Virginia E Kimonis

Picture of Virginia E Kimonis
Division of Genetics and Genomic Medicine, Pediatrics
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 currently a Clinician Scientist and tenured professor in the Division of Genetics and Genomic Medicine, Department of Pediatrics, UC Irvine, and Children’s Hospital, Orange County. Dr. Kimonis received her medical degree from Southampton Medical School, United Kingdom and trained in pediatrics and general practice in the UK before moving to the US. She completed a residency in pediatrics at Massachusetts General Hospital, Boston and fellowship training in Clinical and Biochemical Genetics at the National Institutes of Health, Johns Hopkins and Washington D.C. Children's Hospital. She is board certified in Pediatrics, Clinical and Biochemical Genetics. She previously served as the Chief of Genetics at Southern Illinois University School of Medicine. She worked at Boston Children’s Hospital/Harvard Medical School before joining UC Irvine in 2006 as the Chief of the Division of Genetic Medicine and Genomic Medicine until 2012.
Dr. Kimonis' clinical interests are varied. She participates in comprehensive service in Clinical and Biochemical Genetics. She specializes in the diagnosis and management of children and adults with neuromuscular, neurodegenerative, dysmorphic features, and other complex disorders. Dr Kimonis is an active tutor and lecturer and teaches genetics fellows, residents, and medical students, genetic counseling graduate and undergraduate students. Additionally she mentors postdocs and other trainees in their laboratory projects.
She has an active clinical research and laboratory program that primarily focuses on inherited muscle disorders, lysosomal storage diseases, Prader Willi, as well as several other rare disorders. She has developed the University of California, Irvine Lysosomal Disease Program, conduct a registry study in a large cohort of patients with Pompe disease. She completed a trial of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment. She discovered an important disease: multisystem proteinopathy associated with mutations in the VCP gene which has overlap with Pompe disease. She has received funding from the NIH, MDA, Paget Foundation, AMDA, hIBM and other foundations for her research. Dr. Kimonis' goal is to integrate the basic science research with clinical research, establish a premier clinical, and research program in Rare Genetic Diseases.
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. 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].
53. 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.
54. 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.
55. 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.
56. 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.
57. 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]
58. 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.
59. 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.
60. 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.
61. 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.
62. 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.
63. 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.
64. 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.
65. Kim CC, Liang MG, Pfendner E, and Kimonis VE. What Syndrome Is This? 2007. Pediatr Dermatol. 2007 May-Jun;24(3):306-8.
66. 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.
67. 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
68. 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 myositis. Muscle Nerve. 2007.36:447-54.
69. 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
70. 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
71. 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
72. 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.
73. 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.
74. Kimonis VE, Fulchiero, E, Vesa, J, and Watts, G. VCP Disease associated with myopathy, Paget Disease of Bone and Frontotemporal Dementia: Review of a new disorder. “Ubiquitin, Proteasomes and Disease" for BBA - Molecular Basis of Disease. Biochim Biophys Acta. 2008 Dec;1782(12):744-8. Epub 2008 Sep 18. Review.
75. 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
76. 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.
77. 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.
78. 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. 2011 Jan 7;487(2):129-33
79. 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.
80. 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
81. 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.
82. 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
83. 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.
84. 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
85. 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.
86. 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.
87. 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.
88. 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.
89. 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
90. 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. doi: 10.1542/peds.2010-2736. Epub 2011 Mar 14.
91. 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].
92. 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.
93. 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].
94. 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. 2012 Mar;16(3):178-86
95. 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.
96. 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.
97. 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.
98. 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
99. 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].
100. Yin HZ, Nalbandian A, Hsu C-I, Li S, Llewellyn K, Mozaffar T, Kimonis VE*, Weiss J. 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.
101. 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. Muscle Nerve. 2012 Jul 12. doi: 10.1002/mus.23522. [Epub ahead of print].
102. 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 Hum Mutat. 2012 Jul 24. doi: 10.1002/humu.22166. [Epub ahead of print]
103. 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].
104. 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].
105. 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].
106. 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 VE. The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology. PLoS One. 2012;7(9):e46308. doi: 10.1371/journal.pone.0046308. Epub 2012 Sep 28.
107. 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. Nature Genetics. 2012 (In press).
108. 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. Am J Med Genet A. 2012 Dec 7. doi: 10.1002/ajmg.a.35700.
109. 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.
110. 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. doi: 10.1002/ajmg.a.35638. Epub 2012 Nov 19.
