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Santhosh Girirajan, M.B.B.S., Ph.D. - Publications

Affiliations: 
2012- Biochemistry and Molecular Biology Pennsylvania State University, State College, PA, United States 
Area:
Copy number variants, neurodevelopmental disorders
Website:
https://autism.bx.psu.edu/
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Year Citation  Score
2023 Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, ... ... Girirajan S, et al. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. American Journal of Human Genetics. PMID 37979581 DOI: 10.1016/j.ajhg.2023.10.015  0.302
2022 Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, et al. Genome-wide analysis of copy number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes. American Journal of Human Genetics. PMID 36493769 DOI: 10.1016/j.ajhg.2022.11.012  0.441
2022 Mhatre SD, Iyer J, Petereit J, Dolling-Boreham RM, Tyryshkina A, Paul AM, Gilbert R, Jensen M, Woolsey RJ, Anand S, Sowa MB, Quilici DR, Costes SV, Girirajan S, Bhattacharya S. Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster. Cell Reports. 40: 111279. PMID 36070701 DOI: 10.1016/j.celrep.2022.111279  0.51
2022 Lasser M, Bolduc J, Murphy L, O'Brien C, Lee S, Girirajan S, Lowery LA. 16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in . Frontiers in Genetics. 13: 833083. PMID 35401697 DOI: 10.3389/fgene.2022.833083  0.346
2022 Pounraja VK, Girirajan S. A general framework for identifying oligogenic combinations of rare variants in complex disorders. Genome Research. 32: 904-915. PMID 35301265 DOI: 10.1101/gr.276348.121  0.377
2021 Jensen M, Tyryshkina A, Pizzo L, Smolen C, Das M, Huber E, Krishnan A, Girirajan S. Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Genome Medicine. 13: 163. PMID 34657631 DOI: 10.1186/s13073-021-00982-z  0.338
2021 Das M, Girirajan S. Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms. Genome Medicine. 13: 99. PMID 34099044 DOI: 10.1186/s13073-021-00913-y  0.347
2021 Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I, Karthikeyan S, Gould DJ, Yennawar S, Weiner AT, Pounraja VK, ... ... Girirajan S, et al. Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. Plos Genetics. 17: e1009112. PMID 33819264 DOI: 10.1371/journal.pgen.1009112  0.807
2021 Yusuff T, Kellaris G, Girirajan S, Katsanis N. Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. Current Opinion in Genetics & Development. 68: 79-87. PMID 33812298 DOI: 10.1016/j.gde.2021.02.013  0.398
2020 Cantsilieris S, Sunkin SM, Johnson ME, Anaclerio F, Huddleston J, Baker C, Dougherty ML, Underwood JG, Sulovari A, Hsieh P, Mao Y, Catacchio CR, Malig M, Welch AE, Sorensen M, ... ... Girirajan S, et al. An evolutionary driver of interspersed segmental duplications in primates. Genome Biology. 21: 202. PMID 32778141 DOI: 10.1186/S13059-020-02074-4  0.73
2020 Yusuff T, Jensen M, Yennawar S, Pizzo L, Karthikeyan S, Gould DJ, Sarker A, Gedvilaite E, Matsui Y, Iyer J, Lai ZC, Girirajan S. Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. Plos Genetics. 16: e1008792. PMID 32579612 DOI: 10.1371/Journal.Pgen.1008792  0.602
2020 Jensen M, Smolen C, Girirajan S. Gene discoveries in autism are biased towards comorbidity with intellectual disability. Journal of Medical Genetics. PMID 32152248 DOI: 10.1136/Jmedgenet-2019-106476  0.455
2020 Singh MD, Jensen M, Lasser M, Huber E, Yusuff T, Pizzo L, Lifschutz B, Desai I, Kubina A, Yennawar S, Kim S, Iyer J, Rincon-Limas DE, Lowery LA, Girirajan S. NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models. Plos Genetics. 16: e1008590. PMID 32053595 DOI: 10.1371/Journal.Pgen.1008590  0.795
2020 Yusuff T, Jensen M, Yennawar S, Pizzo L, Karthikeyan S, Gould DJ, Sarker A, Gedvilaite E, Matsui Y, Iyer J, Lai Z, Girirajan S. Phenotypic expression of CNV carriers across tissues. Plos Genetics. DOI: 10.1371/Journal.Pgen.1008792.S001  0.583
2019 Chow J, Jensen M, Amini H, Hormozdiari F, Penn O, Shifman S, Girirajan S, Hormozdiari F. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. Genome Medicine. 11: 65. PMID 31653223 DOI: 10.1186/S13073-019-0678-Y  0.759
2019 Pounraja VK, Jayakar G, Jensen M, Kelkar N, Girirajan S. A machine-learning approach for accurate detection of copy number variants from exome sequencing. Genome Research. 29: 1134-1143. PMID 31171634 DOI: 10.1101/Gr.245928.118  0.34
