Michael Bober, MD, PhD

Michael Bober, MD, PhD

Genetic Consultant, Skeletal Dysplasia Center


Skeletal Dysplasia


Skeletal Dysplasia Center

Medical School

Tulane University, School of Medicine, New Orleans, LA


Pediatrics: Tulane University School of Medicine


Molecular genetics: Johns Hopkins University School of Medicine

Board Certifications

American Board of Medical Genetics
American Board of Pediatrics


Maternal Mixed Connective Tissue Disease and Offspring with Chondrodysplasia Punctata. SW Schulz, MB Bober, C Johnson, N Braverman and Sergio A. Jimenez. Semin Arthritis Rheum. 2010 Apr; 39(5):410-6.

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPDII): Expanding the Vascular Phenotype. MB Bober, N Kham, L Kaplan, K Lewis, JA Feinstein, CI Scott and G Steinberg. Am J Med Genet A. 2010 Apr;152A(4):960-5.

Fibrochondrogenesis Results From Mutations in the COL11A1 Gene of Type XI Collagen. SW Tompson, CA Bacino, NP Safina, MB Bober, V Proud, T Funari, L Nevarez, L Ala-Kokko, WR Wilcox, DR Eyre, D Krakow and DH Cohn. Am J Hum Genet. 2010 Nov 12; 87(5):708-12. Epub 2010 Oct 28.

Mutations in the Pre-Replication Complex Cause Meier-Gorlin Syndrome. LS Bicknell, EMHF Bongers, A Leitch, S Brown, J Schoots, S Aftimos, M Bober, P Brown, H van Bokhoven, J Dean, M Feingold, A Fryer, LL Hoefsloot, N Kau, NVAM Knoers, James MacKenzie, JM Opitz, P Sarda, A Ross, K Temple, A Toutain, C Wise, M Wright and AP Jackson. Nat Genet. 2011 Feb 27;43(4):356-9.

Mutations in ORC1L Encoding the Largest Subunit of the Origin Recognition Complex Cause Microcephalic Primordial Dwarfism. LS Bicknell, S Walker, A Klingseissen, T Stiff, A Leitch, C Kerzendorfer, CA Martin, P Yegati, N Al Sanna, M Bober, D Johnson, C Wise, M O’Driscoll, A Jackson, P Jeggo. Nat Genet. 2011 Feb 27;43(4):350-5.

Genetic Defects in Human Pericentrin are Associated with Severe Insulin Resistance and Diabetes Mellitus. I Huang-Doran, LS Bicknell, FM Finucane, N Rocha, KM Porter, YCL Tung, F Szekeres, A Krook , JJ Nolan, M O'Driscoll, M Bober, S O'Rahilly, AP Jackson, RK Semple; for the Majewski Osteodysplastic Primordial Dwarfism Study Group. Diabetes. 2011 Mar; 60(3):925-35. Epub 2011 Jan 26.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, E Tubacher, F Senni, MB Bober, S Nampoothiri, PS Jouk, E Steichen, S Berland, A Toutain, CA Wise, D Sanlaville, F Rousseacu, F Clerget-Darpoux, AL Leutenegger. Science. 2011 April 8; 332(6026): 240-3.

Vitamin D Status in Pediatric Patients with Osteogenesis Imperfecta. M Kadhim, L Holmes, Jr, MB Bober, KJ Rogers, L Davey, and R Kruse. Pediatr Therapeut. 2011 1:103.

Enzyme Replacement Therapy In Life-Threatening Hypophosphatasia. MP Whyte, CR Greenberg, NJ Salman, MB Bober, WH McAlister, D Wenkert, BJ Van Sickle, JH Simmons, TS Edgar, ML Bauer, MA Hamdan, N Bishop, RE Lutz, M McGinn, S Craig, JN Moore, JW Taylor, RH Cleveland, WR Cranley, R Lim, TD Thacher, JE Mayhew, M Downs, JL Millan, AM Skrinar, P Crine and H Landy. N Eng J Med. 2012; 366:904-13.

The Lower Extremity in Morquio syndrome. AA Dhawale, MM Thacker, MV Belthur, K Rogers, MB Bober and WG Mackenzie. J Pediatr Orthop. 2012 Jul;32(5):534-40.

