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545 results

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Page 1
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Among authors: goldstein db. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.
Perucca P, Stanley K, Harris N, McIntosh AM, Asadi-Pooya AA, Mikati MA, Andrade DM, Dugan P, Depondt C, Choi H, Heinzen EL, Cavalleri GL, Buono RJ, Devinsky O, Sperling MR, Berkovic SF, Delanty N, Goldstein DB, O'Brien TJ; EPIGEN Consortium. Perucca P, et al. Among authors: goldstein db. Ann Neurol. 2022 Dec 19. doi: 10.1002/ana.26581. Online ahead of print. Ann Neurol. 2022. PMID: 36534060
Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels.
Reddy HP, Yakubovich D, Keren-Raifman T, Tabak G, Tsemakhovich VA, Pedersen MH, Shalomov B, Colombo S, Goldstein DB, Javitch JA, Bera AK, Dascal N. Reddy HP, et al. Among authors: goldstein db. iScience. 2021 Aug 21;24(9):103018. doi: 10.1016/j.isci.2021.103018. eCollection 2021 Sep 24. iScience. 2021. PMID: 34522861 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.
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. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF, Bogyo K, Kapoor S, Shea PR, Groopman EE, Thomas-Wilson A, Cocchi E, Milo Rasouly H, Zheng B, Sun S, Zhang J, Martinez M, Vittorio JM, Dove LM, Marasa M, Wang TC, Verna EC, Worman HJ, Gharavi AG, Goldstein DB, Wattacheril J. Kong XF, et al. Among authors: goldstein db. Sci Rep. 2023 Dec 6;13(1):21540. doi: 10.1038/s41598-023-42202-1. Sci Rep. 2023. PMID: 38057357 Free PMC article.
545 results