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

Results by year

Table representation of search results timeline featuring number of search results per year.

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

Text availability

Article attribute

Article type

Publication date

Search Results

58 results

Results by year

Filters applied: . Clear all
Page 1
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.
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.
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.
The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI.
Moawad AW, Janas A, Baid U, Ramakrishnan D, Jekel L, Krantchev K, Moy H, Saluja R, Osenberg K, Wilms K, Kaur M, Avesta A, Pedersen GC, Maleki N, Salimi M, Merkaj S, von Reppert M, Tillmans N, Lost J, Bousabarah K, Holler W, Lin M, Westerhoff M, Maresca R, Link KE, Tahon NH, Marcus D, Sotiras A, LaMontagne P, Chakrabarty S, Teytelboym O, Youssef A, Nada A, Velichko YS, Gennaro N; Connectome Students; Group of Annotators; Cramer J, Johnson DR, Kwan BYM, Petrovic B, Patro SN, Wu L, So T, Thompson G, Kam A, Perez-Carrillo GG, Lall N; Group of Approvers; Albrecht J, Anazodo U, Lingaru MG, Menze BH, Wiestler B, Adewole M, Anwar SM, Labella D, Li HB, Iglesias JE, Farahani K, Eddy J, Bergquist T, Chung V, Shinohara RT, Dako F, Wiggins W, Reitman Z, Wang C, Liu X, Jiang Z, Van Leemput K, Piraud M, Ezhov I, Johanson E, Meier Z, Familiar A, Kazerooni AF, Kofler F, Calabrese E, Aneja S, Chiang V, Ikuta I, Shafique U, Memon F, Conte GM, Bakas S, Rudie J, Aboian M. Moawad AW, et al. Among authors: johanson e. ArXiv [Preprint]. 2023 Jun 1:arXiv:2306.00838v1. ArXiv. 2023. PMID: 37396600 Free PMC article. Preprint.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.
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.
The Brain Tumor Segmentation (BraTS) Challenge 2023: Brain MR Image Synthesis for Tumor Segmentation (BraSyn).
Li HB, Conte GM, Anwar SM, Kofler F, Ezhov I, van Leemput K, Piraud M, Diaz M, Cole B, Calabrese E, Rudie J, Meissen F, Adewole M, Janas A, Kazerooni AF, LaBella D, Moawad AW, Farahani K, Eddy J, Bergquist T, Chung V, Shinohara RT, Dako F, Wiggins W, Reitman Z, Wang C, Liu X, Jiang Z, Familiar A, Johanson E, Meier Z, Davatzikos C, Freymann J, Kirby J, Bilello M, Fathallah-Shaykh HM, Wiest R, Kirschke J, Colen RR, Kotrotsou A, Lamontagne P, Marcus D, Milchenko M, Nazeri A, Weber MA, Mahajan A, Mohan S, Mongan J, Hess C, Cha S, Villanueva-Meyer J, Colak E, Crivellaro P, Jakab A, Albrecht J, Anazodo U, Aboian M, Yu T, Chung V, Bergquist T, Eddy J, Albrecht J, Baid U, Bakas S, Linguraru MG, Menze B, Iglesias JE, Wiestler B. Li HB, et al. Among authors: johanson e. ArXiv [Preprint]. 2023 Jun 28:arXiv:2305.09011v5. ArXiv. 2023. PMID: 37608932 Free PMC article. Preprint.
58 results