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

Year Number of Results
2008 1
2011 4
2012 6
2013 9
2014 10
2015 7
2016 4
2017 9
2018 9
2019 6
2020 5
2021 6
2022 10
2023 3
2024 6

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91 results

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Page 1
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz Martinez J, de Lucas EM, Berjon RS, Infante Ceberio J, Indelicato E, Boesch S, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Chen S, et al. medRxiv [Preprint]. 2024 Feb 18:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
Fazal S, Danzi MC, Xu I, Kobren SN, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F, Wuchty S, Tekin M, Züchner S, Aguiar-Pulido V. Fazal S, et al. Genome Biol. 2024 Jan 31;25(1):39. doi: 10.1186/s13059-024-03171-4. Genome Biol. 2024. PMID: 38297326 Free PMC article.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S. Dohrn MF, et al. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):201-205. doi: 10.1136/jnnp-2023-332130. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041684 Free PMC article.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. Rebelo AP, et al. Genet Med. 2022 Dec;24(12):2487-2500. doi: 10.1016/j.gim.2022.08.019. Epub 2022 Sep 22. Genet Med. 2022. PMID: 36136088 Free article.
91 results