Publications by authors named "Santhosh Girirajan"

75Publications

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.

PLoS Genet 2020 06 24;16(6):e1008792. Epub 2020 Jun 24.

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, United States of America.

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June 2020

Gene discoveries in autism are biased towards comorbidity with intellectual disability.

J Med Genet 2020 Sep 9;57(9):647-652. Epub 2020 Mar 9.

Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA

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September 2020

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

Genome Res 2019 07 6;29(7):1134-1143. Epub 2019 Jun 6.

Bioinformatics and Genomics Graduate Program of the Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, Pennsylvania 16802, USA.

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July 2019

Molecular basis for phenotypic similarity of genetic disorders.

Genome Med 2019 04 23;11(1):24. Epub 2019 Apr 23.

Bioinformatics and Genomics Program, The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.

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April 2019

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

PLoS Genet 2019 01 17;15(1):e1007879. Epub 2019 Jan 17.

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, United States of America.

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January 2019

Mapping a shared genetic basis for neurodevelopmental disorders.

Genome Med 2017 12 14;9(1):109. Epub 2017 Dec 14.

Bioinformatics and Genomics Graduate Program, The Huck Institutes of Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.

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December 2017

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Apr 28;61(4):209-212. Epub 2017 Nov 28.

MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address:

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April 2018

Missing heritability and where to find it.

Genome Biol 2017 05 11;18(1):89. Epub 2017 May 11.

Department of Biochemistry and Molecular Biology, 205A Huck Life Sciences Building, Pennsylvania State University, University Park, PA, 16802, USA.

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May 2017

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

Sci Rep 2017 04 13;7(1):885. Epub 2017 Apr 13.

Bioinformatics and Genomics Program, The Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA, 16802, USA.

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April 2017

Clinical utility gene card for: 16p12.2 microdeletion.

Eur J Hum Genet 2017 02 16;25(2). Epub 2016 Nov 16.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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February 2017

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

Bioinformatics 2016 12 6;32(23):3603-3610. Epub 2016 Aug 6.

Department of Biostatistics and Informatics, University of Colorado, Aurora, CO 80045, USA.

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December 2016

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.

G3 (Bethesda) 2016 05 3;6(5):1427-37. Epub 2016 May 3.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, Pennsylvania 16802 Bioinformatics and Genomics Program, The Huck Institutes of of Life Sciences, The Pennsylvania State University, University Park, Pennsylvania 16802 Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania 16802

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May 2016

Phenobarbital use and neurological problems in FMR1 premutation carriers.

Neurotoxicology 2016 Mar 21;53:141-147. Epub 2016 Jan 21.

MIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.

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March 2016

A need for precision medicine to enable tailored special education.

Am J Med Genet B Neuropsychiatr Genet 2016 Mar 27;171B(2):300. Epub 2015 Nov 27.

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania.

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March 2016

Improving the Power of Structural Variation Detection by Augmenting the Reference.

PLoS One 2015 31;10(8):e0136771. Epub 2015 Aug 31.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, United States of America; Genomic Sciences Institute of the Huck, The Pennsylvania State University, State College, United States of America; Department of Computer Science and Engineering, The Pennsylvania State University, State College, United States of America.

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June 2016

An assessment of sex bias in neurodevelopmental disorders.

Genome Med 2015 Aug 27;7:94. Epub 2015 Aug 27.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, 16802, USA.

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August 2015

Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis.

Am J Med Genet B Neuropsychiatr Genet 2015 Oct 22;168(7):600-8. Epub 2015 Jul 22.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, 16802.

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October 2015

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

JAMA Neurol 2015 Aug;72(8):920-7

Department of Neurology, University of Washington, Seattle5Department of Medicine (Medical Genetics), University of Washington, Seattle9Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington.

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August 2015

Epigenetics of autism-related impairment: copy number variation and maternal infection.

