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Publications Authored by Jonas Denecke | PubFacts
Jonas Denecke

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Publications by authors named "Jonas Denecke"

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Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

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Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

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January 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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October 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

[The Need for Psychosocial Support in Parents of Chronically Ill Children].

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November 2017

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

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Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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October 2017

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

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Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529 Hamburg, Germany. Electronic address:

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October 2017

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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September 2017

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

Neuropediatrics 2016 Jun 4;47(3):194-6. Epub 2016 Apr 4.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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June 2016

Brainstem disconnection: two additional patients and expansion of the phenotype.

Neuropediatrics 2015 Apr 11;46(2):139-44. Epub 2015 Feb 11.

Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.

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April 2015

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique.

Authors:
Jonas Denecke

Methods Mol Biol 2013 ;992:383-6

Department of Paediatrics, University Hospital Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.

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September 2013

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

Nephrol Dial Transplant 2011 Jan 5;26(1):136-43. Epub 2010 Jul 5.

Division of Pediatric Nephrology, University Children’s Hospital, University of Heidelberg, Heidelberg, Germany.

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January 2011

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Mol Genet Metab 2009 Nov 24;98(3):305-9. Epub 2009 Jun 24.

Klinik für Kinder- und Jugendmedizin, Münster, Germany.

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November 2009

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Biochim Biophys Acta 2009 Sep 25;1792(9):915-20. Epub 2008 Dec 25.

University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16/17, 18057 Rostock, Germany.

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September 2009

Hypoglycosylation due to dolichol metabolism defects.

Biochim Biophys Acta 2009 Sep 3;1792(9):888-95. Epub 2009 Feb 3.

Department of Pediatrics, University Hospital of Rostock, Rembrandtstrabetae 16/17, 18057 Rostock, Germany.

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September 2009

Biomarkers and diagnosis of congenital disorders of glycosylation.

Authors:
Jonas Denecke

Expert Opin Med Diagn 2009 Jul;3(4):395-409

Department of Pediatrics, Rembrandtstraße 16/17, 18057 Rostock, Germany +00 49 381 4947060 ; +00 49 381 4947051 ;

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July 2009

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

Blood 2006 May 2;107(10):3959-66. Epub 2006 Feb 2.

Max Planck Institute of Molecular Biomedicine and Institute of Cell Biology, ZMBE, University of Münster, Von-Esmarch-Strasse 56, 48149 Münster, Germany.

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http://dx.doi.org/10.1182/blood-2005-08-3334DOI Listing
May 2006

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Ann Neurol 2005 Jan;57(1):148-51

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

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January 2005

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

Blood 2003 Dec 21;102(13):4576-81. Epub 2003 Aug 21.

Abteilung Innere Medizin III (Hematology/Oncology) der Universität Ulm, Robert Koch Str 8, D-89081 Ulm, Germany.

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December 2003