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- Michael B. Bober, MD, PhD
Nemours Children's Hospital, Delaware
1600 Rockland Road
Wilmington,
DE
19803
Education & Training
Fellowship
Medical and Molecular Genetics - Johns Hopkins University Program, 2001
Residency
- Pediatrics - Tulane University School of Medicine, 2003
- Medical Genetics - Johns Hopkins Hospital, 2000
Internship Residency
Pediatrics - Tulane University School of Medicine, 1998
Board Certifications
- American Board of Pediatrics/General Pediatrics
- American Board of Medical Genetics and Genomics/Clinical Genetics and Genomics
- American Board of Medical Genetics and Genomics/Clinical Molecular Genetics and Genomics
Genetics
- Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
View Full Publication - Villegas, M. A., Okenfuss, E., Savarirayan, R., White, K., Hoover-Fong, J., Bober, M. B., & Legare, J. M. (2022). Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. Neurosurgery Clinics of North America, 33(1), 7-15. doi:10.1016/j.nec.2021.09.002
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
- Legare, J. M., Pauli, R. M., Hecht, J. T., Bober, M. B., Smid, C. J., Modaff, P., & Hashmi, S. S. (2021). CLARITY: Co-occurrences in achondroplasia:�craniosynostosis, seizures, and decreased risk of diabetes mellitus. American Journal of Medical Genetics, Part A, 185(4), 1168-1174. doi:10.1002/ajmg.a.62096
View Full Publication - Averill, L. W., Kecskemethy, H. H., Theroux, M. C., Mackenzie, W. G., Pizarro, C., Bober, M. B., & Tomatsu, S. (2021). Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatric Radiology, 51(7), 1202-1213. doi:10.1007/s00247-020-04946-0
View Full Publication - Hoover-Fong, J. E., Alade, A. Y., Hashmi, S. S., Hecht, J. T., Legare, J. M., Little, M. E., & Bober, M. B. (2021). Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genetics in Medicine, 23(8), 1498-1505. doi:10.1038/s41436-021-01165-2
View Full Publication - Legare, J. M., Liu, C., Pauli, R. M., Alade, A. Y., Hashmi, S. S., Campbell, J. W., & Bober, M. B. (2021). Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers. Journal of Neurosurgery: Pediatrics, 28(2), 229-235. doi:10.3171/2020.12.PEDS20715
View Full Publication - Devin, C. L., Sagalow, E., Penikis, A., McGreal, C. M., Bober, M. B., & Berman, L. (2021). Long-term vascular access for infants with moderate to severe osteogenesis imperfecta. Pediatric Surgery International, 37(11), 1621-1625. doi:10.1007/s00383-021-04975-2
View Full Publication - Savarirayan, R., Tunkel, D. E., Sterni, L. M., Bober, M. B., Cho, T.-J., Goldberg, M. J., & on behalf of the Skeletal Dysplasia Management Consortium. (2021). Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01678-8
View Full Publication - Duker, A. L., Kinderman, D., Jordan, C., Niiler, T., Baker-Smith, C. M., Thompson, L., & Bober, M. B. (2021). Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01852-y
View Full Publication - Savarirayan, R., Tofts, L., Irving, M., Wilcox, W. R., Bacino, C. A., Hoover-Fong, J., & Day, J. R. S. (2021). Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genetics in Medicine, 23(12), 2443-2447. doi:10.1038/s41436-021-01287-7
View Full Publication - Hoover-Fong, J. E., Schulze, K. J., Alade, A. Y., Bober, M. B., Gough, E., Hashmi, S. S., & McGready, J. (2021). Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study:�a multi-center retrospective cohort study of achondroplasia in the US. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-02141-4
- Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
- Tunkel, D. E., Gough, E., Bober, M. B., Hashmi, S. S., Hecht, J. T., Legare, J. M., & Hoover-Fong, J. E. (2021). Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study. Laryngoscope. doi:10.1002/lary.29915
- Pargas, C., Franzone, J. M., Rogers, K. J., Artinian, F., Santana, A., Shah, S. A., & Bober, M. B. (2020). Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5. Bone Reports, 13. doi:10.1016/j.bonr.2020.100735
- Ferriero, K., Shah, B., Yan, Y., Khatri, S., Caccamese, J., Napoli, J. A., & Crane, J. L. (2020). Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw. Frontiers in Pediatrics, 8. doi:10.3389/fped.2020.00515
- Savarirayan, R., Tofts, L., Irving, M., Wilcox, W., Bacino, C. A., Hoover-Fong, J., & Day, J. (2020). Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. The Lancet, 396(10252), 684-692. doi:10.1016/S0140-6736(20)31541-5
View Full Publication - Ferreira, C. R., Niiler, T., Duker, A. L., Jackson, A. P., & Bober, M. B. (2020). Growth in individuals with Saul-Wilson syndrome. American Journal of Medical Genetics, Part A, 182(9), 2110-2116. doi:10.1002/ajmg.a.61754
