Publications by authors named "Heleen H Arts"

34Publications

ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion.

Cancer Genet 2020 01 12;240:1-4. Epub 2019 Oct 12.

McMaster University, Department of Pathology and Molecular Medicine, 1280 Main Street West, L8S 4L8, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.10.003DOI Listing
January 2020

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Front Pediatr 2018 7;6:131. Epub 2018 May 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

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http://dx.doi.org/10.3389/fped.2018.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949343PMC
May 2018

Ciliopathies: Genetics in Pediatric Medicine.

J Pediatr Genet 2017 Mar 10;6(1):18-29. Epub 2016 Nov 10.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0036-1593841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289266PMC
March 2017

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PLoS Genet 2015 Oct 20;11(10):e1005575. Epub 2015 Oct 20.

Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1005575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617701PMC
October 2015

Medical genetics of ciliopathies.

J Pediatr Genet 2014 Nov;3(2):47-48

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen,The Netherlands.

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http://dx.doi.org/10.3233/PGE-14087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269811PMC
November 2014

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Am J Hum Genet 2014 Aug 10;95(2):131-42. Epub 2014 Jul 10.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129401PMC
August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

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

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Current insights into renal ciliopathies: what can genetics teach us?

Pediatr Nephrol 2013 Jun 25;28(6):863-74. Epub 2012 Jul 25.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00467-012-2259-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631122PMC
June 2013

Scrutinizing ciliopathies by unraveling ciliary interaction networks.

Hum Mol Genet 2011 Oct 23;20(R2):R149-57. Epub 2011 Aug 23.

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

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http://dx.doi.org/10.1093/hmg/ddr354DOI Listing
October 2011

Focus on molecules: RPGRIP1.

Exp Eye Res 2009 Mar 8;88(3):332-3. Epub 2008 Apr 8.

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

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http://linkinghub.elsevier.com/retrieve/pii/S001448350800105
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http://dx.doi.org/10.1016/j.exer.2008.03.019DOI Listing
March 2009

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Proc Natl Acad Sci U S A 2005 Dec 9;102(51):18520-5. Epub 2005 Dec 9.

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

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http://dx.doi.org/10.1073/pnas.0505774102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1317916PMC
December 2005