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Kimonis, Virginia E.

TitleProfessor
InstitutionUniversity of California, Irvine
DepartmentPediatrics
Address1001 Health Sciences Road
CA 92697-3950
Phone(714) 456-5791
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    Collapse Research 
    Collapse Research Activities and Funding
    Translational Studies of Lipidomics-Associated Signaling Pathways in VCP Disease
    NIH/NIAMS R56AR066970Sep 30, 2014 - Aug 31, 2015
    Role: Principal Investigator
    High-fat diet rescues lethality of homozygous knock-in R155H VCP myopathic mice
    NIH/NIAMS R21AR063360Aug 1, 2012 - Jul 31, 2014
    Role: Principal Investigator
    Genetic basis of myopathy with Paget disease of bone
    NIH/NIAMS R01AR050236Aug 15, 2004 - Aug 31, 2009
    Role: Principal Investigator
    Characterization of Familial Myopathy &Paget Disease
    NIH/NIAMS R03AR050161Jul 15, 2003 - Jun 30, 2006
    Role: Principal Investigator
    Translational Studies in VCP Inclusion Body Myopathy with Paget Disease of Bone
    NIH/NIAMS R56AR050236Jul 1, 2003 - Aug 31, 2011
    Role: Principal Investigator
    Clinical &Molecular Analysis of Neuromuscular Disorders
    NIH/NINDS K02NS002157Jun 25, 2001 - Mar 31, 2002
    Role: Principal Investigator
    GENE CAUSING PAGET &LIMB-GIRDLE MUSCULAR DYSTROPHY
    NIH/NIAMS R03AR046869Feb 15, 2001 - Jan 31, 2004
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Maclean AE, Kimonis V, Balk J. Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. Hum Mol Genet. 2018 Jul 04. PMID: 29982452.
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    2. Plewa J, Surampalli A, Wencel M, Milad M, Donkervoort S, Caiozzo VJ, Goyal N, Mozaffar T, Kimonis V. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene. Neuromuscul Disord. 2018 Jun 27. PMID: 30097247.
      View in: PubMed
    3. Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018 May 18. PMID: 29776967.
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    4. Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2018 May 05. PMID: 29730598.
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    5. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018 May; 176(5):1161-1165. PMID: 29681103.
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    6. Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V. Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscul Disord. 2018 Apr 17. PMID: 29754758.
      View in: PubMed
    7. Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang AK, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V. Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2018 Jan; 93(1):119-125. PMID: 28692196.
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    8. Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. Am J Med Genet A. 2018 Feb; 176(2):368-375. PMID: 29271568.
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    9. Mahmoud R, Naidu A, Risheg H, Kimonis V. Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion. J Clin Res Pediatr Endocrinol. 2017 12 15; 9(4):380-386. PMID: 28720553.
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    10. Llewellyn KJ, Nalbandian A, Weiss LN, Chang I, Yu H, Khatib B, Tan B, Scarfone V, Kimonis V. Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery. PLoS One. 2017; 12(6):e0176919. PMID: 28575052.
      View in: PubMed
    11. Jones M, Chung J, Kimonis V, Gold JA. A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. Clin Dysmorphol. 2017 Apr; 26(2):98-100. PMID: 27442045.
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    12. Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, Driscoll DJ. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. Am J Med Genet A. 2017 May; 173(5):1243-1250. PMID: 28371242.
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    13. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis V. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations. Am J Med Genet A. 2017 Jun; 173(6):1663-1667. PMID: 28256045.
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    14. Nalbandian A, Khan AA, Srivastava R, Llewellyn KJ, Tan B, Shukr N, Fazli Y, Kimonis V, BenMohamed L. Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy. Inflammation. 2017 Feb; 40(1):21-41. PMID: 27730320.
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    15. Igarashi M, Narayanaswami V, Kimonis V, Galassetti PM, Oveisi F, Jung KM, Piomelli D. Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome. Pharmacol Res. 2017 Mar; 117:75-81. PMID: 28007570.
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    16. Dang V, Surampalli A, Manzardo AM, Youn S, Butler MG, Gold JA, Kimonis V. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). Cytogenet Genome Res. 2016; 150(1):29-34. PMID: 27894106.
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    17. Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017 02; 19(2):160-168. PMID: 27388694.
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    18. Evangelista T, Weihl CC, Kimonis V, Lochmüller H. 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. Neuromuscul Disord. 2016 08; 26(8):535-47. PMID: 27312024.
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    19. Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93. PMID: 27120018.
