Publications by authors named "Lisenka Vissers"

97Publications

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.

Reprod Biomed Online 2019 Dec 22;39(6):963-968. Epub 2019 Aug 22.

Department of Urology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.rbmo.2019.08.005DOI Listing
December 2019

A systematic review and standardized clinical validity assessment of male infertility genes.

Hum Reprod 2019 05;34(5):932-941

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.

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https://academic.oup.com/humrep/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/humrep/dez022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505449PMC
May 2019

1 in 38 individuals at risk of a dominant medically actionable disease.

Eur J Hum Genet 2019 02 5;27(2):325-330. Epub 2018 Oct 5.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41431-018-0284-2
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http://dx.doi.org/10.1038/s41431-018-0284-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336841PMC
February 2019

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Am J Hum Genet 2017 Sep 31;101(3):478-484. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591029PMC
September 2017

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 2017

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Hum Mutat 2017 05 15;38(5):548-555. Epub 2017 Feb 15.

Department of Paediatrics, School of Medicine, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1002/humu.23190DOI Listing
May 2017

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.

Clin Chem 2016 Nov 14;62(11):1458-1464. Epub 2016 Sep 14.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center.

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http://dx.doi.org/10.1373/clinchem.2016.258632DOI Listing
November 2016

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

Parent-of-origin-specific signatures of de novo mutations.

Nat Genet 2016 08 20;48(8):935-9. Epub 2016 Jun 20.

Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1038/ng.3597DOI Listing
August 2016

Standardized phenotyping enhances Mendelian disease gene identification.

Nat Genet 2015 Nov;47(11):1222-4

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1038/ng.3425DOI Listing
November 2015

Genetic studies in intellectual disability and related disorders.

Nat Rev Genet 2016 Jan 27;17(1):9-18. Epub 2015 Oct 27.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/nrg3999DOI Listing
January 2016

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

Genom Data 2014 Dec;2:144-146

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.gdata.2014.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866PMC
December 2014

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Am J Hum Genet 2015 Jul 6;97(1):67-74. Epub 2015 Jun 6.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute of Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571017PMC
July 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

A recent bottleneck of Y chromosome diversity coincides with a global change in culture.

Authors:
Monika Karmin Lauri Saag Mário Vicente Melissa A Wilson Sayres Mari Järve Ulvi Gerst Talas Siiri Rootsi Anne-Mai Ilumäe Reedik Mägi Mario Mitt Luca Pagani Tarmo Puurand Zuzana Faltyskova Florian Clemente Alexia Cardona Ene Metspalu Hovhannes Sahakyan Bayazit Yunusbayev Georgi Hudjashov Michael DeGiorgio Eva-Liis Loogväli Christina Eichstaedt Mikk Eelmets Gyaneshwer Chaubey Kristiina Tambets Sergei Litvinov Maru Mormina Yali Xue Qasim Ayub Grigor Zoraqi Thorfinn Sand Korneliussen Farida Akhatova Joseph Lachance Sarah Tishkoff Kuvat Momynaliev François-Xavier Ricaut Pradiptajati Kusuma Harilanto Razafindrazaka Denis Pierron Murray P Cox Gazi Nurun Nahar Sultana Rane Willerslev Craig Muller Michael Westaway David Lambert Vedrana Skaro Lejla Kovačevic Shahlo Turdikulova Dilbar Dalimova Rita Khusainova Natalya Trofimova Vita Akhmetova Irina Khidiyatova Daria V Lichman Jainagul Isakova Elvira Pocheshkhova Zhaxylyk Sabitov Nikolay A Barashkov Pagbajabyn Nymadawa Evelin Mihailov Joseph Wee Tien Seng Irina Evseeva Andrea Bamberg Migliano Syafiq Abdullah George Andriadze Dragan Primorac Lubov Atramentova Olga Utevska Levon Yepiskoposyan Damir Marjanovic Alena Kushniarevich Doron M Behar Christian Gilissen Lisenka Vissers Joris A Veltman Elena Balanovska Miroslava Derenko Boris Malyarchuk Andres Metspalu Sardana Fedorova Anders Eriksson Andrea Manica Fernando L Mendez Tatiana M Karafet Krishna R Veeramah Neil Bradman Michael F Hammer Ludmila P Osipova Oleg Balanovsky Elza K Khusnutdinova Knut Johnsen Maido Remm Mark G Thomas Chris Tyler-Smith Peter A Underhill Eske Willerslev Rasmus Nielsen Mait Metspalu Richard Villems Toomas Kivisild

