Publications by authors named "Kaja K Selmer"

20Publications

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Pharmacokinetic interaction between modified Atkins diet and antiepileptic drugs in adults with drug-resistant epilepsy.

Epilepsia 2019 11 10;60(11):2235-2244. Epub 2019 Oct 10.

Department of Nutrition, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1111/epi.16364DOI Listing
November 2019

Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial.

Epilepsia 2018 08 14;59(8):1567-1576. Epub 2018 Jun 14.

National Center for Epilepsy, Oslo University Hospital, Sandvika, Norway.

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http://doi.wiley.com/10.1111/epi.14457
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http://dx.doi.org/10.1111/epi.14457DOI Listing
August 2018

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Mol Syndromol 2016 Sep 17;7(4):234-238. Epub 2016 Aug 17.

Laboratory of Neurogenetics, Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, University of Genoa, 'G. Gaslini' Institute, Genoa, Rome, Italy.

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http://dx.doi.org/10.1159/000448367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073591PMC
September 2016

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

Bioinformatics 2016 05 27;32(10):1592-4. Epub 2016 Jan 27.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo N-0424.

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http://dx.doi.org/10.1093/bioinformatics/btw046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866527PMC
May 2016

A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy.

Epilepsy Behav 2015 Dec 14;53:197-201. Epub 2015 Nov 14.

Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Neurology, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1016/j.yebeh.2015.10.021DOI Listing
December 2015

Aicardi syndrome: an epidemiologic and clinical study in Norway.

Pediatr Neurol 2015 Feb 31;52(2):182-6.e3. Epub 2014 Oct 31.

Department of Medical Genetics, Oslo University Hospital and the University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.022DOI Listing
February 2015

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

Eur J Med Genet 2012 Dec 23;55(12):715-8. Epub 2012 Aug 23.

Department of Medical Genetics, Oslo University Hospital, Postboks 4956 Nydalen, 0424 Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.005DOI Listing
December 2012

Genome-wide linkage analysis with clustered SNP markers.

J Biomol Screen 2009 Jan;14(1):92-6

Institute of Medical Genetics, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1177/1087057108327327DOI Listing
January 2009