Publications by authors named "Danielle G M Bosch"

18Publications

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

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Novel genetic causes for cerebral visual impairment.

Eur J Hum Genet 2016 May 9;24(5):660-5. Epub 2015 Sep 9.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930090PMC
May 2016

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Eur J Hum Genet 2015 Dec 25;23(12):1689-93. Epub 2015 Mar 25.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795198PMC
December 2015

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

Front Neurosci 2014 8;8:394. Epub 2014 Dec 8.

Cortical Structure and Function Group, Netherlands Institute for Neuroscience Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fnins.2014.00394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259106PMC
December 2014

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

Clin Dysmorphol 2015 Jan;24(1):34-7

aBartiméus Institute for the Visually Impaired, Zeist bDepartment of Human Genetics cDonders Institute for Brain, Cognition and Behavior dRadboud Institute for Molecular Life Science, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0000000000000062DOI Listing
January 2015

Chromosomal aberrations in cerebral visual impairment.

Eur J Paediatr Neurol 2014 Nov 22;18(6):677-84. Epub 2014 May 22.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.05.002DOI Listing
November 2014

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

BMC Ophthalmol 2014 May 1;14:59. Epub 2014 May 1.

Department of Human Genetics, Radboud University Medical Center, P,O, Box 9101, Nijmegen, HB 6500, The Netherlands.

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http://dx.doi.org/10.1186/1471-2415-14-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021540PMC
May 2014

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

JAMA Ophthalmol 2014 Aug;132(8):1002-4

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.983DOI Listing
August 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

Brachydactyly: a rare complication of sickle cell anaemia.

Clin Dysmorphol 2011 Jul;20(3):172-3

Departments of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e328345895fDOI Listing
July 2011