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Year Number of Results
2010 1
2013 4
2014 4
2015 1
2016 6
2017 8
2018 4
2019 6
2020 3
2021 9
2022 6
2023 7
2024 2

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Page 1
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
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.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: kievit aja. Transl Psychiatry. 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. Transl Psychiatry. 2022. PMID: 36182950 Free PMC article.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: kievit aja. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
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.
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.
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.
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
50 results