Meier-Gorlin syndrome: Genotype-Phenotype Studies in 35 Individuals With Mutations in the Pre-Replication Complex and Ten Individuals with a Clinical Diagnosis of Meier-Gorlin Syndrome. SA de Munnik, LS Bicknell, S Aftimos, JY Al-Aama, Y van Bever, MB Bober, J Clayton-Smith, AY Edrees, M Feingold, A Fryer, JM van Hagen, RC Hennekam, MCE Jansweijer, D Johnson, SG Kant, JM Opitz, AR Ramadevi, W Reardon, A Ross, P Sarda, CTRM Schrander-Stumpel, J Schoots, IKTemple, PA Terhal, A Toutain, CA Wise, M Wright, DL Skidmore, ME Samuels, LH Hoefsloot, NVAM Knoers, HG Brunner, AP Jackson and EMHF Bongers. Eur J Hum Genet. 2012 Jun;20(6):598-606. Epub 2012 Feb 15.

A Newly Recognized Syndrome with Characteristic Facial Features, Skeletal Dysplasia and Developmental Delay. W Baratela, MB Bober, E Okenfuss, G Tiller, C Ditro, A Duker, W Mackenzie, R Lachman and CI Scott Jr. Am J Med Genet A. 2012 Aug;158A(8):1815-22.Epub 2012 Jun 18.

Achondroplasia-Hypochondroplasia Complex and Abnormal Pulmonary Anatomy. MB Bober, M Taylor, R Heinle and W Mackenzie. Am J Med Genet A. 2012 Sept; 158A(9): 2336–2341. Epub 2012 Aug 7.

Respiratory Mechanics in an Infant with Perinatal Lethal
Hypophosphatasia and Human Recombinant Enzyme Replacement Therapy: A Case Report. ME Rodriguez, MB Bober, L Davey, A Zamora, AB Li Puma, A Chidekel and TH Shaffer. Pediatr Pulmonol. 2012 Sep; 47(9):917-22. Epub 2012 Feb 10.

Growth in Individuals with Majewski Osteodysplastic Primordial Dwarfism Type II Caused by Pericentrin Mutations. MB Bober, T Niiler, A Duker, T Ketterer, JE Murray, ME Harley, S Alvi, C Rustad, LS Bicknell, C Wise and AP Jackson. Am J Med Genet A. 2012 Nov; 158A(11):2719-25. Epub 2012 Jul 20.

Meier-Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism Disorder. SA de Munnik, BJ Otten, J Schoots, LS Bicknell, S Aftimos, JY Al-Aama, Y van Bever, MB Bober, GF Borm, J Clayton-Smith, AY Edrees, M Feingold, A Fryer, JM van Hagen, RC Hennekam, MCE Jansweijer, D Johnson, SG Kant, JM Opitz, AR Ramadevi, W Reardon, A Ross, P Sarda, CTRM Schrander-Stumpel, AE Sluiter, IK Temple, PA Terhal, A Toutain, CA Wise, M Wright, DL Skidmore, ME Samuels, LH Hoefsloot, NVAM Knoers, HG Brunner, AP Jackson and EMHF Bongers. Am J Med Genet A. 2012 Nov; 158A(11):2733-42. Epub 2012 Sep 28.

Flexion-Extension Cervical Spine MRI in Children with Skeletal Dysplasia – Is it Safe and Effective? WG Mackenzie, AA Dhawale, M Demczko, C Ditro, KJ Rogers, MB Bober, JW Campbell and LE Grissom. J Ped Ortho. 2013 Jan; 33(1):91-8.

Mucopolysaccharidosis IVA: Correlation Between Genotype, Phenotype and Keratan Sulfate Level. VC Dũng, S Tomatsu, AM Montaño, G Gottesman, MB Bober, W Mackenzie, M Maeda, GA Mitchell, Y Suzuki, T Orii. Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. Epub 2013 Jun 26.

Growth Sparing Spinal Instrumentation in Skeletal Dysplasia. AF Karatas, O Dede, K Rogers, C Ditro, L Holmes, MB Bober , SA Shah, WG Mackenzie. Spine (Phila Pa 1976). 2013 Nov 15;38(24):E1517-26.
Extreme growth failure is a common presentation of Ligase IV deficiency. JE Murray, LS Bicknell, AL Duker, M Van Kogelenberg, D Wieczorek, H Kayserili, C Wise, J Brandon, T Kleefstra, A Warris, M van der Flier, S Bamforth, K Doonanco, LAdes, AMa, M Field, D Johnson, G Woods, R Gatti, M Hurles, MB Bober, B Wollnik AP Jackson. Hum Mutat. 2014 Jan;35(1):76-85. Epub 2013 Nov 8.

Cervicothoracic Myelopathy in Children With Morquio Syndrome A: A Report of 4 Cases. Baratela WA, Bober MB, Thacker MM, Belthur MV, Oto M, Rogers KJ, Mackenzie WG. J Pediatr Orthop. 2014 Mar, 34(2):223-8. 2013 Oct 3. Epub ahead of print.

