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Office
101 The City Dr S Zc4482
Division of Genetics and Metabolism
Orange, CA 92868Phone+1 714-456-5792Fax+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
- Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Start of enrollment: 2007 Nov 15
- Oxytocin Trial in Prader-Willi Syndrome Start of enrollment: 2015 Mar 01
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Publications & Presentations
PubMed
- Retraction Note: Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy.Angèle Nalbandian, Arif A Khan, Ruchi Srivastava, Katrina J Llewellyn, Baichang Tan
Inflammation. 2025-01-18 - Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun
Genome Medicine. 2024-12-18 - Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.Tiffany Schmok, Abhilasha Surampalli, Manaswitha Khare, Setarah Zandihaghighi, Rounak Baghbaninogourani
American Journal of Medical Genetics. Part A. 2024-10-01
Journal Articles
- Splice-Break: Exploiting an RNA-Seq Splice Junction Algorithm to Discover Mitochondrial DNA Deletion Breakpoints and Analyses of Psychiatric DisordersFrancis 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 OutcomesVirginia Kimonis, Merlin G Butler, American Journal of Medical Genetics Part A
- Phenotypic Diversity of Patients Diagnosed with VACTERL AssociationVirginia Kimonis, Bryan Lemieux, American Journal of Medical Genetics Part A
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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
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