Jasper J Smagt

Jasper J van der Smagt

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Jasper J Smagt

Jasper J van der Smagt

Publications by authors named "Jasper J van der Smagt"

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1PubMed Central Citations

Pulmonary fibrosis linked to variants in the gene, encoding the telomere protein TPP1.

Eur Respir J 2019 Dec 19;54(6). Epub 2019 Dec 19.

Dept of Pulmonology, Interstitial Lung Diseases Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands

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http://dx.doi.org/10.1183/13993003.00809-2019DOI Listing
December 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin.

JAAD Case Rep 2018 Mar 2;4(2):192-195. Epub 2018 Feb 2.

Department of Dermatology, Sophia Children's Hospital, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jdcr.2017.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993535PMC
March 2018

Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation.

Heart Rhythm 2017 07 11;14(7):1035-1040. Epub 2017 Jan 11.

Department of Cardiology, University Medical Centre, Utrecht, The Netherlands; Department of Internal Medicine and Cardiology, Bergman Clinics, Bilthoven, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2017.01.010DOI Listing
July 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Am J Med Genet A 2017 Feb 7;173(2):519-523. Epub 2016 Nov 7.

Department of Cardiology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38033DOI Listing
February 2017

A patient with early repolarization syndrome and concurrent Brugada syndrome: Demonstration of a different pathophysiology?

Int J Cardiol 2016 Nov 5;223:58-60. Epub 2016 Aug 5.

Department of Cardiology, University Medical Centre, Utrecht, the Netherlands; Department of Internal Medicine and Cardiology, Bergman Clinics, Bilthoven, the Netherlands.

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http://dx.doi.org/10.1016/j.ijcard.2016.08.072DOI Listing
November 2016

Long-Term Outcome of Patients Initially Diagnosed With Idiopathic Ventricular Fibrillation: A Descriptive Study.

Circ Arrhythm Electrophysiol 2016 10;9(10)

From the Departments of Cardiology (M.V., J.F.v.d.H., P.A.D., P.L., R.J.H.) and Clinical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands; Department of Internal Medicine and Cardiology, Bergman Clinics, Bilthoven, The Netherlands (M.V., R.J.H.); and Department of Clinical and Experimental Cardiology, Heart Centre, AMC, Amsterdam, The Netherlands (A.A.W.).

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http://dx.doi.org/10.1161/CIRCEP.116.004258DOI Listing
October 2016

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

Monocarboxylate transporter 1 deficiency and ketone utilization.

N Engl J Med 2014 Nov;371(20):1900-7

From the Division of Pediatrics, Department of Metabolic Diseases (P.M.H., G.V.), and the Division of Pediatrics, Department of Pediatric Gastroenterology (R.H.J.H.), Wilhelmina Children's Hospital, and the Center for Molecular Medicine, Department of Medical Genetics (G.R.M., M.J.G., K.D., M.H., B.Z., J.J.S., N.M.V.-D., G.H.), University Medical Center Utrecht, Utrecht, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, Amsterdam (S.F., J.P.N.R., M.T., R.J.A.W.), the Division of Pediatrics, Department of Metabolic Diseases, and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht (M.E.R.-G.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen (M.C.V.) - all in the Netherlands; the National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland (A.A.M.); the Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey (I.O.); and the Department of Paediatric Metabolic Medicine, Sheffield Children's Hospital, Sheffield (M.J.S.), the Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London (M.C.), Chemical Pathology, Department of Laboratory Medicine, Salisbury (N.O.), and the Department of Clinical Biochemistry, Southampton General Hospital, Southampton (V.W.) - all in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1407778DOI Listing
November 2014

Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.

Arterioscler Thromb Vasc Biol 2013 Jul 25;33(7):1538-43. Epub 2013 Apr 25.

Biomolecular Mass Spectrometry and Proteomics and Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1161/ATVBAHA.112.300916DOI Listing
July 2013

Mutation update for the PORCN gene.

Hum Mutat 2011 Jul 21;32(7):723-8. Epub 2011 Jun 21.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.21505DOI Listing
July 2011

Systematic review of pregnancy in women with inherited cardiomyopathies.

Eur J Heart Fail 2011 Jun 11;13(6):584-94. Epub 2011 Apr 11.

Department of Cardiology and Experimental Cardiology, Heart Failure Research Centre, Amsterdam, Netherlands.

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http://dx.doi.org/10.1093/eurjhf/hfr040DOI Listing
June 2011

Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach.

Europace 2011 May 11;13(5):716-22. Epub 2011 Jan 11.

Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1093/europace/euq460DOI Listing
May 2011

New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Circ Arrhythm Electrophysiol 2009 Oct 7;2(5):524-30. Epub 2009 Jul 7.

Department of Cardiology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1161/CIRCEP.108.832519DOI Listing
October 2009

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Hum Mutat 2009 Sep;30(9):1278-83

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

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http://dx.doi.org/10.1002/humu.21064DOI Listing
September 2009

Dominant-negative ALK2 allele associates with congenital heart defects.

Circulation 2009 Jun 8;119(24):3062-9. Epub 2009 Jun 8.

Associate Professor, Cardiac Development and Genetics Group, Hubrecht Institute for Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584 CT Utrecht, Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.108.843714DOI Listing
June 2009

A duplication including GATA4 does not co-segregate with congenital heart defects.

Am J Med Genet A 2009 May;149A(5):1062-6

Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32769DOI Listing
May 2009

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Eur J Hum Genet 2009 Jan 1;17(1):129-32. Epub 2008 Oct 1.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://www.nature.com/articles/ejhg2008168
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985965PMC
January 2009

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Nat Genet 2004 Apr 7;36(4):411-6. Epub 2004 Mar 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ng1321DOI Listing
April 2004

Clinical applications of cell-free fetal DNA from maternal plasma.

Obstet Gynecol 2004 Jan;103(1):157-64

Division of Perinatology and Gynecology, University Medical Center Utrecht, Utrecht.

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http://dx.doi.org/10.1097/01.AOG.0000103996.44503.F1DOI Listing
January 2004