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Author Details

Santhosh Girirajan
The Huck Institutes of Life Sciences, University Park, Pennsylvania State University
2003
96
39
PMIDPaper TitleJournal TitlePublished Year
37949722Strategies for dissecting the complexity of neurodevelopmental disorders.Trends Genet2024
36493769Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.Am J Hum Genet2023
37979581Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.Am J Hum Genet2023
37292616Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.medRxiv2023
37130797Challenges and considerations for reproducibility of STARR-seq assays.Genome Res2023
36587271Pathogenic Variants and Ascertainment: Neuropsychiatric Disease Risk in a Health System Cohort.Am J Psychiatry2023
35301265A general framework for identifying oligogenic combinations of rare variants in complex disorders.Genome Res2022
3540169716p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in <i>Xenopus laevis</i>.Front Genet2022
36070701Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster.Cell Rep2022
35931018The gene dose makes the disease.Cell2022
34099044Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.Genome Med2021
33597246The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleep.Sci Adv2021
33819264Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.PLoS Genet2021
33812298Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.Curr Opin Genet Dev2021
33666332Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.Am J Med Genet A2021
34777335Macrophage Selenoproteins Restrict Intracellular Replication of <i>Francisella tularensis</i> and Are Essential for Host Immunity.Front Immunol2021
34657631Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.Genome Med2021
32152248Gene discoveries in autism are biased towards comorbidity with intellectual disability.J Med Genet2020
32053595NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.PLoS Genet2020
32778141An evolutionary driver of interspersed segmental duplications in primates.Genome Biol2020
30653500An interaction-based model for neuropsychiatric features of copy-number variants.PLoS Genet2019
31653223Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.Genome Med2019
30190612Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.Genet Med2019
31014384Molecular basis for phenotypic similarity of genetic disorders.Genome Med2019
31171634A machine-learning approach for accurate detection of copy number variants from exome sequencing.Genome Res2019
29191496A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.Eur J Med Genet2018
29959322Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.Nat Commun2018
27759917Implication of LRRC4C and DPP6 in neurodevelopmental disorders.Am J Med Genet A2017
28408746Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Sci Rep2017
28494787Missing heritability and where to find it.Genome Biol2017
28448694The joint effect of air pollution exposure and copy number variation on risk for autism.Autism Res2017
29241461Mapping a shared genetic basis for neurodevelopmental disorders.Genome Med2017
27848943Clinical utility gene card for: 16p12.2 microdeletion.Eur J Hum Genet2017
27058611De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS Genet2016
26614380A need for precision medicine to enable tailored special education.Am J Med Genet B Neuropsychiatr Genet2016
27497442A novel copy number variants kernel association test with application to autism spectrum disorders studies.Bioinformatics2016
27153221Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.PLoS Genet2016
26994292Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.G3 (Bethesda)2016
26802682Phenobarbital use and neurological problems in FMR1 premutation carriers.Neurotoxicology2016
25629966Epigenetics of autism-related impairment: copy number variation and maternal infection.J Dev Behav Pediatr2015
26322511Improving the Power of Structural Variation Detection by Augmenting the Reference.PLoS One2015
26307204An assessment of sex bias in neurodevelopmental disorders.Genome Med2015
26076170R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.JAMA Neurol2015
26198689Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis.Am J Med Genet B Neuropsychiatr Genet2015
25971441Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Brief Funct Genomics2015
23695280Rare copy number variation in cerebral palsy.Eur J Hum Genet2014
24705017Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.Biol Open2014
24297568Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities.Pac Symp Biocomput2014
23375656Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.Am J Hum Genet2013
23731576Genomic disorders: complexity at multiple levels.Genome Med2013
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