2019 Pounraja VK, Girirajan S. Molecular basis for phenotypic similarity of genetic disorders. Genome Medicine. 11: 24. PMID 31014384 DOI: 10.1186/S13073-019-0641-Y  0.498
2019 Jensen M, Girirajan S. An interaction-based model for neuropsychiatric features of copy-number variants. Plos Genetics. 15: e1007879. PMID 30653500 DOI: 10.1371/Journal.Pgen.1007879  0.469
2018 Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, ... ... Girirajan S, et al. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30190612 DOI: 10.1038/S41436-018-0266-3  0.446
2018 Iyer J, Singh MD, Jensen M, Patel P, Pizzo L, Huber E, Koerselman H, Weiner AT, Lepanto P, Vadodaria K, Kubina A, Wang Q, Talbert A, Yennawar S, Badano J, ... ... Girirajan S, et al. Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster. Nature Communications. 9: 2548. PMID 29959322 DOI: 10.1038/S41467-018-04882-6  0.807
2017 Jensen M, Girirajan S. Mapping a shared genetic basis for neurodevelopmental disorders. Genome Medicine. 9: 109. PMID 29241461 DOI: 10.1186/S13073-017-0503-4  0.413
2017 Jensen M, Kooy RF, Simon TJ, Reyniers E, Girirajan S, Tassone F. A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. European Journal of Medical Genetics. PMID 29191496 DOI: 10.1016/J.Ejmg.2017.11.016  0.498
2017 Girirajan S. Missing heritability and where to find it. Genome Biology. 18: 89. PMID 28494787 DOI: 10.1186/S13059-017-1227-X  0.345
2017 Kim D, Volk H, Girirajan S, Pendergrass S, Hall MA, Verma SS, Schmidt RJ, Hansen RL, Ghosh D, Ludena-Rodriguez Y, Kim K, Ritchie MD, Hertz-Picciotto I, Selleck SB. The joint effect of air pollution exposure and copy number variation on risk for autism. Autism Research : Official Journal of the International Society For Autism Research. PMID 28448694 DOI: 10.1002/Aur.1799  0.337
2017 Wang Q, Shashikant CS, Jensen M, Altman NS, Girirajan S. Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. Scientific Reports. 7: 885. PMID 28408746 DOI: 10.1038/S41598-017-01005-X  0.378
2016 Pizzo L, Andrieux J, Amor DJ, Girirajan S. Clinical utility gene card for: 16p12.2 microdeletion. European Journal of Human Genetics : Ejhg. PMID 27848943 DOI: 10.1038/Ejhg.2016.158  0.431
2016 Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, ... ... Girirajan S, et al. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. American Journal of Medical Genetics. Part A. PMID 27759917 DOI: 10.1002/Ajmg.A.38021  0.461
2016 Zhan X, Girirajan S, Zhao N, Wu MC, Ghosh D. A novel copy number variants kernel association test with application to autism spectrum disorders studies. Bioinformatics (Oxford, England). PMID 27497442 DOI: 10.1093/Bioinformatics/Btw500  0.436
2016 Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963  0.616
2016 Iyer J, Wang Q, Le T, Pizzo L, Grönke S, Ambegaokar S, Imai Y, Srivastava A, Llamusí Troisí B, Mardon G, Artero R, Jackson GR, Isaacs AM, Partridge L, Kumar JP, ... Girirajan S, et al. Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster. G3 (Bethesda, Md.). PMID 26994292 DOI: 10.1534/G3.116.027060  0.571
2016 Saldarriaga W, Lein P, González Teshima LY, Isaza C, Rosa L, Polyak A, Hagerman R, Girirajan S, Silva M, Tassone F. PHENOBARBITAL USE AND NEUROLOGICAL PROBLEMS IN FMR1 PREMUTATION CARRIERS. Neurotoxicology. PMID 26802682 DOI: 10.1016/J.Neuro.2016.01.008  0.329
2015 Schröder J, Girirajan S, Papenfuss AT, Medvedev P. Improving the Power of Structural Variation Detection by Augmenting the Reference. Plos One. 10: e0136771. PMID 26322511 DOI: 10.1371/Journal.Pone.0136771  0.35
2015 Polyak A, Rosenfeld JA, Girirajan S. An assessment of sex bias in neurodevelopmental disorders. Genome Medicine. 7: 94. PMID 26307204 DOI: 10.1186/S13073-015-0216-5  0.461
2015 Polyak A, Kubina RM, Girirajan S. Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 600-8. PMID 26198689 DOI: 10.1002/Ajmg.B.32338  0.38
2015 Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, et al. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study. Jama Neurology. PMID 26076170 DOI: 10.1001/Jamaneurol.2015.0979  0.376
2015 Iyer J, Girirajan S. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. Briefings in Functional Genomics. PMID 25971441 DOI: 10.1093/Bfgp/Elv018  0.691
