Publications by authors named "Bernt Popp"

33Publications

Differential Coassembly of α1-GABARs Associated with Epileptic Encephalopathy.

J Neurosci 2020 Jul 8;40(29):5518-5530. Epub 2020 Jun 8.

Department of Neuroscience, Physiology and Pharmacology, University College London, London, WC1E 6BT, United Kingdom

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http://dx.doi.org/10.1523/JNEUROSCI.2748-19.2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363476PMC
July 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC Cancer 2019 May 10;19(1):435. Epub 2019 May 10.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12885-019-5633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147PMC
May 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 01 11;179(1):50-56. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
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http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019

SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients.

Hum Pathol 2018 07 22;77:139-146. Epub 2018 Apr 22.

Institute of Pathology, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital of Erlangen, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.humpath.2018.04.004DOI Listing
July 2018

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650PMC
October 2016

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

CUSHAW3: sensitive and accurate base-space and color-space short-read alignment with hybrid seeding.

PLoS One 2014 22;9(1):e86869. Epub 2014 Jan 22.

Institut für Informatik, Johannes Gutenberg Universität Mainz, Mainz, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086869PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899341PMC
September 2014