Publications by authors named "Niklas Krumm"

21Publications

Practical estimation of cloud storage costs for clinical genomic data.

Pract Lab Med 2020 Aug 15;21:e00168. Epub 2020 May 15.

Department of Laboratory Medicine, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.plabm.2020.e00168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276491PMC
August 2020

Genetic testing to resolve the source of haemolytic antibody in solid organ transplantation.

Blood Transfus 2019 07 5;17(4):307-311. Epub 2019 Jun 5.

Division of Transfusion Medicine, Department of Laboratory Medicine, University of Washington School of Medicine, Seattle, WA, United States of America.

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http://dx.doi.org/10.2450/2019.0054-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683870PMC
July 2019

Technical, Biological, and Systems Barriers for Molecular Clinical Decision Support.

Clin Lab Med 2019 06 28;39(2):281-294. Epub 2019 Mar 28.

Department of Laboratory Medicine, University of Washington, Box 357110, 1959 Northeast Pacific Street, NW120, Seattle, WA 98195-7110, USA.

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http://dx.doi.org/10.1016/j.cll.2019.01.007DOI Listing
June 2019

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

N Engl J Med 2019 Apr;380(15):1421-1432

From the Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore (J.M.T., A.Y.L., T.N.T., M.X.S., S.C., A.K., K.-D.H.N., C.B., A.C.); the Department of Genome Sciences, University of Washington School of Medicine (T.N.T., N.K., A.K., B.P.C., E.E.E.), and the Howard Hughes Medical Institute, University of Washington (E.E.E.) - both in Seattle; and Broad Institute of Harvard and MIT, Cambridge, MA (K.-D.H.N., N.G., S.G.).

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http://dx.doi.org/10.1056/NEJMoa1706594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596298PMC
April 2019

denovo-db: a compendium of human de novo variants.

Nucleic Acids Res 2017 01 5;45(D1):D804-D811. Epub 2016 Oct 5.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/nar/gkw865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210614PMC
January 2017

Excess of rare, inherited truncating mutations in autism.

Nat Genet 2015 Jun 11;47(6):582-8. Epub 2015 May 11.

1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449286PMC
June 2015

Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Nat Neurosci 2014 Jun 27;17(6):764-72. Epub 2014 May 27.

1] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/nn.3703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077789PMC
June 2014

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Am J Hum Genet 2014 Mar 27;94(3):415-25. Epub 2014 Feb 27.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140005
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http://dx.doi.org/10.1016/j.ajhg.2014.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951938PMC
March 2014

A de novo convergence of autism genetics and molecular neuroscience.

Trends Neurosci 2014 Feb 30;37(2):95-105. Epub 2013 Dec 30.

Department of Genome Sciences, University of Washington, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2013.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077788PMC
February 2014

Transmission disequilibrium of small CNVs in simplex autism.

Am J Hum Genet 2013 Oct 12;93(4):595-606. Epub 2013 Sep 12.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791263PMC
October 2013

Copy number variation detection and genotyping from exome sequence data.

Genome Res 2012 Aug 14;22(8):1525-32. Epub 2012 May 14.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1101/gr.138115.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409265PMC
August 2012

Allele-specific transcriptional elongation regulates monoallelic expression of the IGF2BP1 gene.

Epigenetics Chromatin 2011 Aug 3;4:14. Epub 2011 Aug 3.

Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, 815 Mercer St,, Seattle, WA 98109, USA.

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http://dx.doi.org/10.1186/1756-8935-4-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174113PMC
August 2011