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Niklas Krumm · SciRah

Researcher profile · Semantic Scholar

Niklas Krumm

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Niklas Krumm — researcher profile on SciRah

h-index: 23
Works: 35
Citations: 11K

Most-cited papers

The contribution of de novo coding mutations to autism spectrum disorder
I. Iossifov, B. O'Roak, Stephan J Sanders, M. Ronemus +43 more
2014Nature2,512 citations Open access
Semantic Scholar
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
B. O'Roak, L. Vives, S. Girirajan, E. Karakoç +19 more
2012Nature2,209 citations Open access
Semantic Scholar
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
B. O'Roak, L. Vives, W. Fu, J. Egertson +22 more
2012Science1,259 citations Open access
Semantic Scholar
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe, K. Witherspoon, J. Rosenfeld, B. V. van Bon +35 more
2014Nature Genetics689 citations Open access
Semantic Scholar
Copy number variation detection and genotyping from exome sequence data
Niklas Krumm, P. Sudmant, Arthur Ko, B. O'Roak +5 more
2012Genome Research666 citations Open access
Semantic Scholar
Genomic data in the All of Us Research Program
A. Bick, G. Metcalf, Kelsey Mayo, Lee T. Lichtenstein +105 more
2024Nature595 citations Open access
Semantic Scholar
Excess of rare, inherited truncating mutations in autism
Niklas Krumm, Tychele N. Turner, C. Baker, L. Vives +9 more
2015Nature Genetics586 citations Open access
Semantic Scholar
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
S. Jacquemont, Bradley P. Coe, M. Hersch, Michael H. Duyzend +5 more
2014American Journal of Human Genetics581 citations Open access
Semantic Scholar
A de novo convergence of autism genetics and molecular neuroscience
Niklas Krumm, B. O'Roak, J. Shendure, E. Eichler
2013Trends in Neurosciences449 citations Open access
Semantic Scholar
Global diversity, population stratification, and selection of human copy number variation
P. Sudmant, S. Mallick, Bradley J. Nelson, F. Hormozdiari +47 more
2015Science344 citations Open access
Semantic Scholar
denovo-db: a compendium of human de novo variants
Tychele N. Turner, Q. Yi, Niklas Krumm, J. Huddleston +6 more
2016Nucleic Acids Res.195 citations Open access
Semantic Scholar
Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease
Joseph Tilghman, Albee Y. Ling, Tychele N. Turner, M. X. Sosa +10 more
2019New England Journal of Medicine157 citations Open access
Semantic Scholar
Prioritization of neurodevelopmental disease genes by discovery of new mutations
A. Hoischen, Niklas Krumm, E. Eichler
2014Nature Neuroscience157 citations Open access
Semantic Scholar
One Codex: A Sensitive and Accurate Data Platform for Genomic Microbial Identification
S. Minot, Niklas Krumm, Nick Greenfield
2015bioRxiv149 citations Open access
Semantic Scholar
Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrates the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy
N. Norton, Duanxiang Li, E. Rampersaud, A. Morales +9 more
2013Circulation: Cardiovascular Genetics124 citations Open access
Semantic Scholar
Transmission disequilibrium of small CNVs in simplex autism.
Niklas Krumm, B. O'Roak, E. Karakoç, Kiana Mohajeri +6 more
2013American Journal of Human Genetics98 citations Open access
Semantic Scholar
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
Zongxiao He, B. O'Roak, Joshua D. Smith, Gao T. Wang +9 more
2014American Journal of Human Genetics83 citations Open access
Semantic Scholar
Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3
Jessica X. Chong, Lindsay C. Burrage, A. Beck, Colby T. Marvin +60 more
2015bioRxiv65 citations Open access
Semantic Scholar
CNV analysis from exome data in 349 patients with epileptic encephalopathy
Epilepsy Phenome, Andrew S. Allen, S. Berkovic, Bradley P. Coe +71 more
2015Annals of Neurology64 citations Open access
Semantic Scholar
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Caitlin Rippey, T. Walsh, S. Gulsuner, M. Brodsky +10 more
2013American Journal of Human Genetics49 citations Open access
Semantic Scholar
Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma
Catarina D. Campbell, Kiana Mohajeri, M. Malig, F. Hormozdiari +29 more
2014PLoS ONE43 citations Open access
Semantic Scholar
Practical estimation of cloud storage costs for clinical genomic data
Niklas Krumm, N. Hoffman
2020Practical Laboratory Medicine30 citations Open access
Semantic Scholar
Serology Is More Sensitive Than Urea Breath Test or Stool Antigen for the Initial Diagnosis of Helicobacter pylori Gastritis When Compared With Histopathology.
D. Bosch, Niklas Krumm, M. Wener, Matthew M. Yeh +6 more
2020American Journal of Clinical Pathology25 citations
Semantic Scholar
Response to Pembrolizumab in a Patient With Xeroderma Pigmentosum and Advanced Squamous Cell Carcinoma.
Angela Steineck, Niklas Krumm, Jay Sarthy, C. Pritchard +4 more
2019JCO Precision Oncology14 citations Open access
Semantic Scholar
Genetic testing to resolve the source of haemolytic antibody in solid organ transplantation.
Hamilton C. Tsang, Annie N. Samraj, R. Morse, Niklas Krumm +2 more
2019Blood transfusion = Trasfusione del sangue8 citations
Semantic Scholar
Diagnosis of Ovarian Carcinoma Homologous Recombination DNA Repair Deficiency From Targeted Gene Capture Oncology Assays
Niklas Krumm, N. Khasnavis, M. Radke, Kalyan Banda +11 more
2023JCO Precision Oncology5 citations Open access
Semantic Scholar
Organizational and Technical Security Considerations for Laboratory Cloud Computing.
Niklas Krumm
2023The Journal of Applied Laboratory Medicine4 citations
Semantic Scholar
Elevated white blood cell count does not predict Clostridium difficile nucleic acid testing results.
D. Bosch, P. Mathias, Niklas Krumm, A. Bryan +2 more
2021Clinical Infectious Diseases4 citations
Semantic Scholar
Technical, Biological, and Systems Barriers for Molecular Clinical Decision Support.
Niklas Krumm, B. Shirts
2019Clinics in Laboratory Medicine3 citations
Semantic Scholar
Practical Cost Analysis of Genomic Data in the Cloud
Niklas Krumm, N. Hoffman
2019American Journal of Clinical Pathology1 citations
Semantic Scholar
Reproducible Amyloid Typing by Data-Independent Acquisition Mass Spectrometry.
A. Emmanuel, Kelly D. Smith, William Catungal, Erin Kuest +11 more
2026Clinical Chemistry0 citations
Semantic Scholar
An Updated “Call Database” to Support Lab Consultation and Quality Improvement Projects
Niklas Krumm, N. Hoffman
2019American Journal of Clinical Pathology0 citations
Semantic Scholar
A Probabilistic Model for PT/PTT Mixing Studies With Error Propagation
Niklas Krumm, D. Sabath
2018American Journal of Clinical Pathology0 citations Open access
Semantic Scholar
Title Allele-specific transcriptional elongation regulates monoallelicexpression of the IGF 2 BP 1 gene
Brandon J. Thomas, Eric D. Rubio, Niklas Krumm, P. Ó. Broin +5 more
20170 citations
Semantic Scholar
Genetic etiologies of Autism Spectrum Disorder
Niklas Krumm
20140 citations
Semantic Scholar

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