MichaelB.BoberMDPhD
Medical Genetics • Wilmington, DEClinical Genetics, Clinical Molecular Genetics
Professor, Pediatrics, Jefferson Medical College-Thomas Jefferson University
Dr. Bober is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
- Connect with colleagues in the same hospital or clinic.
- Read the latest clinical news, personalized to your specialty.
Office
A.I. Dupont Hospital For Children
1600 Rockland Road
Wilmington, DE 19803Phone+1 302-651-5916Fax+1 302-651-5033
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
DE State Medical License 2005 - 2025
FL State Medical License 2017 - 2025
OH State Medical License 2014 - 2025
NY State Medical License 2020 - 2024
PA State Medical License 2005 - 2024
MD State Medical License 2001 - 2022
TX State Medical License 2003 - 2005- 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
- Join now to see all
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
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Start of enrollment: 2012 Apr 01
- A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Start of enrollment: 2014 Sep 01
- Join now to see all
Publications & Presentations
PubMed
- 159 citationsMutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndromeLouise S. Bicknell, Sarah R. Walker, Anna Klingseisen, Tom Stiff, Andrea Leitch
Nature Genetics. 2011-04-01 - 76 citationsMutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J. Reynolds, Louise S. Bicknell, Paula Carroll, Martin R. Higgs, Ranad Shaheen
Nature Genetics. 2017-04-01 - 68 citationsGGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P. Adam, Michele G. Mehaffey
American Journal of Human Genetics. 2019-01-03
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
- Join now to see all
Professional Memberships
- Fellow
- American College of Medical GeneticsMember
- Member
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence:
