Trained in pediatrics, clinical genetics, and clinical molecular genetics. Certified in pediatrics and clinical genetics. Have 20+ years experience in clinical practice. Specialize in connective tissue disorders including Ehlers-Danlos syndromes, Marfan syndrome, and bone fragility disorders. Have about 14 years experience in medicolegal cases. involving approximately 40-50 cases. Case log available upon request.
Genetics
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Your Messages Your ContactsPeyton Manning Children's Hospital Center - Indianapolis, IN, 46260
Clinical Geneticist
physician
Advocate Medical Group - Park Ridge, IL, USA
Clinical Geneticist
physician
Cincinnati Children's Hospital Medical Center - Cincinnati, OH, USA
Clinical Geneticist
physician
Indiana University School of Medicine - Indianapolis, IN, USA
MD
George Washinton University - Washington, DC, USA
PhD
Purude University - W. Lafayette, IN, USA
BS in Engineering
American Board of Medical Genetics (Clinical Genetics)
Sep 2005 - Present
American Board of Medical Genetics (Clinical Molecular Genetics)
Sep 2007 - Present
American Board of Pediatrics
Oct 2003 - Present
Chapter- Repeated Joint Dislocation and Easy Bruising"
Published 2023
Wiley (Book title: \"Symptomatic\")
Pediatric joint hypermobility- a diagnostic framework and narrative review
Published 2023
Journal: Orphan Journal of Rare Diseases 2023;18:104
Health supervision for children and adolescents with Marfan syndrome
Published 2023
Journal: Pediatrics 2023:151:e202306145
The role of functional disability and social support in the psychological outcomes for individuals with pediatric hypermobile Ehlers-Danlos syndrome.
Published 2022
Journal: Journal of Child Health Care 2022
Ehlers-Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities
Published 2021
Journal: American Journal of Medical Genetics 2021;187:413-415
Chapter: "Ehlers-Danlos Syndromes"
Published 2021
Wiley (Book: Management of Genetic Syndromes)
More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea disease
Published 2021
Journal: Human Mutation 2021;42:711-720.
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome
Published 2020
Journal: Journal of Child Health Care 2020;24:444-457.
Symptomatic joint hypermobility
Published 2020
Journal: Best Practices in Reserach and Clinical Rheumatology
His life was lost but his heart still beats:in honor of children harmed by child abuse
Published 2019
Journal: American Journal of Medical Genetics 2019:1-4
Reposnse to letter, broken bones, and irresponsible testimony: enourgh is enough already: the flawed Ehlers-Danlos syndrome infant fragility theory should not rule
Published 2019
Jourmal: American Journal of Medical Genetics 2019;179:2335-2337
Symptomatic joint hypermobility: the hypermobility type of Ehlers-Danlos syndrome and the hypermobility spectrum disorders.
Published 2019
Journal: Medical Clinis of North America 2019;103:1021-1023
Newborn screening for lysosomal storage disorders in Illinois: the initial 15-month experience
Published 2017
Journal: Journal of Pediatrics 2017;190:130-135
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Published 2017
Journal: Journal of Medical Genetics 2017;54:460-470
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos hypermobility type): clinical description and natural history
Published 2017
Journal: Journal of American Medical Genetics 2017;175C:48-69
The 2017 International classification of the Ehlers-Danlos syndrome
Published 2017
Journal: American Journal of Medical Genetics 2017;175C:8-26
The International Consortium on the Ehlers-Danlos Syndromes
Published 2017
Journal: American Journal of Medical Genetics 2017;175C:5-7
A framework for the classification of joint hypermobility and related conditions
Published 2017
Journal: American Journal of Medical Genetics 2017;175C:148-157.
Pain management in the Ehlers-Danlos syndromes
Published 2017
Journal: American Journal of Medical Genetics 2017;175C:212-219
Oral and mandibular manifestations in the Ehlers-Danlos syndromes
Published 2017
Journal: American Journal of Medical Genetics 2017;175C:220-225.
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype
Published 2015
Journal: Annals of Vascular Surgery 2015;29:595
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia
Published 2014
Journal: Prenatal Diagnosis 2014;34:1326-1331
Joint hypermobility and headache
Published 2014
Journal: Headache 2014;54:1412-1413
Eye, Vision, and the Ehlers-Danlos Syndrome
Published 2014
EDS-UK Information Sheet
Chapter: The Hypermobile Spine
Published 2013
Book: Basilar Impression & Craniocervical Instability
Glycogen storage disease type II (Pompe disease)
Published 2013
Book: Genereviews, National Library of Medicine
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorder
Published 2013
Journal: Journal of Allergy and Clinical Immunology 2013;132:378-386
Performance evaluation of the next-generational sequencing approach for molecular diagnosis of hereditary hearing loss
Published 2013
Otolaryngology and Head and Neck Surgery 2013;148:1007-1016
Hearing Impairment in EDS
Published 2012
Chapter: Management of Ehlers-Danlos Syndrome
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Published 2012
Chapter: Genereviews, National Library of Medicine
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome
Published 2011
Journal: Journal of Pediatrics 2011;158:826-830
Joint hypermobility syndrome: a common clinical disorder associated with migraine headache in women
Published 2011
Journal: Cephalalgia 2011;31:603-613
Craniometaphyseal dysplasia-induced hearing loss
Published 2011
Journal: Otolaryngology and Neurotology 2011;32:e9-10
Joint Hypermobility Handbook
Published 2010
Left Paw Press
Ehlers-Danlos Syndromes
Published 2010
Chapter: Management of Genetic Syndromes
Ehlers-Danlos Medical Resource Guide
Published 2010
Ehlers-Danlos National Foundation
Glycogen Storage Disease Type II (Pompe Disease)
Published 2010
Chapter: Generevies, National Library of Medicine
Fetal MRI imaging of Kniest dysplasia
Published 2010
Pediatric Radiology 2010;40:348-352
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)
Published 2009
Journal: American Journal of Medical Genetics 2009;149A:2368-2370
Ehlers-Danlos National FOundation Clinical Reference Manual: Vascular Type 2009
Published 2009
Ehlers-Danlos National Foundation
Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy
Published 2009
Journal: Journal of Pediatrics 2009;155:510-515
Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillane protocol
Published 2009
Journal: American Journal of 2009;149A:1691-1697
Issues and Management of Joint Hypermobility
Published 2008
Left Paw Press
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
Published 2007
Journal: Current Opinion in Pediatrics 2007;19:628-635
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition
Published 2007
Journal: Congenital Heart Disease 2007;2:342-346
Storage Disorders
Published 2006
Chapter: Pediatric Hematology
Epidemiology of hemimegalencephaly: a case series and review
Published 2005
Journal: American Journal of Medical Genetics 2005;139A:204-211
A genetic approach to fracture epidemiology in childhood
Published 2005
Journal: American Journal of Medical Genetics 2005;139A:38-54
Enzyme therapy in Fabry disease
Published 2004
Journal: Today\'s Therapeutic Trends 2004;22:181-200
Long-term survival in a patient with del(18)(q12.2q21.1)
Published 2003
Journal: American Journal of Medical Genetics 2003;119A:66-70
Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: clinical report and review of the natural history
Published 2003
Journal: American Journal of Medical Genetics 2003;118A:90-95
Lifetime Achievement Award- The Ehlers-Danlos Society
2017
Community Choice Award- The Ehlers-Danlos Society
2016
MVP Value Leader- Advocate Children\'s Hospital
2015
Osteogenesis Imperfecta Foundation Geisman Research Fellowship
2006
National Institutes of Health Loan Repayment Program Awadee
2004
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