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Page 1
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, Chiga M, Sekine A, Ubara Y, Miller DE, Zalusky MPG, Mandai S, Ando F, Mori Y, Kikuchi H, Susa K; University of Washington Center for Rare Disease Research; Chong JX, Bamshad MJ, Tan YQ, Zhang F, Uchida S, Sohara E. Mori T, et al. Kidney Int Rep. 2024 Sep 24;9(12):3580-3591. doi: 10.1016/j.ekir.2024.09.013. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698362 Free PMC article.
Response to Alex J. Adams and Timothy P. Frost.
Parker J, Johanson E. Parker J, et al. Among authors: johanson e. J Am Pharm Assoc (2003). 2024 Jul-Aug;64(4):102088. doi: 10.1016/j.japh.2024.102088. Epub 2024 Apr 7. J Am Pharm Assoc (2003). 2024. PMID: 38588800 No abstract available.
Synthetic Health Data Can Augment Community Research Efforts to Better Inform the Public During Emerging Pandemics.
Prasanna A, Jing B, Plopper G, Miller KK, Sanjak J, Feng A, Prezek S, Vidyaprakash E, Thovarai V, Maier EJ, Bhattacharya A, Naaman L, Stephens H, Watford S, Boscardin WJ, Johanson E, Lienau A. Prasanna A, et al. Among authors: johanson e. medRxiv [Preprint]. 2023 Dec 13:2023.12.11.23298687. doi: 10.1101/2023.12.11.23298687. medRxiv. 2023. PMID: 38168217 Free PMC article. Preprint.
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.
The Brain Tumor Segmentation (BraTS) Challenge 2023: Brain MR Image Synthesis for Tumor Segmentation (BraSyn).
Li HB, Conte GM, Hu Q, 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]. 2024 Nov 24:arXiv:2305.09011v6. ArXiv. 2024. PMID: 37608932 Free PMC article. Preprint.
The Brain Tumor Segmentation - Metastases (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI.
Moawad AW, Janas A, Baid U, Ramakrishnan D, Saluja R, Ashraf N, Maleki N, Jekel L, Yordanov N, Fehringer P, Gkampenis A, Amiruddin R, Manteghinejad A, Adewole M, Albrecht J, Anazodo U, Aneja S, Anwar SM, Bergquist T, Chiang V, Chung V, Conte GM, Dako F, Eddy J, Ezhov I, Khalili N, Farahani K, Iglesias JE, Jiang Z, Johanson E, Kazerooni AF, Kofler F, Krantchev K, LaBella D, Van Leemput K, Li HB, Linguraru MG, Liu X, Meier Z, Menze BH, Moy H, Osenberg K, Piraud M, Reitman Z, Shinohara RT, Wang C, Wiestler B, Wiggins W, Shafique U, Willms K, Avesta A, Bousabarah K, Chakrabarty S, Gennaro N, Holler W, Kaur M, LaMontagne P, Lin M, Lost J, Marcus DS, Maresca R, Merkaj S, Cassinelli Pedersen G, von Reppert M, Sotiras A, Teytelboym O, Tillmans N, Westerhoff M, Youssef A, Godfrey D, Floyd S, Rauschecker A, Villanueva-Meyer J, Pflüger I, Cho J, Bendszus M, Brugnara G, Cramer J, Perez-Carillo GJG, Johnson DR, Kam A, Kwan BYM, Lai L, Lall NU, Memon F, Krycia M, Patro SN, Petrovic B, So TY, Thompson G, Wu L, Schrickel EB, Bansal A, Barkhof F, Besada C, Chu S, Druzgal J, Dusoi A, Farage L, Feltrin F, Fong A, Fung SH, Gray RI, Ikuta I, Iv M, Postma AA, Mahajan A, Joyner D, Krumpelman C, L… See abstract for full author list ➔ Moawad AW, et al. Among authors: johanson e. ArXiv [Preprint]. 2024 Dec 9:arXiv:2306.00838v3. ArXiv. 2024. PMID: 37396600 Free PMC article. Preprint.
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.
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.
59 results