111. Fan Y, Steller J, Gonzalez I, Fox M, Chang R, Westerfield B.A, Batra A.S, Wang R.Y, Gallant N.M, Pena L.S, Wang H, Huang T, Bhuta S, Penny D.J, McCabe E.R, Kimonis V.E. A novel missense mutation M185V in the TAZ (G4.5) gene associated with atypical Barth syndrome. JIMD Rep. 2013 Apr 19. [Epub ahead of print]
112. Steller. J. Gargus JJ. Kimonis. V. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with a novel hemizygous in-frame duplication of the E1a subunit gene (PDHA1). Neuropediatrics. 2013 Apr 9. [Epub ahead of print]
113. Shamirian S, Nalbandian A, Khare M, Kim R, Kimonis V. Alzheimer and severe vision impairment in a woman with VCP disease associated with APOE4/APOE4 genotype. Alzheimer Disease and Associated Disorders. 2013 May 24. [Epub ahead of print]
114. Yazdi P, Su H, Ghimbovschi S, Fan W, Coskun PE, Resnick J, Weiss JH, Hoffman E, Wallace DC, Kimonis VE. Differential gene expression and mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi Syndrome. Clin Transl Sci. 2013 Oct;6(5):347-55. doi: 10.1111/cts.12083. Epub 2013 Jul 29.
115. Gold JA*, Ruth C*, Osann K, Flodman P, McManus B, Lee H-S, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med. 2013 Aug 8. doi: 10.1038/gim.2013.97.Epub 2013 Aug 8. * Joint first authors
116. Dec E, Rana P, Katheria P, 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. 2013 Oct 3. doi: 10.1111/cts.12117. [Epub ahead of print]
117. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis VE. Familial incidence and associated symptoms in a population of individuals with non-syndromic craniosynostosis. Genet Med. 2013 Sep 26. doi: 10.1038/gim.2013.134. [Epub ahead of print]
118. Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE. Effect of Genetic Subtypes and Growth Hormone Treatment on Bone Mineral Density in Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2014 Feb 7. pii: /j/jpem-ahead-of-print/jpem-2013-0180/jpem-2013-0180.xml. doi: 10.1515/jpem-2013-0180. [Epub ahead of print]
119. Nalbandian A, Nguyen C, Katheria V, Llewellyn KJ, Badadani M, Caiozzo V, Kimonis VE. Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease. PLoS One. 2013 Oct 9;8(10):e76187. doi: 10.1371/journal.pone.0076187.
120. 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 Nov 7. [Epub ahead of print]
121. Llewellyn KJ, Nalbandian A, Jung KM, Nguyen C, Avanesian A, Mozaffar T, Piomelli D, Kimonis VE. Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease. Hum Mol Genet. 2014 Mar 1;23(5):1333-44. doi: 10.1093/hmg/ddt523. Epub 2013 Oct 24.
122. Sardina JM, Walters AR, Singh KE, Kimonis VE. Amelioration of the Typical Cognitive Phenotype in a Patient with a Partial Duplication of CTNND2 in Addition to the 5pter Deletion Associated with Cri-du-chat syndrome: A Clinical Report. In press. Am J Med Genet. 2013
123. 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 Jan 15. doi: 10.1136/jmedgenet-2013-101660. [Epub ahead of print]
124. Dec E, Ferguson D, Nalbandian A, Gargus M, Katheria V, Rana P, Ibrahim A, Hatch M, Lan M, Llewellyn KJ, Keirstead H and Kimonis VE. Disease-specific induced pluripotent stem cell modeling: insights into the pathophysiology of valosin containing protein (VCP) disease. Clin Transl Sci. 2013 Oct 3. doi: 10.1111/cts.12117.
125. Llewellyn KJ, Nalbandian A, Wencel M, Martignetti J, Kimonis VE. Clinical characterization of a rare autosomal disease hereditary bone dysplasia/osteosarcoma and limb girdle myopathy in a unique family.2014.Journal of Rare Disorders.2.10-14
126. Hamorsky K, Surampalli A, Wencel M, Khare M, Kimonis VE. The Influence of Diet and Exercise on the Physical Health of Affected Individuals with VCP Disease. International Journal of Biotechnology for Wellness Industries, 2014, 3, 46-52.
127. Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, McInerney-Leo A, Kimonis V. Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. J Genetic Counsel. Feb 26. [Epub ahead of print]
128. Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE. Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease. Clin Transl Sci. 2014 Nov 12. doi: 10.1111/cts.12241. [Epub ahead of print]
129. Nalbandian A, Llewellyn KJ, Nguyen C, Monuki ES, Kimonis VE. Targeted Excision of VCP R155H Mutation by Cre-LoxP Technology as a Promising Therapeutic Strategy for VCP Disease. Human Gene Ther Methods 2014 Dec 29. [Epub ahead of print]
130. 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. doi: 10.1542/peds.2014-1711. Epub 2014 Dec 8. Erratum in: Pediatrics. 2015 May;135(5):946.
131. Llewellyn KJ, Gomez A, Nalbandian A, Wei D, Walker N, Lank K and Kimonis VE. 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. doi: 10.1016/j.nbd.2015.01.005. Epub 2015 Feb 12.
132. El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A and Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2.
133. Nalbandian A, Llewellyn KJ, Nguyen C, Yazdi PG Kimonis VE. Rapamycin and Chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show unexpected results in valosin containing protein multisystem proteinopathy. PLoS One. 2015 Apr 17;10(4):e0122888. doi: 10.1371/journal.pone.0122888. eCollection 2015.
134. Nalbandian A, Llewellyn KJ, Gomez A, Walker N, Su H, Dunnigan A, Chwa M, Vesa J, Kenney M and Kimonis VE. In Vitro Studies in VCP-Associated Multisystem Proteinopathy Suggest Altered Mitochondrial Bioenergetics. Mitochondrion. 2015 May;22:1-8
135. Llewellyn KJ, Walker N, Nguyen C, Tan B, BenMohamed B, Kimonis VE, Nalbandian A. A fine balance of dietary lipids improves pathology of a murine model of VCP-associated multisystem proteinopathy. PLoS One. 2015 Jul 2;10(7):e0131995. doi: 10.1371/journal.pone.0131995.
136. Srour M, Caron V, Pearson T, Nielsen S, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Al-obeidi E, Schneider A, Okashah Littlejohn R, Douzgou S, Tremblay A, Michaud JL. Gain-of-function mutations in RARB cause intellectual disability with a progressive form of motor impairment. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9.
137. Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, Kimonis VE, Kitazawa M. The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress. Am J Pathol. 2016 Apr 19. pii: S0002-9440(16)30019-0. doi: 10.1016/j.ajpath.2016.02.007. [Epub ahead of print]
138. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-61. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25.
139. Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein M.D. WM, Lehky T, Brewer C, Baker CH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala AS, 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. 2016 Jul 7. doi: 10.1038/gim.2016.75. [Epub ahead of print]
140. Evangelista T, Weihl CC, Kimonis V, Lochmüller H, on behalf of the VCP related diseases Consortium Workshop report: 215th ENMC International Workshop. VCP-related multi-system proteinopathy (IBMPFD), 13–15 November 2015, Heemskerk, The Netherlands. Neuromuscular Disorders. 2016. 26(8):535-47. doi: 10.1016/j.nmd.2016.05.017. Epub 2016 May 30
141. 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. 2016 Jul 20. [Epub ahead of print]
142. Nalbandian A, Khan AA, Srivastava R, Llewellyn KJ, Tan B, Shukr N, Fazli Y, Kimonis VE, BenMohamed L. Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy. Inflammation. 2016 Oct 11. [Epub ahead of print]
143. Dang V, Surampalli A, Youn S, Gold JA, Kimonis V. Prader-Willi syndrome Due To An Unbalanced De Novo Translocation. t(15;19)(q12;p13.3). Cytogenet Genome Res. 2016 Nov 29. [Epub ahead of print]
144. 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. doi: 10.1177/0009922815617973.
145. Igarashi M, Narayanaswami V, Kimonis V, Galassetti P, Oveisi F, Jung K-M, Piomelli D. Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome Pharmacol Res. 2016 Dec 19;117:75-81. doi: 10.1016/j.phrs.2016.12.024. [Epub ahead of print]
146. Miller J, Butler M, Kimonis V, Gold J, Surampalli A, Shambaugh C, Tamura J, Driscoll D. 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. doi: 10.1002/ajmg.a.38160. Epub 2017 Mar 30.
147. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. 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 Mar 3. doi: 10.1002/ajmg.a.38204. [Epub ahead of print]
148. Llewellyn KJ, Nalbandian A, Weiss LN, Chang I, Yu H, Khatib B, Tan B, Scarfone V, Kimonis VE. Myogenic differentiation of VCP disease-induced pluripotent stem cells: a novel platform for drug discovery. Plos One. 2017 Jun 2;12(6):e0176919. doi: 10.1371/journal.pone.0176919
149. Walker P, Kimonis V. Transplantation of human iPSC (Human pluripotent stem cell derived myoblasts) in an animal model of VCP disease (Excellence in Research Program), 2017. Journal of Undergraduate Research, School of Biological Sciences, UC Irvine.
150. Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang A, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V. Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2018;93(1):119-125
151. Mahmoud R, Naidu A, Risheg H, Kimonis V. Response to Growth Hormone Treatment in a Patient with Insulin- Growth Factor 1 Receptor (IGF1R) Deletion. 2018. Journal of Clinical Research and Pediatric Endocrinology.
152. 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. doi: 10.1002/ajmg.a.38679.
153. Plewa, J and Kimonis V. A Cross-Sectional clinical analysis of individuals with mutations of the valosin-containing protein gene. Online Journal of Undergraduate Research in the Biological Sciences, 2017-2018.
154. Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, D.J. Driscoll, D, Kimonis V. A multicenter study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018. Sep;55(9):594-598. doi: 10.1136/jmedgenet-2017-105118. Epub 2018 May 18.
155. Butler MG, Kimonis V, Dykens E, Gold JA, M. iller 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. doi: 10.1002/ajmg.a.38582. Epub 2017 Dec 22.
156. Sejad 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. Neuromuscular Disorders 2018 (in press).
157. Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold, Kim S-J,
Weisensel N, Tamura R, Miller JL, Driscoll DJ. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2019 Mar;56(3):149-153. doi: 10.1136/jmedgenet-2018-105301. Epub 2018 May 5.
158. Husain M, Lemieux B, Marina Dutra-Clarke M, Wencel M, Solomon BD, Kimonis V. Phenotypic Diversity of Patients Diagnosed with VACTERL Association. 2018. Am J Med Genet A. Sep;176(9):1830-1837. doi: 10.1002/ajmg.a.40363. Epub 2018 Aug 27.PMID:30152190
159. Ham M, Han J, Osann K, Smith M, Kimonis V. Meta-Analysis of Genotype-Phenotype Analysis of OPA1 Mutations in Autosomal Dominant Optic Atrophy.2018. Mitochondrion. Aug 27. pii: S1567-7249(17)30239-8. doi: 10.1016/j.mito.2018.07.006. [Epub ahead of print]. PMID: 30165240.
160. Maclean AE, Kimonis VE, Balk J. Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. 2018. Hum Mol Genet, 27: 21, 1: 3697–3709,
161. Plewa J, Surampalli A, Wencel M, Milad M, Donkervoort, Vincent J. 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. Neuromuscular Disorder. Sep;28(9):778-786. doi: 10.1016/j.nmd.2018.06.007. Epub 2018 Jun 27.PMID:30097247
162. Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JA. Contributing factors of mortality in Prader-Willi syndrome. Am J Med Genet A. 2018 Dec 19. doi: 10.1002/ajmg.a.60688. [Epub ahead of print]
163. Mahmoud R, Singh P, Lakatos A, Oakes M, Hossain W, Butler MG, Kimonis V. Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. Am J Med Genet A. 2018. Dec 17. doi: 10.1002/ajmg.a.60681. [Epub ahead of print]
164. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH and Eric Muller E. ALG11-CDG syndrome; expanding the phenotype (Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.
165. Surampalli A, Nalbandian A, Donkervoort S, Khare M, Wang A, Castellani R, Yin H, Rubio A, Patel P, Weiss J, Mozaffar T, Kimonis VE. A Clinicopathologic Case Report of a Female with Valosin- Containing Protein (VCP) Gene Mutation Related Disease. Int J Neurodegener Dis 2018, 1:006 Volume 1 | Issue 1
166. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A13, Phadke S14, Sirisena ND15, Dissanayake VHW15, Ferreira CR10, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.
167. Hjelm BE, Rollins B, Morgan L, Sequeira A, Mamdani F, Pereira F, Damas J, Webb MG, Weber MD, Schatzberg AF, Barchas JD, Lee FS, Akil H, Watson SJ, Myers RM, Chao EC, Kimonis V, Thompson PM, Bunney WE, Vawter MP. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders. Nucleic Acids Res. 2019 Mar 14. pii: gkz164. doi: 10.1093/nar/gkz164.
168. Parker J, Mozaffar T, Messmore A, Deignan JL, Kimonis VE, Ringman JM. Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype. Neurosci Lett. 2019 Apr 23;699:195-198. doi: 10.1016/j.neulet.2019.01.047. Epub 2019 Feb 1.