J Dev Behav Pediatr 2015 Feb-Mar;36(2):61-7

*University of Washington School of Medicine, Seattle, WA; Departments of †Psychiatry, and ‡Genome Sciences, University of Washington, Seattle, WA; §Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA; ‖Howard Hughes Medical Institute, University of Washington, Seattle, WA.

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March 2016

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.

Biol Open 2014 Apr 4;3(5):342-52. Epub 2014 Apr 4.

Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA Molecular Biology and Genetics Program, Virginia Commonwealth University, Richmond, VA 23298, USA

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April 2014

Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities.

Pac Symp Biocomput 2014 :422-6

Center for Systems Genomics, Department of Biochemistry & Molecular Biology, The Pennsylvania State University, University Park, PA, 16802, USA.

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August 2014

Genomic disorders: complexity at multiple levels.

Genome Med 2013 29;5(5):43. Epub 2013 May 29.

Department of Biochemistry and Molecular Biology, Department of Anthropology, 205A Huck Life Sciences Building, Pennsylvania State University, University Park, PA 16802, USA.

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August 2014

Rare copy number variation in cerebral palsy.

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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January 2014

Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.

PLoS Genet 2012 15;8(11):e1003041. Epub 2012 Nov 15.

Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.

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May 2013

A genetic model for neurodevelopmental disease.

Curr Opin Neurobiol 2012 Oct 2;22(5):829-36. Epub 2012 May 2.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, United States.

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October 2012

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

Am J Med Genet A 2012 Jun 23;158A(6):1279-84. Epub 2012 Apr 23.

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

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June 2012

The genetic variability and commonality of neurodevelopmental disease.

Am J Med Genet C Semin Med Genet 2012 May 12;160C(2):118-29. Epub 2012 Apr 12.

Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA, USA.

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May 2012

De novo CNVs in bipolar disorder: recurrent themes or new directions?

Neuron 2011 Dec;72(6):885-7

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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December 2011

Human copy number variation and complex genetic disease.

Annu Rev Genet 2011 19;45:203-26. Epub 2011 Aug 19.

Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.

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February 2012

Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder.

Am J Med Genet B Neuropsychiatr Genet 2011 Dec 2;156B(7):808-16. Epub 2011 Aug 2.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA.

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December 2011

Phenotypic variability and genetic susceptibility to genomic disorders.

Hum Mol Genet 2010 Oct 31;19(R2):R176-87. Epub 2010 Aug 31.

Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195, USA.

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October 2010

The origins and impact of primate segmental duplications.

Trends Genet 2009 Oct 30;25(10):443-54. Epub 2009 Sep 30.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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October 2009

Parental-age effects in Down syndrome.

J Genet 2009 Apr;88(1):1-7

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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April 2009

Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.

Mamm Genome 2009 Apr 25;20(4):247-55. Epub 2009 Mar 25.

Departments of Pediatrics and Human and Molecular Genetics, Virginia Commonwealth University, Medical College of Virginia Campus, Richmond, VA 23298, USA.

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April 2009

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.

Eur J Med Genet 2009 Jul-Aug;52(4):224-8. Epub 2008 Dec 24.

Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA.

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November 2009

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.

Genome Res 2009 Feb 24;19(2):178-90. Epub 2008 Nov 24.

Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington 98195, USA.

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February 2009

Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.

Mamm Genome 2008 Apr 15;19(4):246-62. Epub 2008 Mar 15.

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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April 2008

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Eur J Hum Genet 2008 Aug 20;16(8):941-54. Epub 2008 Feb 20.

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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August 2008

Smith-Magenis syndrome.

Eur J Hum Genet 2008 Apr 30;16(4):412-21. Epub 2008 Jan 30.

Department of Pediatrics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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April 2008

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Am J Med Genet A 2007 May;143A(9):999-1008

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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May 2007

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

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November 2006

Brachydactyly A1: new relatives for old families?

J Genet 2005 Aug;84(2):95-8

Department of Human Genetics, P. O. Box #980441, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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August 2005