Genomic disorders: complexity at multiple levels

Por Girirajan, Santhosh
Publicado em 2013

Missing heritability and where to find it

Por Girirajan, Santhosh
Publicado no Genome Biol (2017)

Mapping a shared genetic basis for neurodevelopmental disorders

Por Jensen, Matthew, Girirajan, Santhosh
Publicado no Genome Med (2017)

An interaction-based model for neuropsychiatric features of copy-number variants

Por Jensen, Matthew, Girirajan, Santhosh
Publicado no PLoS Genet (2019)

Phenotypic variability and genetic susceptibility to genomic disorders

Por Girirajan, Santhosh, Eichler, Evan E.
Publicado em 2010

Molecular basis for phenotypic similarity of genetic disorders

Por Pounraja, Vijay Kumar, Girirajan, Santhosh
Publicado no Genome Med (2019)

UNCOVERING THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS: GENOMICS, BIOINFORMATICS, ENVIRONMENT, DATA COLLECTION AND EXPLORATION, AND FUTURE POSSIBILITIES

Por PENDERGRASS, SARAH, GIRIRAJAN, SANTHOSH, SELLECK, SCOTT
Publicado em 2014

Gene discoveries in autism are biased towards comorbidity with intellectual disability

Por Jensen, Matthew, Smolen, Corrine, Girirajan, Santhosh
Publicado no J Med Genet (2020)

Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

Por Queitsch, Christine, Carlson, Keisha D., Girirajan, Santhosh
Publicado em 2012

An assessment of sex bias in neurodevelopmental disorders

Por Polyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh
Publicado no Genome Med (2015)

The origins and impact of primate segmental duplications

Por Marques-Bonet, Tomas, Girirajan, Santhosh, Eichler, Evan E.
Publicado em 2009

A Genetic Model for Neurodevelopmental Disease

Por Coe, Bradley P., Girirajan, Santhosh, Eichler, Evan E.
Publicado em 2012

The Genetic Variability and Commonality of Neurodevelopmental Disease

Por COE, BRADLEY P., GIRIRAJAN, SANTHOSH, EICHLER, EVAN E.
Publicado em 2012

Improving the Power of Structural Variation Detection by Augmenting the Reference

Por Schröder, Jan, Girirajan, Santhosh, Papenfuss, Anthony T., Medvedev, Paul
Publicado no PLoS One (2015)

Human Copy Number Variation and Complex Genetic Disease

Por Girirajan, Santhosh, Campbell, Catarina D., Eichler, Evan E.
Publicado no Annu Rev Genet (2011)

Clinical utility gene card for: 16p12.2 microdeletion

Por Pizzo, Lucilla, Andrieux, Joris, Amor, David J, Girirajan, Santhosh
Publicado no Eur J Hum Genet (2017)

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity

Por Wang, Qingyu, Shashikant, Cooduvalli S., Jensen, Matthew, Altman, Naomi S., Girirajan, Santhosh
Publicado no Sci Rep (2017)

Genomic Architecture of Aggression: Rare Copy Number Variants in Intermittent Explosive Disorder

Por Vu, Tiffany H, Coccaro, Emil F, Eichler, Evan E, Girirajan, Santhosh
Publicado em 2011

A novel copy number variants kernel association test with application to autism spectrum disorders studies

Por Zhan, Xiang, Girirajan, Santhosh, Zhao, Ni, Wu, Michael C., Ghosh, Debashis
Publicado no Bioinformatics (2016)

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Por Pounraja, Vijay Kumar, Jayakar, Gopal, Jensen, Matthew, Kelkar, Neil, Girirajan, Santhosh
Publicado no Genome Res (2019)