Publications by authors named "Niklas Krumm"

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Clinical Bioinformatician Body of Knowledge-Bioinformatics and Software Core: A Report of the Association for Molecular Pathology.
Sabah Kadri, Kelly E Craven, Amber M Fussell, Elaine P S Gee, Danielle Jordan, Niklas Krumm

J Mol Diagn· July 2025

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Diagnosis of Ovarian Carcinoma Homologous Recombination DNA Repair Deficiency From Targeted Gene Capture Oncology Assays.
Niklas Krumm, Nithisha S Khasnavis, Marc Radke, Kalyan Banda, Helen R Davies

JCO Precis Oncol· May 2023

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Organizational and Technical Security Considerations for Laboratory Cloud Computing.
Niklas Krumm

J Appl Lab Med· January 2023

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Elevated White Blood Cell Count Does Not Predict Clostridium difficile Nucleic Acid Testing Results.
Dustin E Bosch, Patrick C Mathias, Niklas Krumm, Andrew Bryan, Ferric C Fang

Clin Infect Dis· August 2021

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Practical estimation of cloud storage costs for clinical genomic data.
Niklas Krumm, Noah Hoffman

Pract Lab Med· August 2020

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Serology Is More Sensitive Than Urea Breath Test or Stool Antigen for the Initial Diagnosis of Helicobacter pylori Gastritis When Compared With Histopathology.
Dustin E Bosch, Niklas Krumm, Mark H Wener, Matthew M Yeh, Camtu D Truong

Am J Clin Pathol· July 2020

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Response to Pembrolizumab in a Patient With Xeroderma Pigmentosum and Advanced Squamous Cell Carcinoma.
Angela Steineck, Niklas Krumm, Jay F Sarthy, Colin C Pritchard, Teresa Chapman

JCO Precis Oncol· September 2019

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Genetic testing to resolve the source of haemolytic antibody in solid organ transplantation.
Hamilton C Tsang, Annie N Samraj, Ryan J Morse, Niklas Krumm, John R Hess

Blood Transfus· July 2019

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Technical, Biological, and Systems Barriers for Molecular Clinical Decision Support.
Niklas Krumm, Brian H Shirts

Clin Lab Med· June 2019

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Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
Joseph M Tilghman, Albee Y Ling, Tychele N Turner, Maria X Sosa, Niklas Krumm

N Engl J Med· April 2019

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denovo-db: a compendium of human de novo variants.
Tychele N Turner, Qian Yi, Niklas Krumm, John Huddleston, Kendra Hoekzema

Nucleic Acids Res· January 2017

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Global diversity, population stratification, and selection of human copy-number variation.
Peter H Sudmant, Swapan Mallick, Bradley J Nelson, Fereydoun Hormozdiari, Niklas Krumm

Science· September 2015

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Excess of rare, inherited truncating mutations in autism.
Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri

Nat Genet· June 2015

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Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.
Catarina D Campbell, Kiana Mohajeri, Maika Malig, Fereydoun Hormozdiari, Benjamin Nelson, Niklas Krumm

PLoS One· April 2015

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The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm

Nature· November 2014

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Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Alexander Hoischen, Niklas Krumm, Evan E Eichler

Nat Neurosci· June 2014

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A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont, Bradley P Coe, Micha Hersch, Michael H Duyzend, Niklas Krumm

Am J Hum Genet· March 2014

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A de novo convergence of autism genetics and molecular neuroscience.
Niklas Krumm, Brian J O'Roak, Jay Shendure, Evan E Eichler

Trends Neurosci· February 2014

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Transmission disequilibrium of small CNVs in simplex autism.
Niklas Krumm, Brian J O'Roak, Emre Karakoc, Kiana Mohajeri, Ben Nelson

Am J Hum Genet· October 2013

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Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Caitlin Rippey, Tom Walsh, Suleyman Gulsuner, Matt Brodsky, Alex S Nord, Niklas Krumm

Am J Hum Genet· October 2013

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Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Nadine Norton, Duanxiang Li, Evadnie Rampersaud, Ana Morales, Eden R Martin, Niklas Krumm

Circ Cardiovasc Genet· April 2013

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J O'Roak, Laura Vives, Wenqing Fu, Jarrett D Egertson, Ian B Stanaway, Niklas Krumm

Science· December 2012

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Copy number variation detection and genotyping from exome sequence data.
Niklas Krumm, Peter H Sudmant, Arthur Ko, Brian J O'Roak, Maika Malig

Genome Res· August 2012

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm

Nature· April 2012

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Allele-specific transcriptional elongation regulates monoallelic expression of the IGF2BP1 gene.
Brandon J Thomas, Eric D Rubio, Niklas Krumm, Pilib O Broin, Karol Bomsztyk, Anton Krumm

Epigenetics Chromatin· August 2011

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