Genomic disorders: complexity at multiple levels

por Girirajan, Santhosh
Publicado 2013

Missing heritability and where to find it

por Girirajan, Santhosh
Publicado 2017

Mapping a shared genetic basis for neurodevelopmental disorders

por Jensen, Matthew, Girirajan, Santhosh
Publicado 2017

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

por Jensen, Matthew, Girirajan, Santhosh
Publicado 2019

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

por Das, Maitreya, Girirajan, Santhosh
Publicado 2021

Molecular basis for phenotypic similarity of genetic disorders

por Pounraja, Vijay Kumar, Girirajan, Santhosh
Publicado 2019

A general framework for identifying oligogenic combinations of rare variants in complex disorders

por Pounraja, Vijay Kumar, Girirajan, Santhosh
Publicado 2022

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

por Queitsch, Christine, Carlson, Keisha D., Girirajan, Santhosh
Publicado 2012

An assessment of sex bias in neurodevelopmental disorders

por Polyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh
Publicado 2015

Improving the Power of Structural Variation Detection by Augmenting the Reference

por Schröder, Jan, Girirajan, Santhosh, Papenfuss, Anthony T., Medvedev, Paul
Publicado 2015

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 2017

Challenges and considerations for reproducibility of STARR-seq assays

por Das, Maitreya, Hossain, Ayaan, Banerjee, Deepro, Praul, Craig Alan, Girirajan, Santhosh
Publicado 2023

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 2011

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 2019

Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects

por Priest, James R, Girirajan, Santhosh, Vu, Tiffany H, Olson, Aaron, Eichler, Evan E, Portman, Michael A
Publicado 2012

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

por Chow, Julie, Jensen, Matthew, Amini, Hajar, Hormozdiari, Farhad, Penn, Osnat, Shifman, Sagiv, Girirajan, Santhosh, Hormozdiari, Fereydoun
Publicado 2019

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

por Jensen, Matthew, Tyryshkina, Anastasia, Pizzo, Lucilla, Smolen, Corrine, Das, Maitreya, Huber, Emily, Krishnan, Arjun, Girirajan, Santhosh
Publicado 2021

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis

por Lasser, Micaela, Bolduc, Jessica, Murphy, Luke, O'Brien, Caroline, Lee, Sangmook, Girirajan, Santhosh, Lowery, Laura Anne
Publicado 2022

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

por Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Publicado 2009

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

por Lacaria, Melanie, Saha, Pradip, Potocki, Lorraine, Bi, Weimin, Yan, Jiong, Girirajan, Santhosh, Burns, Brooke, Elsea, Sarah, Walz, Katherina, Chan, Lawrence, Lupski, James R., Gu, Wenli
Publicado 2012