169. Kimonis V, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, G. Butler MG, and Driscoll DJ. Early diagnosis in Prader-Willi syndrome reduces obesity and associated co-morbidities (in review).
170. Kimonis V, Mahmoud R, Leonenko A, Gold JA, Miller JL, Roof E, Dykens E, G. Butler MG, and Driscoll DJ. Influence of Molecular Classes and Growth Hormone on Dysmorphological Features in Prader-Willi Syndrome: a Multicenter Study (in review).
171. Alandy-dy J, Wencel M, Hall K, Simon J, Chen Y, Valenti E, Yang J, Bali D, Lakatos A, Goyal N, Mozaffar T, Kimonis V. Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease. Ann Transl Med 2019. doi: 10.21037/atm.2019.06.48
172. Lemmers RJLF, van der Vliet PJ, Töpf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Tawil R, van der Maarel S. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localization of variants in the ATPase domain. J Med. Genet. (in press).
173. Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. A New Family with HSPB8 Associated Autosomal Dominant Rimmed Vacuolar Myopathy. Neurology Genetic. 2019;5:e349. doi:10.1212/NXG.0000000000000349.
174. Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ. Birth seasonality studies in a large Prader-Willi syndrome cohort. Am J Med Genet A. 2019 Jun 21. doi: 10.1002/ajmg.a.61263. [Epub ahead of print]. PMID: 31225937.
175. Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Hum Mutat. 2019 Jul 24. doi: 10.1002/humu.23878. [Epub ahead of print].
176. Kimonis V, Surampalli A, Wencel M, Gold JA, Cowen NM. A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome. PLOsONE. 14(9): e0221615.
177. Kimonis V. 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 2019 Aug 28].
178. Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. A Randomized, Placebo-Controlled Trial of Folic acid and Betaine in identical twins with Angelman syndrome. Orphanet (Accepted).
179. Rose L, Hall K, Tang S, Hasadsri L, Kimonis V. Homozygous B4GALNT1 Mutation and Biochemical Glutaric Acidemia Type II: A Case Report. Clinical Neurology and Neurosurgery (Accepted).

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


1. Kimonis V. International Medical Volunteerism: A visit to the Homeland. The 30th Annual AAPI Convention Souvenir Book Program Guide. 2012
2003-2006 PI, NIH./NIAMS , R03 AR46869-03, Characterization of Familial Myopathy & Paget Disease 2003-2006 N.I.H./NICHD, RR-03-008, (PI Arthur Beaudet; PI, Virginia Kimonis Boston site) Rare disease CRC for new therapies and new diagnostics, Rare Disease Clinical Research Network. Double Blind Treatment Protocol of Angelman Syndrome with Betaine and Folate. 2004-2009 PI, NIH, R01 AR050236-01A1, Genetic basis of myopathy with Paget disease of bone 2005-2006 Co-PI, GCRC/CreFF, The Forsyth Institute/Children’s Hospital, Boston (PI Jezewski, Peter). Clinical and Molecular Studies in Blepharo Cheilo Dontic syndrome 2006-2009 Co-PI, (PI- Dr Charles Smith) R01 NIH/NINDS Imaging Brain Function/Structure in Presymptomatic FTD 2006-2009 PI-Boston site R01 DE016886 form NIH-NIDCR Non-syndromic Craniosynostosis :Phenotype: Genotype Study 2006-2009 PI, Irvine site, N.I.H./NICHD, RR-03-008 Rare Disease Clinical Research Network. Rare disease CRC for new therapies and new diagnostics. Study: Natural history of Prader-Willi Syndrome and early-onset morbid obesity (PI Arthur Beaudet) 2007-2008 2008-2009 N.I.H./NICHD, RR-03-008 Rare Disease Clinical Research Network. Rare disease CRC for new therapies and new diagnostics. Study: Natural history of Prader-Willi Syndrome and early-onset morbid obesity (PI Arthur Beaudet) Training Award for Hailing Su, MD, PhD. 2008-2009 Exploring potential mitochondrial dysfunction in a mouse model for Prader-Willi syndrome Foundation for Prader Willi Research. (FPWR)(PI Kimonis). 