Virginia E Kimonis

Division of Genetics and Metabolism
School of Medicine

M.D., Southampton Medical School, 1976, Medicine

Phone: (714) 456-5791
Fax: (714)456-5330

University of California, Irvine
333 City Tower, Ste 800, Orang
Mail Code: 4482
Irvine, CA 92697
Research Interests
neuromuscular disorders, inclusion body myopathy, Paget disease, frontotemporal dementia, Prader Willi, morbid obesity, craniosynostosis
Academic Distinctions
2004 - 2006 President, Society of Craniofacial Genetics, (2002-2004 Vice President)
2003 and 2004 The Paget Foundation Annual Research Award
2005 Moderator, American College of Medical Genetics Annual Meeting, Dallas, TX
2009 Moderator, American Society of Human Genetics Annual Meeting, Honolulu, HI 1997
2001 Director-Medical Genetics Course, Southern Illinois University School of Medicine
1997 - 2001 Central Research Committee - Member, Southern Illinois University School of Medicine.
1976 - 1977 House Physician in Medicine, St. Mary’s Hospital, Portsmouth, UK
1977 House Surgeon in Surgery, Queen Alexandra Hospital, Portsmouth, UK
1977 - 1981 Regional General Practice Training Prog., St. Mary’s Hospital, Milton Rd, Portsmouth, UK
1981 - 1982 Senior House Officer in Pediatrics, Westminster & Westminster Children’s Hospital, Vincent St., London SW1 and Queen Mary’s Hospital, Roehampton, Surrey, UK
1982 - 1984 Registrar Rotation in Pediatrics, Redhill General and Crawley District Hospitals, Surrey, UK, Queen Mary’s Hospital for Children, Carshalton, Surrey SM5 4NR
1985 - 1986 Clinical Medical Officer in Child Health, Lewisham & N Southwark Health Authority, Newcross Hospital, Avonley Rd, London, UK
1986 - 1987 Consultant Pediatrician, Dubai London Clinic, Dubai, United Arab Emirates
1987 - 1990 Specialist/Consultant Pediatrician, Kuwait Hospital, Dubai, United Arab Emirates
1990 - 1992 Clinical Fellow (PLII and PLIII) in Advanced Pediatrics, Children’s Services, Massachusetts General Hospital, Fruit St, Boston, MA 02114
1992 - 1994 Clinical Associate in Clinical Genetics, Inter-Institute Medical Genetics Fellowship
Program, National Institutes of Health, Bethesda, MD 20892
1994 - 1995 Research Fellow, Genetic Studies Section, Skin Biology Branch, NIAMS, NIH, Bethesda,MD
1995 - 2001 Assistant Professor, Department of Pediatrics, Division of Genetics and Metabolism, Southern Illinois University School of Medicine (SIU SOM), P.O. Box 19658, Springfield, IL
2001 Associate Professor with Tenure, Department of Pediatrics, SIU SOM, Springfield, IL
2001 - 2006 Assistant Professor, Children’s Hospital, Harvard Medical School, Boston, MA
2002 - 2006 Director, Perinatal Genetics, Beth Israel Hospital, Boston, MA
2006 - Professor of Pediatrics, Chief, Division of Genetics & Metabolism, Univ. California, Irvine
Research Abstract
Dr. Kimonis is a Clinical Geneticist-Scientist with a strong interest in the genetics of neuromuscular diseases. Dr. Kimonis's laboratory focuses on the genetic causes of muscle disease. Virginia Kimonis is particularly interested in inherited muscle disorders that occur in combination with diseases of bone. Families with a combination of muscle disease, Paget disease of bone, and dementia (also known as IBMPFD) have been studied in the laboratory, and the gene for the disorder has been localized to chromosome 9. By identifying the causal gene (VCP, CDC48 or p97) for this disorder, the researchers are now identifying the key pathways and functions that are disrupted by the mutations they have found in the affected families.The VCP knock-in mouse model is an excellent model of the human disease and is being utilized for preclinical experiments in the lab for potential therapy.

Dr. Kimonis has established UC Irvine as a RDRCN (Rare Diseases Clinical Research Network) site for the Natural History study of Prader Willi and Morbid Obesity syndrome. She is also involved in other clinical projects.
