VirginiaEKimonisMD

Medical Genetics • Orange, CA

Clinical Biochemical Genetics, Clinical Genetics

Professor, Pediatrics, University of California, Irvine, School of Medicine

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Office
101 The City Dr S Zc4482
Division of Genetics and Metabolism
Orange, CA 92868
Phone+1 714-456-5792

Fax+1 714-456-5330

Education & Training

Massachusetts General HospitalResidency, Pediatrics, 1990 - 1992
University of Southampton Faculty of MedicineClass of 1976

Certifications & Licensure

CA State Medical License 2006 - 2025
IL State Medical License 1995 - 2008
MA State Medical License 2001 - 2007
MD State Medical License 1992 - 1996
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity Start of enrollment: 2006 Sep 01
Completed
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Start of enrollment: 2007 Nov 15
Recruiting
Oxytocin Trial in Prader-Willi Syndrome Start of enrollment: 2015 Mar 01
Completed
Phase 1
Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Start of enrollment: 2014 Apr 01
Completed
Phase 1, Phase 2
Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Start of enrollment: 2015 Oct 01
Completed
Not Applicable
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Publications & Presentations

PubMed

21 citations
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
Henri Leinonen, Cheng Cheng, Marja Pitkänen, Christopher L. Sander, Jianye Zhang
The Journal of Pharmacology and Experimental Therapeutics. 2021-04-30
994 citations
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Hong Joo Kim, Nam Chul Kim, Yong Dong Wang, Emily A. Scarborough, Jennifer Moore
Nature. 2013-03-28
22 citations
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Olivia J. Veatch, Beth A. Malow, Hye-Seung Lee, A. Knight, Judy O. Barrish
Pediatric Neurology. 2021-10-01

Journal Articles

Splice-Break: Exploiting an RNA-Seq Splice Junction Algorithm to Discover Mitochondrial DNA Deletion Breakpoints and Analyses of Psychiatric Disorders
Francis S Lee, Alan F Schatzberg, Jack D Barchas, Virginia Kimonis, Elizabeth C Chao, Nucleic Acids Research
Newborn Screening for Prader–Willi Syndrome Is Feasible: Early Diagnosis for Better Outcomes
Virginia Kimonis, Merlin G Butler, American Journal of Medical Genetics Part A
Phenotypic Diversity of Patients Diagnosed with VACTERL Association
Virginia Kimonis, Bryan Lemieux, American Journal of Medical Genetics Part A
Genotype‐Phenotype Study in Patients with Valosin‐Containing Protein Mutations Associated with Multisystem Proteinopathy
V Kimonis, T Mozaffar, C Smith, A K Wang, Clinical Genetics
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Press Mentions

CHOC, UCI Health to Hold Symposium for Rare Disease Community on March 11February 22nd, 2022
UCI and CHOC Join New NORD Rare Disease Centers of Excellence NetworkNovember 4th, 2021
New Research Model to Aid Search for Degenerative Disease CuresOctober 2nd, 2012

Grant Support

Inclusion Body Myopathy Assopciated With Apaget Disease Of Bone And FrontotemporNational Center For Research Resources2010
Characterization Of Familial Myopathy, Paget Disease Of BoneNational Center For Research Resources2010
Prader-Willi Syndrome And Early-Onset Morbid Obesity Natural History Clinical PRNational Center For Research Resources2008–2010
Translational Studies In VCP Inclusion Body Myopathy With Paget Disease Of BoneNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2009
Genetics Of CraniosynostosisNational Center For Research Resources2009
Genetic Basis Of Myopathy With Paget Disease Of BoneNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2007–2008
Folic Acid And Betaine For Angelman SyndromeNational Center For Research Resources2004–2007
Clinical Genetics Of CraniosynostosisNational Center For Research Resources2006
Genetic Basis Of Myopathy With Paget Disease Of BoneNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2004–2006
Characterization Of Familial Myopathy &Paget DiseaseNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2003–2005
Gene Causing Paget &Limb-Girdle Muscular DystrophyNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2001–2003
Clinical &Molecular Analysis Of Neuromuscular DisordersNational Institute Of Neurological Disorders And Stroke2001
Gene Causing Paget &Limb-Girdle Muscular DystrophyNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2001