Publications by authors named "Jessika Johannsen"

24Publications

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.

Neuropediatrics 2020 Aug 20. Epub 2020 Aug 20.

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

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http://dx.doi.org/10.1055/s-0040-1710588DOI Listing
August 2020

Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 03;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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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02011-xDOI Listing
June 2019

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

Prax Kinderpsychol Kinderpsychiatr 2017 Nov;66(9):687-701

Universitätsklinikum Hamburg-Eppendorf Klinik für Kinder- und Jugendpsychiatrie, -psychotherapie und -psychosomatik Martinistraße 52 20246 Hamburg Deutschland UKE - Kinder- und Jugendpsychiatrie.

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http://dx.doi.org/10.13109/prkk.2017.66.9.687DOI Listing
November 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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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

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

Pediatr Neonatol 2017 10 22;58(5):458-459. Epub 2016 Nov 22.

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

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http://dx.doi.org/10.1016/j.pedneo.2016.05.007DOI Listing
October 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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http://dx.doi.org/10.1055/s-0036-1579784DOI Listing
June 2016