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    20. Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, Kimonis V, Kitazawa M. The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress. Am J Pathol. 2016 Jun; 186(6):1623-34. PMID: 27106764; PMCID: PMC4901142 [Available on 06/01/17].
    21. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561. PMID: 26924530; PMCID: PMC4800044.
    22. Butler MG, Lee J, Cox DM, Manzardo AM, Gold JA, Miller JL, Roof E, Dykens E, Kimonis V, Driscoll DJ. Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment. Clin Pediatr (Phila). 2016 Sep; 55(10):957-74. PMID: 26842920.
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    23. Llewellyn KJ, Walker N, Nguyen C, Tan B, BenMohamed L, Kimonis V, Nalbandian A. A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. PLoS One. 2015; 10(7):e0131995. PMID: 26134519; PMCID: PMC4489713.
    24. Nalbandian A, Llewellyn KJ, Nguyen C, Yazdi PG, Kimonis V. Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. PLoS One. 2015; 10(4):e0122888. PMID: 25884947; PMCID: PMC4401571.
    25. El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis V, Church JA, Patel A, Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14; 16:12. PMID: 25927380; PMCID: PMC4422130.
    26. Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V. Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. J Genet Couns. 2015 Oct; 24(5):842-50. PMID: 25716352.
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    27. Nalbandian A, Llewellyn KJ, Gomez A, Walker N, Su H, Dunnigan A, Chwa M, Vesa J, Kenney MC, Kimonis V. In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics. Mitochondrion. 2015 May; 22:1-8. PMID: 25724235.
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    28. Llewellyn KJ, Nalbandian A, Gomez A, Wei D, Walker N, Kimonis V. Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome. Neurobiol Dis. 2015 Apr; 76:77-86. PMID: 25684537.
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    29. Nalbandian A, Llewellyn KJ, Nguyen C, Monuki ES, Kimonis V. Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease. Hum Gene Ther Methods. 2015 Feb; 26(1):13-24. PMID: 25545721; PMCID: PMC4337464.
    30. Shamirian S, Nalbandian A, Khare M, Castellani R, Kim R, Kimonis V. Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE e4/APOE e4 genotype. Alzheimer Dis Assoc Disord. 2015 Jan-Mar; 29(1):90-3. PMID: 23715207.
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    31. Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ. Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics. 2015 Jan; 135(1):e126-35. PMID: 25489013; PMCID: PMC4279067.
    32. Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis V. Global gene expression profiling in R155H knock-in murine model of VCP disease. Clin Transl Sci. 2015 Feb; 8(1):8-16. PMID: 25388089; PMCID: PMC4329058.
    33. Surampalli A, Gold BT, Smith C, Castellani RJ, Khare M, Yu H, Nguyen C, Lan M, Wencel M, Wigal S, Caiozzo V, Kimonis V. A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation. Neuromuscul Disord. 2015 Feb; 25(2):177-83. PMID: 25582679.
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    34. Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis V. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2014 May; 27(5-6):511-8. PMID: 24515997.
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    35. Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis V. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. Am J Med Genet A. 2014 Jul; 164A(7):1761-4. PMID: 24677774.
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    36. Kimonis V. Clinical utility and dilemmas of SNP microarray testing. Mol Cytogenet. 2014; 7(Suppl 1 Proceedings of the International Conference on Human):I34. PMID: 24955121; PMCID: PMC4045131.
    37. Kimonis V. Dysmorphology of inborn errors of metabolism. Mol Cytogenet. 2014; 7(Suppl 1 Proceedings of the International Conference on Human):I39. PMID: 24940374; PMCID: PMC4043204.
    38. Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar; 51(3):185-96. PMID: 24431331; PMCID: PMC4278941.
    39. Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013 Dec; 6(6):615-23. PMID: 24200904.
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    40. Llewellyn KJ, Nalbandian A, Jung KM, Nguyen C, Avanesian A, Mozaffar T, Piomelli D, Kimonis V. Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease. Hum Mol Genet. 2014 Mar 01; 23(5):1333-44. PMID: 24158850; PMCID: PMC3919004.
    41. Nalbandian A, Nguyen C, Katheria V, Llewellyn KJ, Badadani M, Caiozzo V, Kimonis V. Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease. PLoS One. 2013; 8(10):e76187. PMID: 24130765; PMCID: PMC3794032.
    42. Dec E, Rana P, Katheria V, Dec R, Khare M, Nalbandian A, Leu SY, Radom-Aizik S, Llewellyn K, BenMohamed L, Zaldivar F, Kimonis V. Cytokine profiling in patients with VCP-associated disease. Clin Transl Sci. 2014 Feb; 7(1):29-32. PMID: 24119107; PMCID: PMC4057603.
