Marjan Weiss

Marjan Weiss

UNVERIFIED PROFILE

Are you Marjan Weiss?   Register this Author

Register author
Marjan Weiss

Marjan Weiss

Publications by authors named "Marjan Weiss"

Are you Marjan Weiss?   Register this Author

63Publications

1780Reads

11Profile Views

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy.

Prenat Diagn 2016 Aug 17;36(8):790-3. Epub 2016 Jul 17.

Department of Obstetrics and Gynecology, University Medical Center, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4863DOI Listing
August 2016

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:

View Article

Download full-text PDF

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

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation.

Clin Dysmorphol 2015 Apr;24(2):68-74

aDepartment of Clinical Genetics, AMC Departments of bClinical Genetics cGynaecology, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000075DOI Listing
April 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://cancerres.aacrjournals.org/content/early/2009/04/07/0
Web Search
http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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