Keutel Syndrome: Report of 2 New MGP Mutations and
Discussion of Clinical Overlaps with Arylsulfatase E Deficiency and Relapsing Polychondritis. KN Weaver, M El Hallek, RJ Hopkin, K Sund, D Del Gaudio, A Yuksel, MB Bober, J Kim, SA Boyadjiev. Am J Med Genet A. 2014 Apr;164(4):1062-8. Epub 2014 Jan 23.

Surgical Treatment of Scoliosis in Osteogenesis Imperfecta with Cement Augmented Pedicle Screw Instrumentation. G Yilmaz, S Hwang, M Oto, KJ Rogers, MB Bober, PJ Cahill and SA Shah. J Spinal Disorders and Techniques. J Spinal Disord Tech. 2014 May;27(3):174-180. 2012 June 8. Epub ahead of print.

Jaffe-Campanacci Syndrome, Revisited: A Manifestation of Neurofibromatosis Type 1, Coincidence, or a Real Disorder? DR Stewart, H Brems, AG Gomes, SL Ruppert, T Callens, J Williams, K Claes, M Wallace, MB Bober, R Hachen, A Lin, M McDonald, S Melancon, J Ortenberg, J Ranells, I Samson, RA Saul, J Shen, E Siqveland, H Radtke, M Williams, E Legius, L Messiaen. Genet Med. 2014 Jun;16(6):448-59. Epub 2013 Nov 14.

Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II. AF Karatas, MB Bober, K Rogers, AL Duker, C Ditro, WG Mackenzie. J Pediatr Orthop. 2014 Sep;34(6):585-90. Epub 2014 Apr 3.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. CJ Hendriks, R Giugliani, P Harmatz, E Mengel, N Guffon, V Valayannopoulos, R Parini, D Hughes, GM Pastores, HA Lau, MD Al-Sayed, J Raiman ; STRIVE Investigators (MB Bober et al.), K Yang, M Mealiffe, C Haller. Mol Genet Metab. 2014 Sep 6. S1096-7192(14)00277-7. Epub 2014 Aug 12.

A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation. CT Chen, H Hehnly, Q Yu, D Farkas, G Zheng, SD Redick, HF Hung, R Samtani, A Jurczyk, S Akbarian, C Wise, A Jackson, M Bober, Y Guo, C Lo, S Doxsey. Curr Biol. 2014 Oct 6; 24(19): 2327-34. Epub 2014 Sep 9.

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. CJ Hendriksz CJ, B Burton, TR Fleming, P Harmatz, D Hughes, SAJones, SP Lin, E Mengel, M Scarpa, V Valayannopoulos, R Giugliani. STRIVE Investigators (MB Bober et al.), P Slasor, D Lounsbury, W Dummer. J Inherit Metab Dis. 2014 Nov; 37(6):979-90. Epub 2014 May 9.

Cross-sectional Multicenter Study of Osteogenesis Imperfecta in North America – Results from the Linked Clinical Research Centers. RM Patel, SCS Nagamani, D Cuthbertson, PM Campeau, JP Krischer, JR Shapiro, RD Steiner, PA Smith, MB Bober, PH Byers, J Marini, FH Glorieux, F Rauch, BH Lee, T Smith and VR Sutton. Clin Genet. 2015 Feb; 87(2): 133-40. Epub 2014 Apr 22.

C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia and thanatophoric dysplasia. RC Olney, TCR Prickett EA Espiner, WG Mackenzie, AL Duker, C Ditro, B Zabel, T Hasegawa, H Kitoh, A Aylsworth and MB Bober. JCEM. 2015 Feb; 100(2):E355-9. Epub 2014 Nov 11.

Magnetic Resonance Evaluation of the Knee in Children and Adolescents with Achondroplasia. Y Akyol, LW Averill, A Atanda, H Kecskemethy, MB Bober and WG Mackenzie. Pediatric Radiology. Epub 2014 Nov 29.
Cartilage Hair Hypoplasia: Characteristics and Orthopaedic Manifestations. P Riley Jr., DS Weiner, B Leighley, D Jonah, DH Morton, KA Strauss, MB Bober and MS Dicintio. J Child Orthop. Epub 2015 March 13.

Review: Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Patients with Morquio A Syndrome. S Tomatsu, K Sawamoto, CJ Alméciga-Díaz, T Shimada, MB Bober, Y Chinen, H Yabe, AM Montaño, R Giugliani, F Kubaski, E Yasuda, A Rodríguez-López, AJ Espejo-Mojica, OF Sánchez, RW Mason, LA Barrera, WG Mackenzie and T Orii. J Drug Design Development and Therapy. Epub 2015 March 15.

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