MichaelB.BoberMDPhD

Medical Genetics • Wilmington, DE

Clinical Genetics, Clinical Molecular Genetics

Professor, Pediatrics, Jefferson Medical College-Thomas Jefferson University

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Office
A.I. Dupont Hospital For Children
1600 Rockland Road
Wilmington, DE 19803
Phone+1 302-651-5916

Fax+1 302-651-5033
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Education & Training

Johns Hopkins UniversityResidency, Medical Genetics and Genomics, 1998 - 2001
Johns Hopkins UniversityFellowship, Medical Genetics and Genomics, 2001
Tulane UniversityResidency, Pediatrics, 1996 - 1998
Tulane University School of MedicineClass of 1996

Certifications & Licensure

OH State Medical License 2014 - 2025
DE State Medical License 2005 - 2025
FL State Medical License 2017 - 2025
PA State Medical License 2005 - 2024
NY State Medical License 2020 - 2024
MD State Medical License 2001 - 2022
TX State Medical License 2003 - 2005
LA State Medical License 1997 - 2003
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
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Awards, Honors, & Recognition

Fellow American College of Medical Genetic and Genomics, 2003
Fellow (FAAP) American Academy of Pediatrics

Clinical Trials

C-Type Natriuretic Peptide and Achondroplasia Start of enrollment: 2012 Feb 01
Completed
A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Start of enrollment: 2012 Apr 01
Completed
A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Start of enrollment: 2014 Sep 01
Completed
Primordial Dwarfism Registry Start of enrollment: 2008 Mar 11
Recruiting
Rhizomelic Chondrodysplasia Punctata Registry Start of enrollment: 2013 May 17
Recruiting
RCDP Natural History Study Start of enrollment: 2019 Jun 18
Recruiting
A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia Start of enrollment: 2019 Jun 19
Completed
Achondroplasia Natural History Multicenter Clinical Study Start of enrollment: 2016 Apr 01
Enrolling by invitation
A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia Start of enrollment: 2020 Jun 24
Active, not recruiting
Phase 2
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH) Start of enrollment: 2019 Aug 12
Recruiting
Study of Infigratinib in Children With Achondroplasia Start of enrollment: 2020 Mar 10
Recruiting
Phase 2
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Publications & Presentations

