Brian J. O’Roak - Concepedia

Author

Brian J. O’Roak

Also Known As

B J O'Roak, B O'Roak, B. J. O'Roak, Brian J O'Roak, Brian J O’Roak, Brian J. O'Roak, Brian J. O’Roak, Brian O'Roak, Brian O’Roak, Brian j. O’Roak

Publications

28.7K

Citations

H-Index

Concepts

All Affiliations

University of Washington Oregon Health & Science University Howard Hughes Medical Institute Yale University Baylor College of Medicine

About

Brian J. O’Roak is an author at University of Washington specializing in medicine, genetics, and autism.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	31	21.3K
2	Public Health	8	9	7.2K
3	Natural Sciences	4	4	2.8K
4	Education	1	1	101
5	Engineering	1	1	108

Brian J. O’Roak

Publications

26.5K

Citations

H-Index

Page 1

	Year	Citations
A general framework for estimating the relative pathogenicity of human genetic variants Martin Kircher, Daniela Witten, Preti Jain, Nature Genetics Relative PathogenicityGeneticsGenetic EpidemiologyGenomicsGenome-wide Association Study	2014	6.4K
The contribution of de novo coding mutations to autism spectrum disorder Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, Nature Neurodevelopmental DisordersSpectrum DisorderSyndromic AutismGenetic DisorderGenetics	2014	2.7K
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Nature BioinformaticsSporadic Autism ExomesSyndromic AutismMedicineGenetics	2012	2.2K
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Neuron Neurodevelopmental DisordersWilliams Syndrome RegionSyndromic AutismGenetic DisorderGenetics	2011	1.3K
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders Brian J. O’Roak, Laura Vives, Wenqing Fu, Science	2012	1.3K
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, Nature Genetics Neurodevelopmental DisordersGenetic DisorderExome SequencingGeneticsAutism	2011	1.2K
Sequence Variants in <i>SLITRK1</i> Are Associated with Tourette's Syndrome Jesse F. Abelson, Kenneth Y. Kwan, Brian J. O’Roak, Science GeneticsMolecular GeneticsSynaptic SignalingEpigeneticsSocial Sciences	2005	943
Rare independent mutations in renal salt handling genes contribute to blood pressure variation Weizhen Ji, Jia Nee Foo, Brian J. O’Roak, Nature Genetics BiologyAllelic VariantRenal SaltGenetic DisorderGenetics	2008	805
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development Raphael Bernier, Christelle Golzio, Bo Xiong, Cell Neurodevelopmental DisordersDevelopmental BiologyAutism EarlySyndromic AutismGenetics	2014	788
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	2012	737

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