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

Year Number of Results
1998 1
1999 4
2000 2
2001 2
2002 3
2003 5
2004 3
2005 1
2006 6
2007 5
2008 6
2009 7
2010 9
2011 18
2012 21
2013 11
2014 10
2015 20
2016 18
2017 17
2018 21
2019 34
2020 22
2021 34
2022 13
2023 7
2024 7

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250 results

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Page 1
Parental Experiences of Genetic Testing.
Groden CM, Vetter CJ, Salih ZNI. Groden CM, et al. Neoreviews. 2024 Mar 1;25(3):e151-e158. doi: 10.1542/neo.25-3-e151. Neoreviews. 2024. PMID: 38425197 Review.
Primary results from the CLEAR study of a novel stent retriever with drop zone technology.
Yoo AJ, Geyik S, Froehler MT, Maurer CJ, Kass-Hout T, Zaidat OO, Nogueira RG, Hanel RA, Pierot L, Spelle L, Lopes D, Hassan A, Širvinskas A, Lin E, Ribo M, Blasco J, Taqi MA, Badruddin A, Siddiqui AH, Miller TR, Hussain SM, Haussen DC, Woodward K, Groden C, Consoli A, Chaudry MI, Ramsey C, Maud A, Bentley J, Bajrami A, Sahnoun M, Fiehler J, Gupta R. Yoo AJ, et al. Among authors: groden c. J Neurointerv Surg. 2023 Dec 2:jnis-2023-020960. doi: 10.1136/jnis-2023-020960. Online ahead of print. J Neurointerv Surg. 2023. PMID: 38050090
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
250 results