View Full Publication - White, K. K., White, K. K., Bober, M. B., Cho, T.-J., Goldberg, M. J., Goldberg, M. J., & Savarirayan, R. (2020). Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet Journal of Rare Diseases, 15(1). doi:10.1186/s13023-020-01415-7
View Full Publication - Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., & Bober, M. B. (2020). Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine, 22(5), 857-866. doi:10.1038/s41436-019-0737-1
View Full Publication - Machol, K., Hadley, T. D., Schmidt, J., Cuthbertson, D., Traboulsi, H., Silva, R. C., & Members of the BBD Consortium. (2020). Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. American Journal of Medical Genetics, Part A, 182(4), 697-704. doi:10.1002/ajmg.a.61464
View Full Publication - Duker, A. L., Niiler, T., Kinderman, D., Schouten, M., Poll-The, B. T., Braverman, N., & Bober, M. B. (2020). Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. American Journal of Medical Genetics, Part A, 182(3), 579-583. doi:10.1002/ajmg.a.61413
View Full Publication - Murali, C. N., Cuthbertson, D., Slater, B., Nguyen, D., Turner, A., Harris, G., & Members of the BBD Consortium. (2020). Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genetics in Medicine, 22(3), 581-589. doi:10.1038/s41436-019-0688-6
View Full Publication - Hoover-Fong, J., Alade, A. Y., Ain, M., Berkowitz, I., Bober, M., Carter, E., & McGready, J. (2020). Blood pressure in adults with short stature skeletal dysplasias. American Journal of Medical Genetics, Part A, 182(1), 150-161. doi:10.1002/ajmg.a.61402
View Full Publication - Retrouvey, J.-M., Taqi, D., Tamimi, F., Dagdeviren, D., Glorieux, F. H., Lee, B., & Members of the BBD Consortium. (2019). Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. European Journal of Medical Genetics, 62(12). doi:10.1016/j.ejmg.2018.12.011
View Full Publication - Kruger, K. M., Caudill, A., Rodriguez Celin, M., Nagamani, S. C. S., Shapiro, J. R., Steiner, R. D., & Harris, G. F. (2019). Mobility in osteogenesis imperfecta: a multicenter North American study. Genetics in Medicine, 21(10), 2311-2318. doi:10.1038/s41436-019-0491-4
View Full Publication - Abousamra, O., Kandula, V., Duker, A. L., Rogers, K. J., Bober, M. B., & Mackenzie, W. G. (2019). Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. Journal of Pediatric Orthopaedics, 39(9), E680-E686. doi:10.1097/BPO.0000000000001014
View Full Publication - Savarirayan, R., Bompadre, V., Bober, M. B., Cho, T.-J., Goldberg, M. J., Hoover-Fong, J., & on behalf of the Skeletal Dysplasia Management Consortium. (2019). Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in Medicine, 21(9), 2070-2080. doi:10.1038/s41436-019-0446-9
View Full Publication - Jennings, S. E., Ditro, C. P., Bober, M. B., Mackenzie, W. G., Rogers, K. J., Conway, L., & Duker, A. L. (2019). Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Quality of Life Research, 28(6), 1457-1464. doi:10.1007/s11136-019-02102-2
View Full Publication - Bayhan, I. A., Abousamra, O., Rogers, K. J., Bober, M. B., Miller, F., & Mackenzie, W. G. (2019). Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. Journal of Pediatric Orthopaedics, 39(6), 282-288. doi:10.1097/BPO.0000000000000945
View Full Publication - Bains, J. S., Carter, E. M., Citron, K. P., Boskey, A. L., Shapiro, J. R., Steiner, R. D., & Members of the BBD Consortium. (2019). A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. JBMR Plus, 3(5). doi:10.1002/jbm4.10118
- Jain, M., Tam, A., Shapiro, J. R., Steiner, R. D., Smith, P. A., Bober, M. B., & Members of the Brittle Bone Disorders Consortium. (2019). Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genetics in Medicine, 21(2), 275-283. doi:10.1038/s41436-018-0045-1
View Full Publication - LaCroix, A. J., Stabley, D., Sahraoui, R., Adam, M. P., Mehaffey, M., Kernan, K., & University of Washington Center for Mendelian Genomics. (2019). GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics, 104(1), 35-44. doi:10.1016/j.ajhg.2018.11.005
View Full Publication - Cologne, A., Benoit-Pilven, C., Besson, A., Putoux, A., Campan-Fournier, A., Bober, M. B., & Lacroix, V. (2019). New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA, 25(9), 1130-1149. doi:10.1261/rna.071423.119
View Full Publication - Tarnauskaite, Z., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., & Reijns, M. A. M. (2019). Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human Mutation, 40(8), 1063-1070. doi:10.1002/humu.23776
