Joep de Ligt, PhD - Hubrecht Institue - Postdoc

Joep de Ligt

PhD

Hubrecht Institue

Postdoc

Main Specialties: Biotechnology

Additional Specialties: Bioinformatics

Joep de Ligt, PhD - Hubrecht Institue - Postdoc

Joep de Ligt

PhD

Introduction

Primary Affiliation: Hubrecht Institue

Specialties:

Additional Specialties:

Publications

14Publications

698Reads

-Profile Views

949PubMed Central Citations

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4312DOI Listing
April 2014
34 Reads
2.514 Impact Factor

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014
50 Reads
14 Citations
10.931 Impact Factor

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22387DOI Listing
October 2013
34 Reads
31 Citations
5.144 Impact Factor

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gde.2013.01.007DOI Listing
June 2013
25 Reads
11 Citations
7.574 Impact Factor

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1206524DOI Listing
November 2012
65 Reads
408 Citations
55.873 Impact Factor

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1517/14712598.2012.670632DOI Listing
June 2012
4 Reads
20 Citations
3.743 Impact Factor

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

J Med Genet 2012 Mar;49(3):179-83

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2011-100542DOI Listing
March 2012
58 Reads
41 Citations
6.340 Impact Factor

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.712DOI Listing
December 2010
20 Reads
250 Citations
29.352 Impact Factor