2009-2010 Multi Investigator Faculty Research Grant The Academic Senate Council on Research, Computing and Libraries (CORCL). Defective p97/VCP protein complex formation in hereditary inclusion body myopathy 2009-2011 RO1/R56, Director’s Bridge Award: Translational Studies in VCP Associated IBM and Paget Disease 2010-2010 Prader-Willi California Foundation (PWCF). CHOC-UCI Prader Willi Clinic 2010-2011 Rare disease CRC for new therapies and new diagnostics. Training Award for June-Anne Gold, MD Study: Evaluation of genotype phenotype data and effects of growth hormone treatment and exploring potential novel treatments in Prader-Willi syndrome. (PI Virginia Kimonis) 2009-2014 RR-03-008 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 09/01/03 - 08/31/14 2010-2013 Muscular Dystrophy Association Preclinical Studies in VCP Inclusion Body Myopathy with Paget Disease of Bone 7/1/2010- 6/30/2013 (PI Virginia Kimonis) 2011-2012 Team Building Grant: Muscle Cell Biology group/ Neuromuscular Center of Excellence (PI Virginia Kimonis)
2011-2012 Deans Triumvirate Award, UC Irvine School of Medicine (PIs Peter Kaiser, Virginia Kimonis, Lan Huang) 2011-2012 Physician’s Specialty Foundation. Genetics of Craniosynostosis (PI Virginia Kimonis) 2011-2012 Children’s Hospital of Orange County Foundation (PI Virginia Kimonis) 2012-2013 Multi Investigator Faculty Research Grant The Academic Senate Council on Research, Computing and Libraries (CORCL). Project Title: Characterization of VCP Inclusion Body Amyotropic Lateral Sclerosis 2014-2015 FPWR (Foundation for Prader Willi Research. (PI Daniele Piomeli & Virginia Kimonis). Role of the lipid-derived satiety factor, oleoylethanolamide, in Prader-Willi syndrome. 2014-2015 Essentialis and Foundation for Prader-Willi Research (Kimonis PI). A Dose Titration Study of Diazoxide Choline Controlled-Release (DCCR) Tablet in Patients with Prader-Willi syndrome (PWS) with a Double-Blind, Placebo-Controlled, Randomized Withdrawal Extension 2014-2015 R56/NIAMS, National Institute of Health (PI Kimonis). Translational Studies of Lipidomics-Associated Signaling Pathways in VCP Disease 2014-2015 UC Irvine-Children’s Hospital of Orange County (Kimonis and Schwartz) CHOC Children’s–UC Irvine Collaborative Study of a Novel Treatment of Angelman Syndrome. 2015-2016 A Phase 2, Randomized, Double-Blind, Placebo-controlled Pilot Study to Assess the Effects of RM-493, a Melanocortin 4 Receptor (MC4R) Agonist, in Obese Subjects with Prader-Willi Syndrome (PWS) on Safety, Weight Reduction, and Food-Related Behaviors. Rhythm Pharmaceutical 2015-2018 Safety and Effectiveness of resistance exercise training in patients with late onset Pompe disease-a pilot study. Sanofi Pharmaceutical 2015-2019 The Inclusion Body Myopathy Research Fund. Identification of the Gene in Familial Inclusion Body Myopathy. 2016-2017 Multi Investigator Faculty Research Grant The Academic Senate Council on Research, Computing and Libraries (CORCL). Project Title: Flavaglines as Novel Therapy for Neuromuscular Degenerative Disorders. 2016-2018 The Inclusion Body Myopathy Research Fund. Preclinical Studies in HSPB8 associated Familial Inclusion Body Myopathy. 2018-2019 The Inclusion Body Myopathy Research Fund. Preclinical Studies in HSPB8 associated Familial Inclusion Body Myopathy. 2017-2018 Volo Foundation. Preclinical Studies in HSPB8 associated Familial Inclusion Body Myopathy. 2015- present Preclinical Studies in NUBPL mitochondrial Complex 1 disease. Spooner Girls Foundation. 4/1/15- present. 2017-present A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta
2017- 2018 2018-2020 2018-2019 2018-2020 2019-2021 Multi Investigator Faculty Research Grant The Academic Senate: Council on Research, Computing and Libraries (CORCL). Project: Glycogen synthase antisense oligonucleotide treatment in a mouse model of Pompe disease 2017 Helen Walker Research Grant for Pompe Disease. Eighth annual AMDA Research Grant. Antisense oligonucleotide treatment for Pompe disease ICTS Pilot Grant. Phase I Study of CB5083 in Patients with VCP Inclusion Body Myopathy. Preclinical Studies for Myopathy and ALS with VCP inhibitor CB5083. Muscular Dystrophy Association Preclinical Studies in Myopathy and ALS with VCP inhibitor CB5083. National Institute of Health (9th percentile)
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 Centers
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG)
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