Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

545 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
High-impact rare genetic variants in severe schizophrenia.
Zoghbi AW, Dhindsa RS, Goldberg TE, Mehralizade A, Motelow JE, Wang X, Alkelai A, Harms MB, Lieberman JA, Markx S, Goldstein DB. Zoghbi AW, et al. Among authors: goldstein db. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2112560118. doi: 10.1073/pnas.2112560118. Proc Natl Acad Sci U S A. 2021. PMID: 34903660 Free PMC article.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Oz-Levi D, et al. Among authors: goldstein db. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176824 Free PMC article.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: goldstein db, goldstein j. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium; Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB. Cirulli ET, et al. Among authors: goldstein db. Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19. Science. 2015. PMID: 25700176 Free PMC article.
Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load.
McLaren PJ, Coulonges C, Bartha I, Lenz TL, Deutsch AJ, Bashirova A, Buchbinder S, Carrington MN, Cossarizza A, Dalmau J, De Luca A, Goedert JJ, Gurdasani D, Haas DW, Herbeck JT, Johnson EO, Kirk GD, Lambotte O, Luo M, Mallal S, van Manen D, Martinez-Picado J, Meyer L, Miro JM, Mullins JI, Obel N, Poli G, Sandhu MS, Schuitemaker H, Shea PR, Theodorou I, Walker BD, Weintrob AC, Winkler CA, Wolinsky SM, Raychaudhuri S, Goldstein DB, Telenti A, de Bakker PI, Zagury JF, Fellay J. McLaren PJ, et al. Among authors: goldstein db. Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):14658-63. doi: 10.1073/pnas.1514867112. Epub 2015 Nov 9. Proc Natl Acad Sci U S A. 2015. PMID: 26553974 Free PMC article.
Schizophrenia: From genetics to physiology at last.
Dhindsa RS, Goldstein DB. Dhindsa RS, et al. Among authors: goldstein db. Nature. 2016 Feb 11;530(7589):162-3. doi: 10.1038/nature16874. Epub 2016 Jan 27. Nature. 2016. PMID: 26814972 No abstract available.
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.
Dhindsa RS, Bradrick SS, Yao X, Heinzen EL, Petrovski S, Krueger BJ, Johnson MR, Frankel WN, Petrou S, Boumil RM, Goldstein DB. Dhindsa RS, et al. Among authors: goldstein db. Neurol Genet. 2015 Apr 17;1(1):e4. doi: 10.1212/01.NXG.0000464295.65736.da. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066543 Free PMC article.
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Petrovski S, et al. Among authors: goldstein db. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148561 Free PMC article.
545 results