PubMed

1 citations
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Nickolas J Nahm, W G Stuart Mackenzie, William G Mackenzie, Ethan Gough, S Shahrukh Hashmi, Jacqueline T Hecht, Janet M Legare, Mary Ellen Little, Peggy Modaff, Richar...> ;Orphanet Journal of Rare Diseases. 2023 Jun 6
2 citations
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
Maria Rapoport, Michael B Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Boot...> ;Orphanet Journal of Rare Diseases. 2023 Feb 22
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa König, Mic...> ;International Journal of Molecular Sciences. 2023 Jan 18
4 citations
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, John Philips, Natalie Owen, Carlos A Bacino, Louise Tofts, Joel Charrow, Lynda E Polgre...> ;Genetics in Medicine. 2022 Dec 1
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
John J Mitchell, Barbara K Burton, Michael B Bober, Philippe M Campeau, Shelda Cohen, Sara Dosenovic, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David Hin...> ;Molecular Genetics and Metabolism. 2022 Aug 30
3 citations
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
Ricki S Carroll, Robert C Olney, Angela L Duker, Ryan F Coghlan, William G Mackenzie, Colleen P Ditro, Cassondra J Brown, David A O'Connell, William A Horton, Brian Jo...> ;Calcified Tissue International. 2022 Jul 1
1 citations
Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta.
Jeanne M Franzone, Maegen J Wallace, Kenneth J Rogers, Elizabeth K Strudthoff, Michael B Bober, Richard W Kruse, Darko Anticevic> ;Journal of Pediatric Orthopedics. 2022 Jul 1
10 citations
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Sant...> ;Therapeutic Advances in Musculoskeletal Disease. 2022 Jan 1
1 citations
Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.
Melissa A. Villegas, Ericka Okenfuss, Ravi Savarirayan, Klane K. White, Julie Hoover-Fong, Michael B. Bober, Angela L. Duker, Janet M. Legare> ;Neurosurgery Clinics of North America. 2022 Jan 1
11 citations
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospe...
Julie E Hoover-Fong, Kerry J Schulze, Adekemi Y Alade, Michael B Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T Hecht, Janet M Legare, Mary Ellen Little, Peggy Mo...> ;Orphanet Journal of Rare Diseases. 2021 Dec 23
1 citations
Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.
Ricki S Carroll, Cristina McGreal, Jeanne M Franzone, Richard W Kruse, Catherine Preedy, Joanna Costa, Daniel R Dirnberger, Michael B Bober, Donenfeld, P.> ;Paediatric & Neonatal Pain. 2021 Dec 1
33 citations
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner A.R. Baratela, James A. Betts, Michael B. Bober, Silvio Boero, Jenna W. Briddell, ...> ;Nature Reviews. Endocrinology. 2021 Nov 26
2 citations
Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.
David E. Tunkel, Ethan K. Gough, Michael B. Bober, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David R...> ;The Laryngoscope. 2021 Oct 28
2 citations
Long-term vascular access for infants with moderate to severe osteogenesis imperfecta.
Courtney L. Devin, Emily Sagalow, Annalise Penikis, Cristina M. McGreal, Michael B. Bober, Loren Berman> ;Pediatric Surgery International. 2021 Aug 10
28 citations
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Genetics in Medicine. 2021 Aug 2
8 citations
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers
Janet M. Legare, Chengxin Liu, Richard M. Pauli, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jeffrey W. Campbell, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David R...> ;Journal of Neurosurgery. Pediatrics. 2021 Jun 4
5 citations
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki Carroll, Michael B. Bober> ;Orphanet Journal of Rare Diseases. 2021 May 20
24 citations
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Julie Hoover-Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richa...> ;Genetics in Medicine. 2021 May 18
8 citations
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography
Lauren W. Averill, Heidi H. Kecskemethy, Mary C. Theroux, William G. Mackenzie, Christian Pizarro, Michael B. Bober, Colleen Ditro, Shunji Tomatsu> ;Pediatric Radiology. 2021 Feb 20
6 citations
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Janet M. Legare, Richard M. Pauli, Jacqueline T. Hecht, Michael B. Bober, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David Rodriguez-Buritica, Maria Elena Serna, A...> ;American Journal of Medical Genetics. Part A. 2021 Jan 26
13 citations
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. M...> ;Orphanet Journal of Rare Diseases. 2021 Jan 14
2 citations
Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.
Carlos Pargas, Jeanne M. Franzone, Kenneth J. Rogers, Frank Artinian, Adolfredo Santana, Suken A. Shah, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober> ;Bone Reports. 2020 Nov 21
12 citations
Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw.
Kristen Ferriero, Biraj Shah, Yun Yan, Surya Khatri, John F. Caccamese, Joseph A. Napoli, Michael B. Bober, Janet L. Crane> ;Frontiers in Pediatrics. 2020 Sep 18
65 citations
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Lancet. 2020 Sep 5
1 citations
Growth in individuals with Saul-Wilson syndrome
Carlos Ferreira, Tim Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober> ;American Journal of Medical Genetics. Part A. 2020 Jul 11
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Press Mentions

International Comprehensive Consensus Issued on Management of AchondroplasiaDecember 14th, 2021
Look-Back Study Charts 60 Years of Treatments, Health Characteristics Among People with Dwarfism in Effort to Improve Their Quality of LifeJune 21st, 2021
Prevalence of Mental Health Conditions and Pain in Adults with Skeletal DysplasiaJanuary 14th, 2020
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Professional Memberships

American Academy of Pediatrics - AAP
Fellow
American College of Medical Genetics
Member
American Medical Association - AMA
Member