    43. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 2014 Apr; 16(4):302-10. PMID: 24071792; PMCID: PMC4143991.
    44. Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis V. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med. 2014 Feb; 16(2):164-9. PMID: 23928912; PMCID: PMC4164429.
    45. Yazdi PG, Su H, Ghimbovschi S, Fan W, Coskun PE, Nalbandian A, Knoblach S, Resnick JL, Hoffman E, Wallace DC, Kimonis V. Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome. Clin Transl Sci. 2013 Oct; 6(5):347-55. PMID: 24127921; PMCID: PMC3815468.
    46. Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis V. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106. PMID: 23606313; PMCID: PMC3755548.
    47. Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis V. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1a subunit gene (PDHA1). Neuropediatrics. 2014 Feb; 45(1):56-60. PMID: 23572181.
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    48. Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis V, Ross ED, Weihl CC, Shorter J, Taylor JP. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28; 495(7442):467-73. PMID: 23455423.
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    49. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan; 161A(1):131-6. PMID: 23225497.
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    50. Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH, Kimonis V. A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse. Muscle Nerve. 2013 Feb; 47(2):260-70. PMID: 23169451; PMCID: PMC3556223.
    51. Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec; 158A(12):3087-100. PMID: 23165726.
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    52. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec; 44(12):1360-4. PMID: 23160099.
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    53. Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis V. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet. 2013 May; 83(5):422-31. PMID: 22909335; PMCID: PMC3618576.
    54. Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis V. The homozygote VCP(R¹55H/R¹55H) mouse model exhibits accelerated human VCP-associated disease pathology. PLoS One. 2012; 7(9):e46308. PMID: 23029473; PMCID: PMC3460820.
    55. Kimonis V, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan; 15(1):79-83. PMID: 22918513.
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    56. Yin HZ, Nalbandian A, Hsu CI, Li S, Llewellyn KJ, Mozaffar T, Kimonis V, Weiss JH. Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis. 2012 Aug 16; 3:e374. PMID: 22898872; PMCID: PMC3434652.
    57. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. PMID: 22829454; PMCID: PMC3495992.
    58. Kimonis V, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012 Sep; 107(1-2):241-2. PMID: 22595425.
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    59. Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis V. Global gene profiling of VCP-associated inclusion body myopathy. Clin Transl Sci. 2012 Jun; 5(3):226-34. PMID: 22686199; PMCID: PMC3375869.
    60. Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA. Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Am J Hum Genet. 2012 Apr 06; 90(4):614-27. PMID: 22464254; PMCID: PMC3322221.
    61. Mahboubi H, Dwabe S, Fradkin M, Kimonis V, Djalilian HR. Genetics of hearing loss: where are we standing now? Eur Arch Otorhinolaryngol. 2012 Jul; 269(7):1733-45. PMID: 22218850.
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    62. Henkhaus RS, Kim SJ, Kimonis V, Gold JA, Dykens EM, Driscoll DJ, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers. 2012 Mar; 16(3):178-86. PMID: 21977908; PMCID: PMC3306590.
    63. Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis V. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci. 2011 Nov; 45(3):522-31. PMID: 21892620.
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    64. Chan N, Le C, Shieh P, Mozaffar T, Khare M, Bronstein J, Kimonis V. Valosin-containing protein mutation and Parkinson's disease. Parkinsonism Relat Disord. 2012 Jan; 18(1):107-9. PMID: 21816654.
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    65. Farpour F, Tehranzadeh J, Donkervoort S, Smith C, Martin B, Vanjara P, Osann K, Kimonis V. Radiological features of Paget disease of bone associated with VCP myopathy. Skeletal Radiol. 2012 Mar; 41(3):329-37. PMID: 21643886.
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    66. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May; 155A(5):1040-9. PMID: 21465655; PMCID: PMC3285445.
    67. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis V. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. PMID: 21594997.
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    68. Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ. Growth standards of infants with Prader-Willi syndrome. Pediatrics. 2011 Apr; 127(4):687-95. PMID: 21402637; PMCID: PMC3065075.
    69. Fanganiello RD, Kimonis V, Côrte CC, Nitrini R, Passos-Bueno MR. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Braz J Med Biol Res. 2011 Apr; 44(4):374-80. PMID: 21412659.
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    70. Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis V. Mutation in PQBP1 is associated with periventricular heterotopia. Am J Med Genet A. 2010 Nov; 152A(11):2888-90. PMID: 20886605; PMCID: PMC3548238.
