Publications
2013 2012 2011 2010 2009 2008 2007 2003-2006 Reviews
2014
  • Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M. "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.
2013
  • McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. "Rare copy number variation in cerebral palsy." Eur J Hum Genet. 2014 Jan;22(1):40-5.
  • Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB. "Global increases in both common and rare copy number load associated with autism." Hum Mol Genet. 2013 Jul 15;22(14):2870-80.
  • Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW. "Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families." JAMA Psychiatry. 2013 Jun;70(6):582-90.
  • Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. "Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder." Am J Hum Genet. 2013 Feb 7;92(2):221-37.
  • Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. "Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus." Am J Hum Genet. 2013 Feb 7;92(2):210-20.
2012
  • Queitsch C, Carlson KS, and Girirajan S. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease. PLoS Genetics 2012 Nov;8(11):e1003041.
  • Girirajan S*, Rosenfeld JA*, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati M, Asamoah A, Jackson KE, Gowans GC, Martin JA, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. The phenotypic heterogeneity of genomic disorders and multiple, rare CNVs.  New England Journal of Medicine, September 2012. *contributed equally
  • Melanie L, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea SH, Walz K, Chan L, Lupski JR, Gu W. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genetics May 24. 2012.
  • O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, and Eichler EE. Exome sequencing in sporadic autism reveals a highly interconnected protein network and extreme locus heterogeneity. Nature, Apr 4;485(7397):246-50.
  • Veeramah KR, O’Brien JE, Meisler MH, Cheng X, Dib-hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic mutation of SCN8A identified by whole genome sequencing of a family quartet with infantile epileptic encephalopathy and SUDEP. American Journal of Human Genetics, 90:1–9, 2012.
  • Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 2012 Apr;33(4):728-40.
  • Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H,Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in Adenylate Cyclase 5. Archives of Neurology, 2012 May 1;69(5):630-5.
  • Priest JR, Girirajan S, Olson A, Vu TH, Eichler EE, Portman MA. Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects. American Journal of Medical Genetics, Jun; 158A(6):1279-84.
2011
  • Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genetics Nov 7. 2011.
  • Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet Nov 16, 2011.
  • Vu T, Coccaro E, Eichler EE, Girirajan S†. Genomic architecture of aggression: Rare CNVs in intermittent explosive disorder. Am J Med Genet B Neuropsychiatr Genet Aug 2. 2011. †corresponding author
  • Cooper GM*, Coe BP*, Girirajan S*, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. A copy number variation morbidity map of developmental delay. Nature Genetics Aug 14. 2011. *contributed equally
  • O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, MacKenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Exome sequencing in sporadic autism reveals severe de novo mutations. Nature Genetics Jun;43(6):585-9, 2011.
2010
  • Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity, and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Human Molecular Genetics 19:4026–4042, 2010.
  • Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, [10 authors], Wilson RK, Shaffer LG, Schwartz D, Eichler EE. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genetics 42:745–750, 2010.
  • Girirajan S*, Rosenfeld JA*, Cooper GM, [53 authors], King M-C, Shaffer LG, Eichler EE. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics 42:203–209, 2010. *contributed equally
  • Silengo M, Belligni E, Molinatto C, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Eyebrow anomalies as a diagnostic sign of genomic disorders. Clinical Genetics 77:28–31, 2010.
  • Williams SR, Girirajan S, Tegay D, Nowak NJ, Hatchwell E, Elsea SH. Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay. Journal of Medical Genetics 47:223–229, 2010.
  • Rosenfeld JA*, Coppinger J*, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. Journal of Neurodevelopmental Disorders 1:26–38, 2010. *contributed equally
2009
  • Girirajan S, Elsea SH. Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mammalian Genome 20:247–255, 2009.
  • Marques-Bonet T, Kidd JM, [10 Authors], Girirajan S, Siswara P, Chen L, Cardone MF, Navarro A, Mardis ER, Wilson RK, Eichler EE. A burst of segmental duplications in the genome of the African great ape ancestor. Nature 457:877–881, 2009.
  • Itsara A*, Cooper GM*, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics 84:148–161, 2009. *contributed equally
  • Girirajan S, Elsea, SH. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. European Journal of Medical Genetics 52:224–228, 2009.
  • Girirajan S*, Chen L*, Graves T, Marques-Bonet T, Ventura M, Fronick C, Fulton L, Rocchi M, Fulton R, Wilson RK, Mardis ER, Eichler EE. Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. Genome Research 19:178–190, 2009. *contributed equally
  • Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clinical Genetics 75: 364–374, 2009.