Peer-reviewed publications
1. Kimonis V. and Fathalla M. A case of Jarcho-Levin Syndrome. Emirates Medical Journal. 1988;6:91-93.
2. Kimonis V. The Ibn Sina Round. Emirates Medical Journal. 1988;6:196-198.
3. Kimonis V and Fathalla M. Two cases of extravascular calcification. Emirates Medical Journal. 1989;7:31-33.
4. Kimonis V. The Ibn' Sina Rounds: My Child isn’t growing. Emirates Medical Journal. 1989;7:187-189.
5. Kimonis V. Pediatric diagnostic quiz. Emirates Medical Bulletin. 1989. March 2-3.
6. Fenson AH. Kimonis V, Fathalla M., Fahmy NA, Sermin A., Benson PF. Clinical heterogeneity in four unrelated patients with mucopolysaccharidosis type III B (Sanfilippo Disease Type III B) from the Arabic Continent. Emirates Medical Journal. 1990;8:129-133.
7. Kimonis VE, 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;103(6):764-9.
8. Kimonis VE, 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;80(11):3257-61.
9. Kimonis V. Genetics in Medicine- some new developments. Downstate Update. A Quarterly Publication of the Springfield Perinatal Center. 1996;7.2:1-3.
10. Kimonis VE, 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;69(3):299-308.
11. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WH, Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997;6(5):669-74.
12. Jonas RE, Kimonis VE, Morales A. Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. Am J Med Genet. 1997;73(2):184-8.
13. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Wang Jabs E, Gelber D, Kimonis VE. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999;64(6):1580-93.
14. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis VE, 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;24(1):84-7.
15. Kimonis VE, 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;2(4):232-41.
16. Chen AS, Kovach MJ, Herman K, Avakian A, Frank W, Forrester S, Lin JP, Kimonis VE. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet Med. 2000;2(5):283-9.
17. Kovach MJ, Ruiz J, Kimonis K, Mueed S, Sinha S, Higgins C, Elble S, Elble R, Kimonis VE. Genetic heterogeneity in autosomal dominant essential tremor. Genet Med. 2001;3(3):197-9.
18. Jonas RE, Kimonis VE. Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors. Am J Med Genet. 2001;101:221-5
19. Kimonis V. Increased fertility in a woman with classic galactosaemia. J Inherit Metab Dis. 2001;24:607-8.
20. 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;98(1):92-100.
21. 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 VE. 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;74(4):458-75.
22. Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet. 2002;108(3):187-91.
23. Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE. 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;108(4):295-303.
24. Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE. Kousseff syndrome caused by deletion of chromosome 22q11-13. Am J Med Genet. 2002;112(4):338-42.
25. Ramocki M.B., Dowling J, Grinberg I, Cardoso C, Gross A, Chung J, Lese C, Kimonis VE, Ledbetter D.H., Dobyns W.B. and Millen K.J. Reciprocal fusion transcripts of two novel Zn-finger genes associated with absence of the corpus callosum in an individual with a Chr 2;9 balanced translocation. Eur J Hum Genet. 2003;11:527-34.
26. Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE. Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Clin Dysmorphol. 2003;12:175-7.
27. Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul Disord. 2003;13(7-8):559-67.
28. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004;36(4):377-81.
29. Schneider M, Forrester S, Crain V, Kimonis V. A further case of coincidental Prader-Willi and Klinefelter syndromes. Am. J Med Genet. 2004;126A:213-4.
30. Roberts AE, Cox GF, Kimonis VE, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet. 2004;128A(4):352-63.
31. Roberts AE, Irons MB, Kimonis VE, 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. 2004;130:204-7.
32. Kimonis VE, 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;6(6):495-502.
33. Alkuraya FS, Kimonis VE, 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. 2004;132A(4):447-449. Review
34. Schröder R, Watts G, M, Mehta S, Evert B.O, Broich P, Fließbach J, Pauls K, Hans V, Kimonis VE, Thal D.R. Clinical, genetic and muscular pathology in inclusion body myopathy with Paget disease of bone. Annals of Neurology. 2005; 57:457-461.
35. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement. Am J Med Genet A. 2005;132A(2):226-30.
36. Kimonis VE and Watts.GDJ. Autosomal Dominant Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. Alzheimer Disease and Related Disorders 2005, 2005.Suppl 1:S44-S47.
37. 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. 58:929-938
38. Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE. Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.Hum Genet. 2005 118:508-14.
39. Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis VE, Zammarchi E, Morrone A.. Primary and secondary EBP defect leads to impaired elastogenesis in GM1- gangliosidosis. (in print). Human Mutation. 2005; Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G(M1)-gangliosidosis.Hum Mutat. 2005 Feb 15;25(3):285-292
40. Tan WH, Baris H, Robson C, Kimonis VE. Cockayne Syndrome: A case of Developing Phenotype. Am J Med Genet A. 2005 Jun 1;135(2):214-6.
41. Alkuraya F S, Picker J, Irons MB, Kimonis VE. Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Jun 17; [Epub ahead of print]
42. Baris H, Tan WH, Kimonis VE. 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;134A(2):220-2. Review. Erratum in: Am J Med Genet A. 2005 Jul 1;136
43. Sahai I Baris H, Kimonis V, Levy H. Krabbe’s disease: A severe neonatal presentation with family history of Multiple Sclerosis. J Child Neurol. 2005 Oct;20(10):826-8.
44. Lucas GJA, Mehta SG, Watts GDJ, Hocking LJ, Stewart TL, Ralston SH, Kimonis VE. Evaluation of the Role of Valosin-Containing Protein in the Pathogenesis of Familial and Sporadic Paget’s Disease of Bone. Bone 2006. 38:280-5.
45. Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE. 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
46. Alkuraya FS, Kimonis VE. Recurrent Miscarriage in Carriers of a Balanced Cytogenetically Undetectable Subtelomeric Rearrangement: How Many Are We Missing? Prenat Diagnosis. 2006 Mar;26(3):291-3
47. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ,. Drachman DA. Jhaveri BS, Karlawish JH, McKeel DW, Pestronk A, Smith TW, Watts GDJ, Markesbery WR, Smith CD, Kimonis VE. Novel ubiquitin neuropathology in frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2006. 65(6):571-81.
48. 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 VE. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006.140:1876-9.
49. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis VE, 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. 140:2416-25.
50. Huang T, Whang JD, Kimonis VE. Sex-Influenced Autosomal Dominant Optic Atrophy Is Caused By Mutations of 983ex9+2a>G In The OPA1 Gene. Genet in Med. 2006. 8:59
51. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Blaise JF, Boyd TK, Fryns JP, Dickman P, Holmes LB, Donahoe PK, Lee C, Kimonis VE, Pober B. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006 Jan 1;140(1):17-23.
52. Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE. 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
53. Douyard J, Hawley P, and Kimonis V. Duplication of 5q15-q23.2: A Case Report and Review of the Literature. Birth Defects Research Part A: Clinical and Molecular Teratology. 2006 Apr 6;76(4):272-276 [Epub ahead of print].
54. Neilan E, Pikman Y, Kimonis VE. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet. 2006 Jun;27(2):63-5.
55. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. Letter to the Editor: Intracranial Anomalies Detected by Imaging Studies in 30 Patients with Apert Syndrome. Am J Med Genet A. 2006 Jun 15;140(12):1337-8.
56. Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, 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.
57. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. Apert syndrome: What prenatal findings should prompt it’s consideration. Prenat Diagn. 2006 Oct;26(10):966-72.
58. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Atypical cases of Angelman syndrome. Am J Med Genet A. 2006 Oct 11; [Epub ahead of print]
59. Hubbers CU, Clemen CS, Kesper K, Boddrich A, Hofmann A, Kamarainen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis VE, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmuller H, Wanker EE, Schoser BG, Noegel AA, Schroder R. Pathological consequences of VCP mutations on human striated muscle. 2007. 130:381-93.
60. Mehta S, Watts GD, Adamson JL, Hutton M, Umberger G; Xiong S; Ramdeen S, Lovell MA, Kimonis VE, Smith C. APOE is a Potential Modifier Gene in an Autosomal Dominant Form of Frontotemporal Dementia (IBMPFD). Genet Med. 2007. 9:9-13.
61. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox G, Robson C, Kimonis VE. Encephalocraniocutaneous Lipomatosis Accompanied by the Formation of Bone Cysts: a Hint to Pathogenesis? Am J Med Genet A. 2007.143:2973-80.
62. Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS. TDP-43 in ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 2007.66:152-157.
63. Fida N, Robson C, Kimonis VE. Polymicrogyria in Di George syndrome: Brief Clinical Report. The Medical Journal of Cairo University. 75:1 Suppl. March 2007.
64. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis VE, 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. 9: 943-9.
