Publications by authors named "Marjolein Kriek"

35Publications

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.

Clin Pharmacol Ther 2020 03 21;107(3):617-627. Epub 2019 Nov 21.

Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/cpt.1665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027978PMC
March 2020

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

Next-generation diagnostics: gene panel, exome, or whole genome?

Hum Mutat 2015 Jun 17;36(6):648-55. Epub 2015 Apr 17.

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

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http://dx.doi.org/10.1002/humu.22783DOI Listing
June 2015

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Am J Med Genet A 2013 May 13;161A(5):973-6. Epub 2013 Mar 13.

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

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http://doi.wiley.com/10.1002/ajmg.a.35808
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http://dx.doi.org/10.1002/ajmg.a.35808DOI Listing
May 2013

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Epigenetics 2012 Nov 25;7(11):1219-24. Epub 2012 Sep 25.

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

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http://dx.doi.org/10.4161/epi.22299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499322PMC
November 2012

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.003DOI Listing
January 2011

Refinement of the genetic cause of ATR-16.

Hum Genet 2007 Nov 28;122(3-4):283-92. Epub 2007 Jun 28.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center (LUMC), 2333RC Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-007-0399-yDOI Listing
November 2007

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Am J Med Genet A 2007 Mar;143A(6):610-4

Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31593DOI Listing
March 2007

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Am J Hum Genet 2006 Sep 19;79(3):562-6. Epub 2006 Jul 19.

Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970762756
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http://dx.doi.org/10.1086/507567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559553PMC
September 2006