of rare genetic disorders in neuropsychiatry.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. Sanders SJ, et al. Among authors: goldstein db. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Nat Med. 2019. PMID: 31548702 Free PMC article. Review.
545 results