2015 Mazina V, Gerdts J, Trinh S, Ankenman K, Ward T, Dennis MY, Girirajan S, Eichler EE, Bernier R. Epigenetics of autism-related impairment: copy number variation and maternal infection. Journal of Developmental and Behavioral Pediatrics : Jdbp. 36: 61-7. PMID 25629966 DOI: 10.1097/Dbp.0000000000000126  0.653
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. Biology Open. 3: 342-52. PMID 24705017 DOI: 10.1242/Bio.20147559  0.662
2014 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. European Journal of Human Genetics : Ejhg. 22: 40-5. PMID 23695280 DOI: 10.1038/Ejhg.2013.93  0.607
2014 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, et al. Corrigendum: A copy number variation morbidity map of developmental delay Nature Genetics. 46: 1040-1040. DOI: 10.1038/Ng0914-1040A  0.536
2013 Girirajan S. Genomic disorders: complexity at multiple levels. Genome Medicine. 5: 43. PMID 23731576 DOI: 10.1186/Gm447  0.351
2013 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. 70: 582-90. PMID 23553203 DOI: 10.1001/Jamapsychiatry.2013.1195  0.575
2013 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, et al. Global increases in both common and rare copy number load associated with autism. Human Molecular Genetics. 22: 2870-80. PMID 23535821 DOI: 10.1093/Hmg/Ddt136  0.57
2013 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. American Journal of Human Genetics. 92: 221-37. PMID 23375656 DOI: 10.1016/J.Ajhg.2012.12.016  0.825
2013 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, ... ... Girirajan S, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/J.Ajhg.2012.12.011  0.615
2013 Aradhya S, Cherry AM, Girirajan S. Counting Chromosomes to Exons: Advances in Copy Number Detection Current Genetic Medicine Reports. 1: 71-80. DOI: 10.1007/S40142-013-0013-7  0.431
2012 Queitsch C, Carlson KD, Girirajan S. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease. Plos Genetics. 8: e1003041. PMID 23166511 DOI: 10.1371/Journal.Pgen.1003041  0.422
2012 Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England Journal of Medicine. 367: 1321-31. PMID 22970919 DOI: 10.1056/Nejmoa1200395  0.722
2012 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 adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/Archneurol.2012.54  0.749
2012 Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, 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. 8: e1002713. PMID 22654670 DOI: 10.1371/Journal.Pgen.1002713  0.613
2012 Coe BP, Girirajan S, Eichler EE. A genetic model for neurodevelopmental disease. Current Opinion in Neurobiology. 22: 829-36. PMID 22560351 DOI: 10.1016/J.Conb.2012.04.007  0.687
2012 Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE, Portman MA. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. American Journal of Medical Genetics. Part A. 158: 1279-84. PMID 22529060 DOI: 10.1002/Ajmg.A.35315  0.597
2012 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. 160: 118-29. PMID 22499536 DOI: 10.1002/Ajmg.C.31327  0.729
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, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/Nature10989  0.796
2012 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 SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. American Journal of Human Genetics. 90: 502-10. PMID 22365152 DOI: 10.1016/J.Ajhg.2012.01.006  0.589
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, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 33: 728-40. PMID 22290657 DOI: 10.1002/Humu.22037  0.596
2012 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, et al. Evidence for involvement of GNB1L in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 61-71. PMID 22095694 DOI: 10.1002/Ajmg.B.32002  0.594
2012 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, et al. Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) Nature Genetics. 44: 471. DOI: 10.1038/Ng0412-471  0.809
2011 Girirajan S, Eichler EE. De novo CNVs in bipolar disorder: recurrent themes or new directions? Neuron. 72: 885-7. PMID 22196322 DOI: 10.1016/J.Neuron.2011.12.008  0.542
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, et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Plos Genetics. 7: e1002334. PMID 22102821 DOI: 10.1371/Journal.Pgen.1002334  0.704