65. Baris HN, Tan WH, Kimonis VE, Irons MB. Diagnostic Utility of Array-based Comparative Genomic Hybridization in a Clinical Setting. Am J Med Genet A. 2007.143:2523-33.
66. Kim CC, Liang MG, Pfendner E, and Kimonis VE. What Syndrome Is This? 2007. Pediatr Dermatol. 2007 May-Jun;24(3):306-8.
67. Watts GDJ, Thomasova D , Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A & Kimonis VE. Novel VCP Mutations in Inclusion Body Myopathy associated with Paget Disease of Bone and Frontotemporal Dementia. Clin Genet. 2007 Nov;72(5):420-426.
68. Boyadjiev S for the International Craniosynostosis Consortium: Boggan J, Senders C, Tollefson T, Wong G, Nauta C, Scott A, Jallo G, Carson B, Vander Kolk C, Lin D, Cutler D, Wang Jabs E, Lewis S, Beatty T, Meara J, John Mulliken, and Caroline Robson Kimonis V,
Aldridge K , Richtsmeier J, Marsh J, Kane A, Panchal J, Cunningham M, Wilkie A, Jehee F and Passos-Bueno M, Wallnik B. Genetic Analysis of Non-Syndromic Craniosynostosis. Orthod.Craniofac. Res.2007 Aug;10(3):129-37
69. Greenberg SA Watts GD, Kimonis VE, Amato AA, Pinkus JL. Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body Muscle Nerve. 2007.36:447-54.
70. 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 VE, 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. .2007 143:3204-15
71. Kimonis VE, Mehta S, Wymer J, Pasquali M, Kartashov A, Smith CD, Boycott K,. Neilan E, Kimonis K. Mumm S, Whyte M. Watts G Clinical and Molecular Studies in Nine Families with Familial Myopathy, Paget Disease of Bone and Frontotemporal Dementia. Am J Med Genet Part A 2008. 146A:745-754
72. Albert K. Oh AH, Thakuria J, Kimonis V, and Mulliken JB. Subglossopalatal synechia in association with cardiac and digital anomalies. Cleft Palate Craniofac J.2008. 45:217-21
73. Weihl CC, Temiz P, Miller SE, Watts G, Smith C, Forman M, Hanson PI, Kimonis VE, Pestronk A. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.J Neurol Neurosurg Psychiatry. 2008.79:1186-9.
74. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis VE, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. Hum Mutat. 2008 Jul 18.
75. Kimonis VE, Fulchiero, E, Vesa, J, and Watts, G. VCP Disease associated with myopathy, Paget Disease of Bone and Frontotemporal Dementia: Review of a newdisorder. “Ubiquitin, Proteasomes and Disease" for BBA - Molecular Basis of Disease. Biochim Biophys Acta. 2008 Dec;1782(12):744-8. Epub 2008 Sep 18. Review.
77. Mikhak Z, Mulliken JB, Lee J, Bonilla FA, Kimonis VE. Humoral immune deficiency and hemifacial microsomia seen in one family. Cleft Palate Craniofac J. 2009 Sep;46(5):477-80. Epub 2009 Feb 20
78. Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia. Neuromuscul Disord. 2009 May;19(5):308-15. Epub 2009 Apr 19.
79. Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am J Med Genet A. 2009 May;149A(5):931-8.
80. Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Mitochondrial dysfunction in CA1 hippocampal neurons of the Ube3a deficient mouse model for Angelman syndrome. Neurosci Lett. 2009 Jun 26. [Epub ahead of print]
81. Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, 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. Epub 2009 Jul 10.
82. Butler MG, Sturich J, Myers SE, Gold JA, Kimonis VE, Driscoll DJ. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet. 2009. 26:461–466
83. Vesa J, Su H, Watts GD, Krause S, Walter MC, Martin B, Smith C, Wallace DC, Kimonis VE. Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscular Disorders 19 (2009) 766–772.
84. Tresse E, Salomons FA, Vesa J, Bott LC, Kimonis V, Yao TP, Dantuma NP and Taylor JP. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy 6:2, 1-11; February 16, 2010
85. Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis VE.. Mutation in PQBP1 is associated with Periventricular Heterotopia. Am J Med Genet 2010. Sep 30.
86. Peters S, Bird L, Kimonis VE, Glaze D, Shinawi L, Bichell T, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, Beaudet A, O'Brien W, Bacino C. Double-blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic Acid. AM.J Med Genet. Part A .2010 Aug;152A(8):1994-2001
87. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54.