Genome Res 2015 Apr 13;25(4):459-66. Epub 2015 Mar 13.

Estonian Biocentre, Tartu, 51010, Estonia; Division of Biological Anthropology, University of Cambridge, Cambridge, CB2 1QH, United Kingdom;

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https://bib.irb.hr/datoteka/715300.2015_Genome_Res._Karmin-A
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http://genome.cshlp.org/lookup/doi/10.1101/gr.186684.114
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http://dx.doi.org/10.1101/gr.186684.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381518PMC
April 2015

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PLoS One 2014 18;9(11):e112687. Epub 2014 Nov 18.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Biochemistry, Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112687PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236113PMC
July 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Genome sequencing identifies major causes of severe intellectual disability.

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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http://dx.doi.org/10.1038/nature13394DOI Listing
July 2014

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

J Med Genet 2014 Jul 8;51(7):487-94. Epub 2014 May 8.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-102182
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http://dx.doi.org/10.1136/jmedgenet-2013-102182DOI Listing
July 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

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Prenat Diagn 2014 Apr 6;34(4):402-5. Epub 2014 Feb 6.

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

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http://dx.doi.org/10.1002/pd.4312DOI Listing
April 2014

Detection of clinically relevant copy number variants with whole-exome sequencing.

Hum Mutat 2013 Oct 30;34(10):1439-48. Epub 2013 Aug 30.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22387DOI Listing
October 2013

Point mutations as a source of de novo genetic disease.

Curr Opin Genet Dev 2013 Jun 1;23(3):257-63. Epub 2013 Mar 1.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.gde.2013.01.007DOI Listing
June 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012

Diagnostic exome sequencing in persons with severe intellectual disability.

N Engl J Med 2012 Nov 3;367(20):1921-9. Epub 2012 Oct 3.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1206524DOI Listing
November 2012

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells.

Expert Opin Biol Ther 2012 Jun 16;12 Suppl 1:S19-26. Epub 2012 Apr 16.

Radboud University Nijmegen Medical Centre, Department of Human Genetics, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1517/14712598.2012.670632DOI Listing
June 2012

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Eur J Hum Genet 2012 Jul 1;20(7):729-33. Epub 2012 Feb 1.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376266PMC
July 2012

Microdeletion and microduplication syndromes.

Methods Mol Biol 2012 ;838:29-75

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-61779-507-7_2DOI Listing
April 2012

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

J Med Genet 2011 Nov 3;48(11):776-8. Epub 2011 Oct 3.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100147
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http://dx.doi.org/10.1136/jmedgenet-2011-100147DOI Listing
November 2011

A de novo paradigm for mental retardation.

Nat Genet 2010 Dec 14;42(12):1109-12. Epub 2010 Nov 14.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng.712DOI Listing
December 2010

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.

J Med Genet 2010 May 30;47(5):289-97. Epub 2009 Nov 30.

Department of Human Genetics-855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2009.072942DOI Listing
May 2010

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Am J Med Genet A 2007 Aug;143A(16):1858-67

Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31850DOI Listing
August 2007

Identification of disease genes by whole genome CGH arrays.

Hum Mol Genet 2005 Oct;14 Spec No. 2:R215-23

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddi268DOI Listing
October 2005