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Year Number of Results
2010 1
2013 4
2014 4
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2016 6
2017 8
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2019 6
2020 3
2021 9
2022 6
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46 results

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Page 1
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: kievit aja. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Haarman AEG, Thiadens AAHJ, van Tienhoven M, Loudon SE, de Klein JEMMA, Brosens E, Polling JR, van der Schoot V, Bouman A, Kievit AJA, Hoefsloot LH, Klaver CCW, Verhoeven VJM. Haarman AEG, et al. Among authors: kievit aja. Hum Mol Genet. 2022 Sep 29;31(19):3290-3298. doi: 10.1093/hmg/ddac113. Hum Mol Genet. 2022. PMID: 35567543 Free PMC article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: kievit aja. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
den Heijer JM, van Hilten JJ, Kievit AJA, Bonifati V, Groeneveld GJ. den Heijer JM, et al. Among authors: kievit aja. Mov Disord Clin Pract. 2020 Oct 27;8(1):33-36. doi: 10.1002/mdc3.13098. eCollection 2021 Jan. Mov Disord Clin Pract. 2020. PMID: 33426156 Free PMC article. No abstract available.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network; Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: kievit aj. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia.
Panman JL, Venkatraghavan V, van der Ende EL, Steketee RME, Jiskoot LC, Poos JM, Dopper EGP, Meeter LHH, Donker Kaat L, Rombouts SARB, Vernooij MW, Kievit AJA, Premi E, Cosseddu M, Bonomi E, Olives J, Rohrer JD, Sánchez-Valle R, Borroni B, Bron EE, Van Swieten JC, Papma JM, Klein S; GENFI consortium investigators. Panman JL, et al. Among authors: kievit aja. J Neurol Neurosurg Psychiatry. 2021 May;92(5):494-501. doi: 10.1136/jnnp-2020-323541. Epub 2021 Jan 15. J Neurol Neurosurg Psychiatry. 2021. PMID: 33452053 Free PMC article.
Mutations in TMEM230 are not a common cause of Parkinson's disease.
Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ; International Parkinsonism Genetics Network; Lu CS, Bonifati V. Quadri M, et al. Among authors: kievit aj. Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. Mov Disord. 2017. PMID: 28090676 No abstract available.
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Mol MO, van Rooij JGJ, Wong TH, Melhem S, Verkerk AJMH, Kievit AJA, van Minkelen R, Rademakers R, Pottier C, Kaat LD, Seelaar H, van Swieten JC, Dopper EGP. Mol MO, et al. Among authors: kievit aja. Neurobiol Aging. 2021 Jan;97:148.e9-148.e16. doi: 10.1016/j.neurobiolaging.2020.07.014. Epub 2020 Jul 30. Neurobiol Aging. 2021. PMID: 32843152 Free article.
46 results