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Niklas Krumm | Researchclopedia

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Niklas Krumm

Public Knowledge

42

Works

11,079

Citations

22

h-index

23

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Autism Spectrum Disorder Research

Affiliations

Broad Institute2024–2024

Howard Hughes Medical Institute2019–2019

Johns Hopkins University2019–2019

University of Miami2013–2013

University of Washington2011–2024

Top Works

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov,Brian J. O’Roak,et al.

20142,754 citations

Cancer Genomics and Diagnostics

Genetics and Neurodevelopmental Disorders

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak,Laura Vives,et al.

20122,212 citations

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak,Laura Vives,et al.

20121,283 citations

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm,Peter H. Sudmant,et al.

2012668 citations

Genomic data in the All of Us Research Program

Manuscript Writing Group,Alexander G. Bick,et al.

2024657 citations

Excess of rare, inherited truncating mutations in autism

Niklas Krumm,Tychele N. Turner,et al.

2015629 citations

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Sébastien Jacquemont,Bradley P. Coe,et al.

2014609 citations

A de novo convergence of autism genetics and molecular neuroscience

Niklas Krumm,Brian J. O’Roak,et al.

2014436 citations

Global diversity, population stratification, and selection of human copy-number variation

Peter H. Sudmant,Swapan Mallick,et al.

2015375 citations