88. 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 VE. VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease. 2010. PLoS ONE 5(10): e13183. doi:10.1371/journal.pone.0013183.
89. Fanganiello R.D., Kimonis V, Nitrini R, Passos-Bueno M.R. A Brazilian family with IBMPFD caused by p.R93C mutation in the VCP gene and literature review for genotype-phenotype correlations Braz J Med Biol Res. 2011 Mar 11.
90. Lin AE, Singh K, Strauss A, Nguyen A, Rawson K, Kimonis VE. An Additional Patient with Mycophenolate Mofetil Embryopathy: Cardiac and Facial Analyses. Am J Med Genet 2010 155A(4): 748-56, 2011 Apr.
91. Miller, JL, Lynn CH, Driscoll DC, Goldstone AP, Kimonis VE, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Nutritional Phases in Prader-Willi Syndrome. 155A(5):1040-9, 2011 May
92. Farpour F, Tehranzadeh J, Donkervoort S, Smith C, Martin B, Vanjara P, Osann K, Kimonis VE. Radiological Features of Paget Disease of Bone Associated with VCP Inclusion Body Myopathy. Skeletal Radiology. 2011 Jun 4. [Epub ahead of print]
93. 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. 2011 Aug 2. [Epub ahead of print]
94. Kimonis V, Donkervoort S, Watts G. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2007 May 25 [updated 2011 Jul 28].
95. Henkhaus RS, Kim SJ, Kimonis VE, 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. 2011 Oct 6.
96. 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 VE. 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. Epub 2011 Sep 3.
97. Bree AF, Shah MR; BCNS Colloquium Group (Bale A, Bale S, Bree A, Schmitt Burr K, Engel E, Epstein E, Fakharzadah S, Fosko S, Geller T, Robert Gorlin (Deceased), Gorry P, Gottesman G, Helman J, Hellstein J, Kimonis V, Anthony Oro A). Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep;155A(9):2091-7. doi: 10.1002/ajmg.a.34128. Epub 2011 Aug 10.
98. Camacho-Vanegas O, Catalina Camacho S, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MCM, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, and Martignetti JA. Mutations in newly identified MTAP exons result in a hereditary bone cancer syndrome characterized by dysregulated expression of these primate-specific,retroviral-derived isoforms.Am J Hum Genet. 2012 Apr 6;90(4):614-27. Epub 2012 Mar 29.
99. Nalbandian A, Ghimbovschi S, Aizik S, Dec E, 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. doi: 10.1111/j.1752-8062.2012.00407.x. Epub 2012 Apr 4.
100. Kimonis,V.E, Steller J, Sahai I, Grange D, Zelaya BM, Mandell R, Shih K, Shih V, Shoemaker J. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012 Apr 20. [Epub ahead of print]
101. Yin HZ, Nalbandian A, Hsu C-I, Li S, Llewellyn K, Mozaffar T, Kimonis VE*, Weiss A mutant valosin-containing protein (VCP) gene knockin mouse model of ALS (* co-corresponding author). Cell Death Dis. 2012 Aug 16;3:e374. doi: 10.1038/cddis.2012.115.
102. Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH and Kimonis VE. A Progressive Translational Mouse Model of Human VCP Disease: The VCP R155H/+ Mouse (in press).
103. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara P, Bernstein J, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. ALX4 gain-of-function mutations in non-syndromic craniosynostosis. Human Genetics. 2012 (in press).
104. 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 VE. Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. Clin Genet. 2012 Aug 21. doi: 10.1111/cge. 12000. [Epub ahead of print].
105. Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. Rodgers W, Ancliff P, Ponting CP, Sanchez-Pulido L, Burns S, Hayman M, Kimonis V, Sebire N, Bulstrode N, Harper JI. Br J Dermatol. 2012 Aug 27. doi: 10.1111/bjd.12016. [Epub ahead of print].
106. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. Genet Med. 2012 Aug 23. doi: 10.1038/gim.2012.96. [Epub ahead of print].
107. Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE. The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology. PLoS ONE ( in press).
108. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye C, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AOM, 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 non-syndromic sagittal craniosynostosis near BMP2 and within BBS9. In press. Nature Genetics. 2012.
109. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, 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 (in press).
110. Rodgers W, Ancliff P, Ponting CP, Sanchez-Pulido L, Burns S, Hayman M, Kimonis V, Sebire N, Bulstrode N, Harper JI. Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. Br J Dermatol. 2012 Aug 27. doi: 10.1111/bjd.12016.