2011 Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annual Review of Genetics. 45: 203-26. PMID 21854229 DOI: 10.1146/Annurev-Genet-102209-163544  0.698
2011 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, et al. A copy number variation morbidity map of developmental delay. Nature Genetics. 43: 838-46. PMID 21841781 DOI: 10.1038/Ng.909  0.76
2011 Vu TH, Coccaro EF, Eichler EE, Girirajan S. Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 808-16. PMID 21812102 DOI: 10.1002/Ajmg.B.31225  0.578
2011 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, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 43: 585-9. PMID 21572417 DOI: 10.1038/Ng.835  0.819
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. 2: 26-38. PMID 21731881 DOI: 10.1007/S11689-009-9037-4  0.554
2010 Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Human Molecular Genetics. 19: R176-87. PMID 20807775 DOI: 10.1093/Hmg/Ddq366  0.63
2010 Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, et al. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genetics. 42: 745-50. PMID 20729854 DOI: 10.1038/Ng.643  0.787
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: 4026-42. PMID 20663924 DOI: 10.1093/Hmg/Ddq317  0.67
2010 Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534  0.787
2010 Silengo M, Belligni E, Molinatto C, Baldassarre G, 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. PMID 20092588 DOI: 10.1111/J.1399-0004.2009.01347.X  0.549
2010 Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Array comparative genomic hybridisation 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: 223-9. PMID 19752160 DOI: 10.1136/Jmg.2009.068072  0.745
2009 Marques-Bonet T, Girirajan S, Eichler EE. The origins and impact of primate segmental duplications. Trends in Genetics : Tig. 25: 443-54. PMID 19796838 DOI: 10.1016/J.Tig.2009.08.002  0.683
2009 Girirajan S, Elsea SH. Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 20: 247-55. PMID 19319603 DOI: 10.1007/S00335-009-9180-Y  0.6
2009 Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clinical Genetics. 75: 364-74. PMID 19236431 DOI: 10.1111/J.1399-0004.2008.01135.X  0.624
2009 Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, et al. A burst of segmental duplications in the genome of the African great ape ancestor. Nature. 457: 877-81. PMID 19212409 DOI: 10.1038/Nature07744  0.81
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: 148-61. PMID 19166990 DOI: 10.1016/J.Ajhg.2008.12.014  0.801
2009 Girirajan S, Elsea SH. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. European Journal of Medical Genetics. 52: 224-8. PMID 19116176 DOI: 10.1016/J.Ejmg.2008.12.002  0.651
2009 Girirajan S, Chen L, Graves T, Marques-Bonet T, Ventura M, Fronick C, Fulton L, Rocchi M, Fulton RS, Wilson RK, Mardis ER, Eichler EE. Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. Genome Research. 19: 178-90. PMID 19029537 DOI: 10.1101/Gr.086041.108  0.674
2009 Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Nazareth LV, Muzny DM, Alkan C, Aksay G, Girirajan S, et al. A burst of segmental duplications in the genome of the African great ape ancestor Nature. 458: 238. DOI: 10.1038/nature07881  0.77
2008 Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, 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. PMID 18373405 DOI: 10.1089/Gte.2007.0058  0.796
2008 Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL, McCoy K, Elsea SH. Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 246-62. PMID 18343975 DOI: 10.1007/S00335-008-9100-6  0.756
2008 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 : Ejhg. 16: 941-54. PMID 18285828 DOI: 10.1038/Ejhg.2008.21  0.801
2008 Elsea SH, Girirajan S. Smith-Magenis syndrome. European Journal of Human Genetics : Ejhg. 16: 412-21. PMID 18231123 DOI: 10.1038/Sj.Ejhg.5202009  0.639
2007 Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clinical Genetics. 72: 47-58. PMID 17594399 DOI: 10.1111/J.1399-0004.2007.00831.X  0.665
2007 Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clinical Genetics. 71: 540-50. PMID 17539903 DOI: 10.1111/J.1399-0004.2007.00815.X  0.716
2007 Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, 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. Part A. 143: 999-1008. PMID 17431895 DOI: 10.1002/Ajmg.A.31689  0.811