    71. Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis V. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010 Oct 05; 5(10). PMID: 20957154.
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    77. Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis V, Balog J, Frants RR, Ball AR, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 2009 Jul; 5(7):e1000559. PMID: 19593370; PMCID: PMC2700282.
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    85. Kimonis V, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar 15; 146A(6):745-57. PMID: 18260132; PMCID: PMC2467391.
    86. Oh AK, Thakuria J, Kimonis V, Mulliken JB. Subglossopalatal synechia in association with cardiac and digital anomalies. Cleft Palate Craniofac J. 2008 Mar; 45(2):217-21. PMID: 18333647.
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    87. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis V. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A. 2007 Dec 15; 143A(24):2973-80. PMID: 18000896.
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    88. Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15; 143A(24):3204-15. PMID: 18000976.
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    89. Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis V. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet. 2007 Nov; 72(5):420-6. PMID: 17935506.
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    90. Baris HN, Tan WH, Kimonis V, Irons MB. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 01; 143A(21):2523-33. PMID: 17910064.
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    91. Greenberg SA, Watts GD, Kimonis V, Amato AA, Pinkus JL. Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis. Muscle Nerve. 2007 Oct; 36(4):447-54. PMID: 17626287.
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    92. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep; 14(3):150-61. PMID: 17980312.
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    93. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. PMID: 17522620.
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    94. Kim CC, Liang MG, Pfendner E, Kimonis V. What syndrome is this? Laryngo-onycho-cutaneous syndrome. Pediatr Dermatol. 2007 May-Jun; 24(3):306-8. PMID: 17542886.
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    95. Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis V, Forman MS. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2007 Feb; 66(2):152-7. PMID: 17279000.
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    96. Mehta SG, Watts GD, Adamson JL, Hutton M, Umberger G, Xiong S, Ramdeen S, Lovell MA, Kimonis V, Smith CD. APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). Genet Med. 2007 Jan; 9(1):9-13. PMID: 17224685.
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    97. Mikhak Z, Kelly P, Cohen TS, Cox JE, Kimonis V. Immunoglobulin deficiency in Stickler syndrome. Am J Med Genet A. 2006 Dec 15; 140(24):2824-7. PMID: 17103448.
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    98. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; 140(22):2416-25. PMID: 17036343.
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    99. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Atypical cases of Angelman syndrome. Am J Med Genet A. 2006 Nov 01; 140(21):2361-4. PMID: 17036311.
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    100. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis V. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006 Oct; 26(10):966-72. PMID: 16906598.
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    101. Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R. Pathological consequences of VCP mutations on human striated muscle. Brain. 2007 Feb; 130(Pt 2):381-93. PMID: 16984901.
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    102. Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis V. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9. PMID: 16892302.
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    103. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis V. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A. 2006 Jun 15; 140(12):1337-8. PMID: 16691624.
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    104. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis V. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol. 2006 Jun; 65(6):571-81. PMID: 16783167.
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    105. Neilan E, Pikman Y, Kimonis V. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet. 2006 Jun; 27(2):63-5. PMID: 16754208.
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    106. Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis V, Hardy J, Hallett M, Goldfarb LG. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain. 2006 Sep; 129(Pt 9):2318-31. PMID: 16702189.
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    107. Douyard J, Hawley P, Shaham M, Kimonis V. Duplication of 5q15-q23.2: case report and literature review. Birth Defects Res A Clin Mol Teratol. 2006 Apr; 76(4):272-6. PMID: 16602097.
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    108. Alkuraya FS, Martin CL, Kimonis V. Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing? Prenat Diagn. 2006 Mar; 26(3):291-3. PMID: 16506278.
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    109. Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis V. Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy. Am J Med Genet A. 2006 Feb 15; 140(4):322-30. PMID: 16419137.
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    110. Huang T, Whang JD, Kimonis V. Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene. Genet Med. 2006 Jan; 8(1):59. PMID: 16418602.
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    111. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006 Jan 01; 140(1):17-23. PMID: 16333846; PMCID: PMC2891730.
    112. Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S. Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol. 2005 Dec; 58(6):929-38. PMID: 16315274.
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    113. Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis V. Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome. Hum Genet. 2005 Dec; 118(3-4):508-14. PMID: 16244874.
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    114. Kimonis V, Watts GD. Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Alzheimer Dis Assoc Disord. 2005 Oct-Dec; 19 Suppl 1:S44-7. PMID: 16317258.
