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Year Number of Results
1954 1
1958 1
1961 2
1964 2
1966 1
1968 3
1971 1
1972 1
1974 1
1975 1
1986 2
1988 1
1993 1
2000 1
2002 1
2003 2
2004 1
2005 1
2006 1
2011 2
2015 6
2016 4
2017 1
2018 3
2020 3
2021 4
2022 5
2023 6
2024 3

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58 results

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Page 1
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
The ASNR-MICCAI Brain Tumor Segmentation (BraTS) Challenge 2023: Intracranial Meningioma.
LaBella D, Adewole M, Alonso-Basanta M, Altes T, Anwar SM, Baid U, Bergquist T, Bhalerao R, Chen S, Chung V, Conte GM, Dako F, Eddy J, Ezhov I, Godfrey D, Hilal F, Familiar A, Farahani K, Iglesias JE, Jiang Z, Johanson E, Kazerooni AF, Kent C, Kirkpatrick J, Kofler F, Leemput KV, Li HB, Liu X, Mahtabfar A, McBurney-Lin S, McLean R, Meier Z, Moawad AW, Mongan J, Nedelec P, Pajot M, Piraud M, Rashid A, Reitman Z, Shinohara RT, Velichko Y, Wang C, Warman P, Wiggins W, Aboian M, Albrecht J, Anazodo U, Bakas S, Flanders A, Janas A, Khanna G, Linguraru MG, Menze B, Nada A, Rauschecker AM, Rudie J, Tahon NH, Villanueva-Meyer J, Wiestler B, Calabrese E. LaBella D, et al. Among authors: johanson e. ArXiv [Preprint]. 2023 May 12:arXiv:2305.07642v1. ArXiv. 2023. PMID: 37608937 Free PMC article. Preprint.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: johanson e. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
MILD PARANOIA.
Johanson E. Johanson E. Acta Psychiatr Scand. 1964;39(S180):171-4. Acta Psychiatr Scand. 1964. PMID: 14345192 No abstract available.
A community effort to identify and correct mislabeled samples in proteogenomic studies.
Yoo S, Shi Z, Wen B, Kho S, Pan R, Feng H, Chen H, Carlsson A, Edén P, Ma W, Raymer M, Maier EJ, Tezak Z, Johanson E, Hinton D, Rodriguez H, Zhu J, Boja E, Wang P, Zhang B. Yoo S, et al. Among authors: johanson e. Patterns (N Y). 2021 May 7;2(5):100245. doi: 10.1016/j.patter.2021.100245. eCollection 2021 May 14. Patterns (N Y). 2021. PMID: 34036290 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
58 results