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/

67 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.56
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  0.56
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  0.32
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  1
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  1
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.  1
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  0.84
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  1
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  1
2013 Girirajan S. Genomic disorders: complexity at multiple levels. Genome Medicine. 5: 43. PMID 23731576 DOI: 10.1186/gm447  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  0.84
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2009 Girirajan S. Parental-age effects in Down syndrome. Journal of Genetics. 88: 1-7. PMID 19417538 DOI: 10.1007/s12041-009-0001-6  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2005 Girirajan S, Elsea SH. Brachydactyly A1: new relatives for old families? Journal of Genetics. 84: 95-8. PMID 16131709  1
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  1
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  1
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