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    115. Sahai I, Baris H, Kimonis V, Levy HL. Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005 Oct; 20(10):826-8. PMID: 16417879.
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    116. Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis V. Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. Bone. 2006 Feb; 38(2):280-5. PMID: 16199218.
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    117. Alkuraya FS, Picker J, Irons MB, Kimonis V. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71. PMID: 15965973.
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    118. Tan WH, Baris H, Robson CD, Kimonis V. Cockayne syndrome: the developing phenotype. Am J Med Genet A. 2005 Jun 01; 135(2):214-6. PMID: 15887300.
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    119. Baris H, Tan WH, Kimonis V. Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. Am J Med Genet A. 2005 Apr 15; 134A(2):220-2. PMID: 15712197.
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    120. Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar; 25(3):285-92. PMID: 15714521.
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    121. Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005 Mar; 57(3):457-61. PMID: 15732117.
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    122. Alkuraya FS, Kimonis V, Holt L, Murata-Collins JL. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 01; 132A(4):447-9. PMID: 15580637.
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    123. Alkuraya FS, Lin AE, Irons MB, Kimonis V. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30. PMID: 15580636.
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    124. Kimonis V, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. 2004 Nov-Dec; 6(6):495-502. PMID: 15545745.
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    125. Roberts AE, Irons MB, Kimonis V, Mulliken JB, Morton CC, Lee C, Listewnik M. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7. PMID: 15372522.
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    126. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63. PMID: 15264280.
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    127. Schneider M, Forrester S, Crain V, Kimonis V. A further case of coincidental Prader-Willi and Klinefelter syndromes. Am J Med Genet A. 2004 Apr 15; 126A(2):213-4. PMID: 15057989.
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    128. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis V. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr; 36(4):377-81. PMID: 15034582.
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    129. Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis V. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul Disord. 2003 Sep; 13(7-8):559-67. PMID: 12921793.
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    130. Ramocki MB, Dowling J, Grinberg I, Kimonis V, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet. 2003 Jul; 11(7):527-34. PMID: 12825074.
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    131. Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis V. Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Clin Dysmorphol. 2003 Jul; 12(3):175-7. PMID: 14564155.
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    132. Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis V. Kousseff syndrome caused by deletion of chromosome 22q11-13. Am J Med Genet. 2002 Nov 01; 112(4):338-42. PMID: 12376934.
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    133. Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis V. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. Am J Med Genet. 2002 Apr 01; 108(4):295-303. PMID: 11920834.
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    134. Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis V. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet. 2002 Mar 15; 108(3):187-91. PMID: 11891683.
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    135. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis V. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 Dec; 74(4):458-75. PMID: 11749051.
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    136. Kimonis V. Increased fertility in a woman with classic galactosaemia. J Inherit Metab Dis. 2001 Oct; 24(5):607-8. PMID: 11757592.
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    137. Jonas RE, Kimonis V. Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors. Am J Med Genet. 2001 Jul 01; 101(3):221-5. PMID: 11424137.
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    138. Kovach MJ, Ruiz J, Kimonis K, Mueed S, Sinha S, Higgins C, Elble S, Elble R, Kimonis V. Genetic heterogeneity in autosomal dominant essential tremor. Genet Med. 2001 May-Jun; 3(3):197-9. PMID: 11388761.
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    139. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet. 2001 Jan 01; 98(1):92-100. PMID: 11426460.
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    140. Schneider MC, Hughes CR, Forrester S, Kimonis V. Mild phenotype due to tandem duplication of l7p11.2. Am J Med Genet. 2000 Oct 02; 94(4):296-9. PMID: 11038442.
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    141. Chen AS, Kovach MJ, Herman K, Avakian A, Frank W, Forrester S, Lin JP, Kimonis V. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet Med. 2000 Sep-Oct; 2(5):283-9. PMID: 11399209.
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    142. Kimonis V, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med. 2000 Jul-Aug; 2(4):232-41. PMID: 11252708.
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    143. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan; 24(1):84-7. PMID: 10615134.
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    144. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis V. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999 Jun; 64(6):1580-93. PMID: 10330345; PMCID: PMC1377901.
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    146. Pulkkinen L, Kimonis V, Xu Y, Spanou EN, McLean WH, Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May; 6(5):669-74. PMID: 9158140.
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    147. Kimonis V, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997 Mar 31; 69(3):299-308. PMID: 9096761.
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    148. Kimonis V, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab. 1995 Nov; 80(11):3257-61. PMID: 7593434.
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    149. Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994 Dec; 103(6):764-9. PMID: 7528239.
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