Daniëlle G. M. Bosch

Most-cited papers

1. Novel genetic causes for cerebral visual impairment

   Daniëlle G. M. Bosch, F. Boonstra, N. de Leeuw, R. Pfundt +7 more

   2015European Journal of Human Genetics148 citations Open access

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2. NR2F1 mutations cause optic atrophy with intellectual disability.

   Daniëlle G. M. Bosch, F. Boonstra, C. Gonzaga-Jauregui, Mafei Xu +19 more

   2014American Journal of Human Genetics140 citations Open access

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3. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

   Jung-Hyun Kim, D. Shinde, M. Reijnders, N. Hauser +60 more

   2016American Journal of Human Genetics106 citations Open access

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4. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

   W. Ba, Yan Yan, M. Reijnders, J. Schuurs-Hoeijmakers +14 more

   2016Human Molecular Genetics101 citations Open access

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5. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

   Brieana Fregeau, B. Kim, A. Hernandez-Garcia, Valerie K. Jordan +22 more

   2016American Journal of Human Genetics90 citations Open access

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6. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

   Chun-An Chen, Daniëlle G. M. Bosch, M. Cho, J. Rosenfeld +31 more

   2016Genetics in Medicine79 citations Open access

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7. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

   D. Rots, Eric J Chater-Diehl, A. Dingemans, S. Goodman +84 more

   2021American Journal of Human Genetics64 citations Open access

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8. The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment

   F. Boonstra, Daniëlle G. M. Bosch, C. Geldof, C. Stellingwerf +1 more

   2022Frontiers in Human Neuroscience56 citations Open access

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9. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

   S. Jansen, A. Hoischen, Bradley P. Coe, G. Carvill +37 more

   2017European Journal of Human Genetics54 citations Open access

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10. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

    Daniëlle G. M. Bosch, F. Boonstra, M. Willemsen, F. Cremers +1 more

    2014BMC Ophthalmology52 citations Open access

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11. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

    D. Lugtenberg, M. Reijnders, Michaela Fenckova, E. Bijlsma +26 more

    2016European Journal of Human Genetics47 citations Open access

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12. Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

    M. Rech, J. McCarthy, Chun-An Chen, J. Edmond +10 more

    2020American Journal of Medical Genetics. Part A42 citations Open access

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13. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

    S. Galosi, B. Edani, S. Martinelli, H. Hansíková +46 more

    2021Brain : a journal of neurology38 citations Open access

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14. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more

    2023Journal of Clinical Investigation35 citations Open access

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15. Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy

    Yang-Fan P. Liu, Daniëlle G. M. Bosch, A. Siemiątkowska, N. D. Rendtorff +5 more

    2016Ophthalmic Genetics33 citations Open access

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16. Chromosomal aberrations in cerebral visual impairment.

    Daniëlle G. M. Bosch, F. Boonstra, M. Reijnders, R. Pfundt +2 more

    2014European journal of paediatric neurology31 citations

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17. Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

    A. Siemiątkowska, J. Schuurs-Hoeijmakers, Daniëlle G. M. Bosch, F. Boonstra +6 more

    2014JAMA ophthalmology30 citations Open access

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18. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

    D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more

    2023American Journal of Human Genetics28 citations Open access

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19. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    Anna Tracewska-Siemiątkowska, L. Haer-Wigman, Daniëlle G. M. Bosch, D. Nickerson +8 more

    2017Genes25 citations Open access

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20. Cerebral visual impairment and intellectual disability caused by PGAP1 variants

    Daniëlle G. M. Bosch, F. Boonstra, T. Kinoshita, S. Jhangiani +5 more

    2015European Journal of Human Genetics22 citations Open access

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21. Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain

    L. N. van de Lagemaat, B. Nijhof, Daniëlle G. M. Bosch, M. Kohansal-Nodehi +2 more

    2014Frontiers in Neuroscience21 citations Open access

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22. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

    N. Vos, S. Haghshenas, Liselot van der Laan, P. M. Russel +56 more

    2024Human Genetics7 citations Open access

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23. Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.

    Daniëlle G. M. Bosch, F. Boonstra, R. Pfundt, F. Cremers +1 more

    2015Clinical Dysmorphology3 citations

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24. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

    D. Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson +113 more

    2025American Journal of Human Genetics1 citations

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25. Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures

    D. Rots, Eric J Chater-Diehl, A. Dingemans, Michelle T. Siu +45 more

    20201 citations

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26. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    Chun-An Chen, Daniëlle G. M. Bosch, Megan T. Cho Scm, J. Rosenfeld +31 more

    2017Genetics in Medicine1 citations Open access

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27. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    S. Jansen, A. Hoischen, Bradley P. Coe, G. Carvill +37 more

    2017European Journal of Human Genetics1 citations Open access

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28. Brachydactyly: a rare complication of sickle cell anaemia.

    Daniëlle G. M. Bosch, C. V. van Nieuwenhoven, A. Hoogeboom

    2011Clinical Dysmorphology1 citations

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29. Digenic inheritance of heterozygous RP1L1 and C2orf71 variants in syndromic retinitis pigmentosa

    F. Cremers, Yang-Fan P. Liu, Daniëlle G. M. Bosch, A. Siemiątkowska +6 more

    20150 citations

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