2006 Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. American Journal of Medical Genetics. Part A. 140: 2454-63. PMID 17041942 DOI: 10.1002/Ajmg.A.31510  0.659
2006 Girirajan S, Vlangos CN, Szomju BB, 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 : Official Journal of the American College of Medical Genetics. 8: 417-27. PMID 16845274 DOI: 10.1097/01.Gim.0000228215.32110.89  0.816
2005 Girirajan S, Elsea SH. Brachydactyly A1: new relatives for old families? Journal of Genetics. 84: 95-8. PMID 16131709 DOI: 10.1007/Bf02715835  0.505
2005 Girirajan S, Elsas LJ, Devriendt K, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. Journal of Medical Genetics. 42: 820-8. PMID 15788730 DOI: 10.1136/Jmg.2005.031211  0.669
2003 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. PMID 12746422 DOI: 10.1136/Jmg.40.5.E68  0.385
Low-probability matches (unlikely to be authored by this person)
2023 Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, Khattabi LE, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, ... ... Girirajan S, et al. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants. Medrxiv : the Preprint Server For Health Sciences. PMID 37292616 DOI: 10.1101/2023.05.18.23290169  0.295
2022 Smolen C, Girirajan S. The gene dose makes the disease. Cell. 185: 2850-2852. PMID 35931018 DOI: 10.1016/j.cell.2022.07.005  0.293
2016 Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, ... ... Girirajan SD, et al. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. Plos Genetics. 12: e1005993. PMID 27153221 DOI: 10.1371/Journal.Pgen.1005993  0.28
2023 Sun J, Noss S, Banerjee D, Das M, Girirajan S. Strategies for dissecting the complexity of neurodevelopmental disorders. Trends in Genetics : Tig. PMID 37949722 DOI: 10.1016/j.tig.2023.10.009  0.257
2009 Girirajan S. Parental-age effects in Down syndrome. Journal of Genetics. 88: 1-7. PMID 19417538 DOI: 10.1007/S12041-009-0001-6  0.253
2014 Pendergrass S, Girirajan S, Selleck S. Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities. Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing. 422-6. PMID 24297568  0.246
2015 Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, et al. R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family clinical, genetic, and neuropathological study Jama Neurology. 72: 920-927.  0.228
2015 Polyak A, Girirajan S. A need for precision medicine to enable tailored special education. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26614380 DOI: 10.1002/Ajmg.B.32404  0.179
2014 Hertz-Picciotto* I, Ritchie M, Volk H, Girirajan S, Selleck S, Kim D, Pendergrass S. Gene-Environment Interactions in the Association between Air Pollution and Autism Isee Conference Abstracts. 2014: 2813. DOI: 10.1289/isee.2014.o-217  0.15
2023 Das M, Hossain A, Banerjee D, Praul CA, Girirajan S. Challenges and considerations for reproducibility of STARR-seq assays. Genome Research. 33: 479-495. PMID 37130797 DOI: 10.1101/gr.277204.122  0.148
2021 Finucane B, Savatt JM, Shimelis H, Girirajan S, Myers SM. Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax. American Journal of Medical Genetics. Part A. PMID 33666332 DOI: 10.1002/ajmg.a.62159  0.127
2023 Banerjee D, Girirajan S. Pathogenic Variants and Ascertainment: Neuropsychiatric Disease Risk in a Health System Cohort. The American Journal of Psychiatry. 180: 11-13. PMID 36587271 DOI: 10.1176/appi.ajp.20220934  0.12
2021 Gong NN, Dilley LC, Williams CE, Moscato EH, Szuperak M, Wang Q, Jensen M, Girirajan S, Tan TY, Deardorff MA, Li D, Song Y, Kayser MS. The chromatin remodeler ISWI acts during development to regulate adult sleep. Science Advances. 7. PMID 33597246 DOI: 10.1126/sciadv.abe2597  0.112
2021 Markley RL, Restori KH, Katkere B, Sumner SE, Nicol MJ, Tyryshkina A, Nettleford SK, Williamson DR, Place DE, Dewan KK, Shay AE, Carlson BA, Girirajan S, Prabhu KS, Kirimanjeswara GS. Macrophage Selenoproteins Restrict Intracellular Replication of and Are Essential for Host Immunity. Frontiers in Immunology. 12: 701341. PMID 34777335 DOI: 10.3389/fimmu.2021.701341  0.111
2017 Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, ... ... Girirajan S, et al. Cover Image, Volume 173A, Number 2, February 2017. American Journal of Medical Genetics. Part A. 173: i. PMID 28102589 DOI: 10.1002/ajmg.a.37896  0.07
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