Marjan M Weiss

Marjan M Weiss

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Marjan M Weiss

Marjan M Weiss

Publications by authors named "Marjan M Weiss"

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Fetal fraction evaluation in non-invasive prenatal screening (NIPS).

Eur J Hum Genet 2019 02 25;27(2):198-202. Epub 2018 Sep 25.

Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0271-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336813PMC
February 2019

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393656PMC
February 2019

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

Eur J Hum Genet 2017 12 8;25(12):1354-1363. Epub 2017 Nov 8.

Clinical Genetics, VU University Medical Center Amsterdam, van der Boechorststraat 7 (BS7/J377), 1081 BT, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0005-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865163PMC
December 2017

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.

Am J Med Genet B Neuropsychiatr Genet 2017 Apr 8;174(3):220-226. Epub 2016 Jun 8.

Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363380PMC
April 2017

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Recessive ITPA mutations cause an early infantile encephalopathy.

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.24496DOI Listing
October 2015

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Eur J Hum Genet 2015 Sep 24;23(9):1151-7. Epub 2014 Dec 24.

1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208PMC
September 2015

First steps in exploring prospective exome sequencing of consanguineous couples.

Eur J Med Genet 2014 Nov-Dec;57(11-12):613-6. Epub 2014 Oct 2.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2014.09.003DOI Listing
July 2015

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Acta Neuropathol Commun 2014 Dec 5;2:148. Epub 2014 Dec 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s40478-014-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450PMC
December 2014

Detection limits of DNA copy number alterations in heterogeneous cell populations.

Cell Oncol (Dordr) 2013 Feb 2;36(1):27-36. Epub 2012 Nov 2.

Department of Pathology, VU University Medical Center, MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s13402-012-0108-2DOI Listing
February 2013

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Mol Vis 2012 18;18:1918-26. Epub 2012 Jul 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413445PMC
December 2012

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

Breast Cancer Res Treat 2010 Dec 27;124(3):635-41. Epub 2010 Feb 27.

Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Centre, Be414, Erasmus MC, CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10549-010-0801-7DOI Listing
December 2010

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cell Oncol 2010 Jan;32(4):275-83

Department of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, Spain.

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http://dx.doi.org/10.3233/CLO-2009-0498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619289PMC
January 2010

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.

Endocr Relat Cancer 2009 Sep 22;16(3):929-37. Epub 2009 Jun 22.

Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1677/ERC-09-0084DOI Listing
September 2009

Chromosomal changes in sporadic and familial head and neck paragangliomas.

Otolaryngol Head Neck Surg 2009 May 9;140(5):724-9. Epub 2009 Mar 9.

Department of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.otohns.2009.01.004DOI Listing
May 2009

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

Cancer Res 2009 Apr 7;69(8):3650-6. Epub 2009 Apr 7.

Department of Nephrology, Section of Preventive Medicine, Albert-Ludwigs University, Freiburg, Germany.

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http://cancerres.aacrjournals.org/content/early/2009/04/07/0
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http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.
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http://dx.doi.org/10.1158/0008-5472.CAN-08-4057DOI Listing
April 2009

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.003DOI Listing
November 2008

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201871DOI Listing
October 2007

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

Fam Cancer 2007 ;6(1):43-51

Department of Pathology, Leiden University Medical Center, Building L1Q, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10689-006-9103-yDOI Listing
September 2007

MUTYH and the mismatch repair system: partners in crime?

Hum Genet 2006 Mar 12;119(1-2):206-11. Epub 2006 Jan 12.

Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0118-5DOI Listing
March 2006

Comparative genomic hybridization in cancer investigations.

Methods Mol Biol 2002 ;204:369-78

Department of Gastroenterology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-300-3:369DOI Listing
March 2003

Genomic profiling of gastric cancer predicts lymph node status and survival.

Oncogene 2003 Mar;22(12):1872-9

Department of Gastroenterology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.onc.1206350DOI Listing
March 2003

Genetic alterations in childhood medulloblastoma analyzed by comparative genomic hybridization.

J Pediatr Hematol Oncol 2002 Mar-Apr;24(3):205-10

Department of Pediatric Oncology, Emma Kinderziekenhuis/Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/00043426-200203000-00009DOI Listing
May 2002