2008
  • Girirajan S*, Hauck PM*, Williams SR, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, McCoy KL, White KL, Elsea SH. Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunological response. Mammalian Genome 19:246–262, 2008. *contributed equally.
  • Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH. How much is too much? Phenotypic consequences of Rai1 overexpression in mice. European Journal of Human Genetics 16:941–954, 2008.
  • Truong HT, Kohal SS, Baker KR, Girirajan S, Williams SR, Vlangos CN, Bunyan DJ, Smith ACM, Blanchard CL, Elsea SH. Diagnosing Smith-Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-time PCR. Genetic Testing 12:67–73, 2008.
2007
  • Girirajan S, Williams SR, Garbern JY, Hatchwell E, Elsea SH. 17p11.2 triplication and del(17)(q11.2q12) in a severely affected child with dup(17)(p11.2p12) syndrome. Clinical Genetics 72:47–58, 2007.
  • Edelman E, Girirajan S, Patel PI, Lupski JR, Finucane B, Smith ACM, Elsea SH. Gender, Phenotype and Genotype differences in Smith-Magenis syndrome – a meta-analysis of 105 cases. Clinical Genetics 71:540–550, 2007.
  • Girirajan S, Mendoza-Londono R, Vlangos CN, Bunyan DJ, Hatchwell E, Elsea SH. Smith-Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1). American Journal of Medical Genetics 143: 999–1008, 2007.
2003-2006
  • Bi W, Saifi GM, Girirajan S, Szomju B, Firth H, Magenis RE, Elsea SH, Lupski JR. Potential RAI1 point mutation hotspot and RAI1 polymorphisms in nondeletion Smith-Magenis syndrome. American Journal of Medical Genetics 140:2454–2463, 2006.
  • Girirajan S, Vlangos CN, Szomju B, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genetics in Medicine 8:417–427, 2006.
  • Girirajan S, Elsas II LJ, Devriendt KH, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. Journal of Medical Genetics 42:820–828, 2005.
  • Ramshankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, Avraham KB, Anand A. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. Journal of Medical Genetics 40:e68, 2003.
Review Articles
  • Girirajan S. Genomic disorders: complexity at multiple levels (Meeting report on the 7th Wellcome Trust Genomic Disorders conference). Genome Medicine, 2013, May 29;5(5)43.
  • Aradhya S, Cherry AM, Girirajan S. Counting chromosomes to exons: Advances in copy number detection. Current Genetic Medicine Reports, 2013, Published Online.
  • Queitsch C, Carlson KS, and Girirajan S. Lessons from model organisms: Phenotypic robustness and missing heritability in complex disease. PLOS Genetics, 2012, Nov;8(11): e1003041.
  • Coe BP, Girirajan S, Eichler EE. A genetic model for neurodevelopmental disease. Current Opinion in Neurobiology, 2012. Oct;22(5):829-836. PubMed PMID: 22560351.
  • Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2012, May 15;160C(2):118-129. PubMed PMID: 22499536.
  • Girirajan S, Eichler EE. De novo CNVs in bipolar disorder: Recurrent themes or new directions? Neuron, 2011, Dec 22;72(6):885-887. PubMed PMID: 22196322.
  • Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annual Reviews of Genetics, 2011, Feb 7;92(2):221-237. PubMed PMID: 21854229.
  • Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Human Molecular Genetics, 2010, Oct 15;19(R2):R176-187. PubMed PMID: 20807775.
  • Marques-Bonet T, Girirajan S, Eichler EE. The origins and impact of primate segmental duplications. Trends in Genetics, 2010, Oct;25:443-454. PubMed PMID: 19796838.
  • Girirajan S. Parental-age effects in Down syndrome. Journal of Genetics, 2009, Apr;88(1):1-7. PubMed PMID: 19417538.
  • Elsea SH, Girirajan S. Smith-Magenis syndrome. European Journal of Human Genetics, 2008, Apr;16(4):412-421. PubMed PMID: 18231123.
  • Girirajan S, Elsea SH. Brachydactyly A1: New relatives for old families? Journal of Genetics, 2005, Aug;84(2):95-98. PubMed PMID: 16131709.
  • Elsea SH, Girirajan S. ‘Smith-Magenis syndrome’ in Encyclopedia of Molecular Mechanisms of Disease, Ed. F. Lang, Springer-Verlag, Heidelberg, 2008.
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