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Year Number of Results
1959 1
1966 2
1967 1
1971 1
1996 2
1998 1
1999 8
2000 4
2001 10
2002 2
2003 4
2004 4
2005 2
2006 13
2007 3
2008 6
2009 5
2010 13
2011 12
2012 8
2013 14
2014 16
2015 21
2016 13
2017 14
2018 13
2019 13
2020 21
2021 15
2022 16
2023 16

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249 results

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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: buchert r. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: buchert r. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Effects of spermidine supplementation on cognition and biomarkers in older adults with subjective cognitive decline (SmartAge)-study protocol for a randomized controlled trial.
Wirth M, Schwarz C, Benson G, Horn N, Buchert R, Lange C, Köbe T, Hetzer S, Maglione M, Michael E, Märschenz S, Mai K, Kopp U, Schmitz D, Grittner U, Sigrist SJ, Stekovic S, Madeo F, Flöel A. Wirth M, et al. Among authors: buchert r. Alzheimers Res Ther. 2019 May 1;11(1):36. doi: 10.1186/s13195-019-0484-1. Alzheimers Res Ther. 2019. PMID: 31039826 Free PMC article. Clinical Trial.
Molecular Imaging of Abdominal Aortic Aneurysms.
Brangsch J, Reimann C, Collettini F, Buchert R, Botnar RM, Makowski MR. Brangsch J, et al. Among authors: buchert r. Trends Mol Med. 2017 Feb;23(2):150-164. doi: 10.1016/j.molmed.2016.12.002. Epub 2017 Jan 16. Trends Mol Med. 2017. PMID: 28110838 Review.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: buchert r. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Bilal M, et al. Among authors: buchert r. Eur J Hum Genet. 2023 Sep 8. doi: 10.1038/s41431-023-01450-5. Online ahead of print. Eur J Hum Genet. 2023. PMID: 37684519
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RH, Liaqat K, Ahmad W. Bilal M, et al. Among authors: buchert r. Mol Syndromol. 2023 Jun;14(3):201-207. doi: 10.1159/000528651. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323198 Free article.
Data-driven FDG-PET subtypes of Alzheimer's disease-related neurodegeneration.
Levin F, Ferreira D, Lange C, Dyrba M, Westman E, Buchert R, Teipel SJ, Grothe MJ; Alzheimer’s Disease Neuroimaging Initiative. Levin F, et al. Among authors: buchert r. Alzheimers Res Ther. 2021 Feb 19;13(1):49. doi: 10.1186/s13195-021-00785-9. Alzheimers Res Ther. 2021. PMID: 33608059 Free PMC article.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M. Rapp CK, et al. Among authors: buchert r. Clin Genet. 2021 Oct;100(4):453-461. doi: 10.1111/cge.14016. Epub 2021 Jul 14. Clin Genet. 2021. PMID: 34165204 Review.
249 results