1. Kimonis VE, Gold JA, Hoffman TL, Panchal J, and Boyadjiev SA. 2007. Genetics of Craniosynostosis. Semin. Peds. Neurol. 2007. 15.143:3204-15.
2. Smith CD, Martin B, Watts GD, Caiozzo V, Badadani M, Nalbandian A, Dec E, Vesa J, Donkervoort S & Kimonis V. Valosin-containing protein (VCP) Disease and Familial Alzheimer’s Disease: Contrasts and Overlaps. Alzheimer's Disease / Book 1. 2011, Intechopen Publishing (September 6, 2011)
3. Kimonis VE, Dec E, Vesa J, Badadani M, Watts DG, Nalbandian A, Caiozzo V, Martin B, Smith C. Clinical spectrum of VCP myopathy, Paget’s disease and fronto-temporal dementia; experimental models and potential treatments for : Muscle Aging, Inclusion-Body Myositis and Myopathies, eds. Valerie Askanas and W. King Engel. 2012 Wiley-Blackwell Publishing; 1 edition (March 6, 2012).
4. Kimonis VE , Nalbandian A, Llewellyn K, Khare M, Dec E, Wencel M, Yin H, Caiozzo V, Martin B, Smith C, Rafi S, Wang A, Mozaffar T, Weiss J. New Vistas in Understanding the Pathophysiology of Valosin-Containing Protein (VCP)/P97 Disease. Myopathies: New Research. Nova Publication. 2012. Editors: Howard S. Washington and Chris E. Castillo Jimenez
2012-2014 R21/NIAMS, National Institute of Health. High-fat diet rescues lethality of homozygous knock-in R155H VCP myopathic mice 8/1/12-7/30/14 Muscular Dystrophy Association 7/1/2010- 6/30/2013 Preclinical Studies in VCP Inclusion Body Myopathy Aims: 1) Generation of novel mouse models with the R155H KI mice to provide an understanding of the pathogenesis of the VCP disease, 2) Assessment of the effect of ERAD modifiers on patient myoblasts and VCP R155H knock-in heterozygote and homozygote myoblasts/fibroblasts, 3) Assessment of the effect of exercise on the progression of muscle weakness, ERAD and ER stress in VCP R155H knock-in mice. RR-03-008 09/01/03 - 08/31/09, Renewal 09/01/09- 8/31/14 NIH/NICHD Rare Disease Clinical Research Network: Rare disease CRC for new therapies and new diagnostics. Kimonis PI at UCI site. (Alan Percy PI, Univ. Alabama) Natural History Study of Prader-Willi Syndrome & Early-onset Morbid Obesity 09/01/10 - 08/31/11 NIH/NICHD Rare Disease Clinical Research Network: Training Award to Puya Yazdi, MD: Exploring potential mitochondrial dysfunction in a mouse model for Prader-Willi syndrome (Kimonis PI). R01/R56 AR050236 NIAMS, National Institute of Health 07/01/04 - 08/30/11 (no cost extension) Gene Causing Paget and Inclusion Body Myopathy (Kimonis PI) (R56 AR050236-06, NIAMS, NIH Director’s Bridge Award 9/1/2009-8/30/2011) Aims: 1) Perform genotype/phenotype studies 2) screening of VCP in isolated inclusion body myopathy, limb girdle syndrome or Paget disease of bone, 3) sharing results of testing in a genetic counseling setting 4) mouse model of IBMPFD 11/01/09 - 10/31/12 Stem Cell Training Grant II Program, California Institute for Regenerative Medicine (CIRM) for Eric Dec, MD. (Kimonis PI). Myotube development in VCP disease using iPS cells (Kimonis PI). R01 NIA/NIH 10/1/2006-6/30/2011 (no cost extension) Imaging Brain Function/Structure in Presymptomatic FTD Kimonis-Co-PI (PI - Charles Smith) Aim: Functional MRI & cognitive tests in carriers and non-carriers of VCP mutations to refine predictive model for dementia.
Professional Societies
1992- Am. Soc. of Human Genetics,
1995- Society for Inherited Metabolic Disorders (SIMD).
1995- Society for the Study of Inborn Errors of Metabolism
1998- Am. College of Medical Genetics
2001- Society of Craniofacial Genetics
Graduate Programs
Medical Genetics

Research Center
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG)
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