Shrikant Mane

Research interests

Publications

• Neuroinvasion of SARS-CoV-2 in human and mouse brain

  The Journal of Experimental Medicine · 2020 · https://doi.org/10.1084/jem.20202135

• Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

  Nature Genetics · 2017 · https://doi.org/10.1038/ng.3970

• The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.06.009

• De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

  Science · 2015 · https://doi.org/10.1126/science.aac9396

• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

  Neuron · 2015 · https://doi.org/10.1016/j.neuron.2015.09.016

• The contribution of de novo coding mutations to autism spectrum disorder

  Nature · 2014 · https://doi.org/10.1038/nature13908

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2590

• De novo mutations in histone-modifying genes in congenital heart disease

  Nature · 2013 · 10.1038/nature12141

• Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

  Cell · 2013 · https://doi.org/10.1016/j.cell.2013.10.020

• Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO

  Science · 2013 · https://doi.org/10.1126/science.1233009

• Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2695

• Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2359

• Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

  Nature · 2012 · https://doi.org/10.1038/nature10814

• De novo mutations revealed by whole-exome sequencing are strongly associated with autism

  Nature · 2012 · https://doi.org/10.1038/nature10945

• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

  Neuron · 2011 · https://doi.org/10.1016/j.neuron.2011.05.002

• K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

  Science · 2011 · https://doi.org/10.1126/science.1198785

• Genome-wide association study identifies susceptibility loci for IgA nephropathy

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.787

• Spatio-temporal transcriptome of the human brain

  Nature · 2011 · https://doi.org/10.1038/nature10523

• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

  Nature · 2010 · https://doi.org/10.1038/nature09327

• A Novel miRNA Processing Pathway Independent of Dicer Requires Argonaute2 Catalytic Activity

  Science · 2010 · https://doi.org/10.1126/science.1190809

• Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

  Neuron · 2009 · https://doi.org/10.1016/j.neuron.2009.03.027

• Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

  Proceedings of the National Academy of Sciences · 2009 · https://doi.org/10.1073/pnas.0910672106

• RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays

  Genome Research · 2008 · https://doi.org/10.1101/gr.079558.108

• LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

  Science · 2007 · https://doi.org/10.1126/science.1136370

• Complement Factor H Polymorphism in Age-Related Macular Degeneration

  Science · 2005 · https://doi.org/10.1126/science.1109557

Current projects

No projects listed.