View Full Publication - Logan, C. V., Murray, J. E., Parry, D. A., Robertson, A., Bellelli, R., Tarnauskaite, & SGP Consortium. (2018). DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. American Journal of Human Genetics, 103(6), 1038-1044. doi:10.1016/j.ajhg.2018.10.024
View Full Publication - Lorenzo-Betancor, O., Blackburn, P. R., Edwards, E., Vazquez-Do-campo, R., Klee, E. W., Labbe, C., & Ross, O. A. (2018). PCNT point mutations and familial intracranial Aneurysms. Neurology, 91(23), E2170-E2181. doi:10.1212/WNL.0000000000006614
View Full Publication - Savarirayan, R., Rossiter, J. P., Hoover-Fong, J. E., Irving, M., Bompadre, V., Goldberg, M. J., & Skeletal Dysplasia Management Consortium. (2018). Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics and Gynecology, 219(6), 545-562. doi:10.1016/j.ajog.2018.07.017
View Full Publication - Tam, A., Chen, S., Schauer, E., Grafe, I., Bandi, V., Shapiro, J. R., & Members of the Brittle Bone Disorders Consortium. (2018). A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clinical Genetics, 94(6), 502-511. doi:10.1111/cge.13440
View Full Publication - Santana, A., Franzone, J. M., McGreal, C. M., Kruse, R. W., & Bober, M. B. (2018). A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations. Bone Reports, 9, 132-135. doi:10.1016/j.bonr.2018.09.002
- Hashmi, S. S., Gamble, C., Hoover-Fong, J., Alade, A. Y., Pauli, R. M., Modaff, P., & Hecht, J. T. (2018). Multicenter study of mortality in achondroplasia. American Journal of Medical Genetics, Part A, 176(11), 2359-2364. doi:10.1002/ajmg.a.40528
View Full Publication - Ferreira, C. R., Xia, Z.-J., Clement, A., Parry, D. A., Davids, M., Taylan, F., & Scottish Genome Partnership. (2018). A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics, 103(4), 553-567. doi:10.1016/j.ajhg.2018.09.003
View Full Publication - Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T., & Bober, M. (2018). The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. American Journal of Medical Genetics, Part A, 176(2), 465-469. doi:10.1002/ajmg.a.38581
View Full Publication - Duker, A. L., Niiler, T., Eldridge, G., Brereton, N. H., Braverman, N. E., & Bober, M. B. (2017). Growth charts for individuals with rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 173(1), 108-113. doi:10.1002/ajmg.a.37961
View Full Publication - Franzone, J. M., Bober, M. B., Rogers, K. J., McGreal, C. M., & Kruse, R. W. (2017). Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: Revision rate and effect on fracture rate. Journal of Children's Orthopaedics, 11(3), 185-190. doi:10.1302/1863-2548.11.160214
- del Pilar Duque Orozco, M., Record, N. C., Rogers, K. J., Bober, M. B., Mackenzie, W. G., & Atanda, A., Jr. (2017). Arthroscopic knee anatomy in young achondroplasia patients. Journal of Children's Orthopaedics, 11(3), 169-174. doi:10.1302/1863-2548.11.160168
- Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., & Stewart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi:10.1038/ng.3790
View Full Publication - Bober, M. B., & Jackson, A. P. (2017b). Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Current Osteoporosis Reports, 15(2), 61-69. doi:10.1007/s11914-017-0348-1
View Full Publication - Theroux, M. C., Lopez, M., Olszewsky, P. J., DiCindio, S., Arai, L., Ditro, C., & Mackenzie, W. G. (2017). Metatropic dysplasia:�a skeletal dysplasia with challenging airway and other anesthetic concerns. Paediatric Anaesthesia, 27(6), 596-603. doi:10.1111/pan.13101
View Full Publication - Bober, M. B., & Jackson, A. P. (2017a). Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review (Current Osteoporosis Reports, (2017), 15, 2, (61-69), 10.1007/s11914-017-0348-1). Current Osteoporosis Reports, 15(4), 399. doi:10.1007/s11914-017-0389-5
View Full Publication - White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Cho, T.-J., Hoover-Fong, J. E., & On behalf of the Skeletal Dysplasia Management Consortium. (2017). Best practices in peri-operative management of patients with skeletal dysplasias. American Journal of Medical Genetics, Part A, 173(10), 2584-2595. doi:10.1002/ajmg.a.38357
View Full Publication - Duker, A. L., Niiler, T., & Bober, M. B. (2017). Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. American Journal of Medical Genetics, Part A, 173(11), 3067-3069. doi:10.1002/ajmg.a.38467
View Full Publication - Hurd, L. M., Thacker, M. M., Okenfuss, E., Duker, A. L., Lou, Y., Harty, M. P., & Bober, M. B. (2017). Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. American Journal of Medical Genetics, Part A, 173(12), 3205-3210. doi:10.1002/ajmg.a.38498
View Full Publication - White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Campbell, J. W., Cho, T.-J., & Savarirayan, R. (2016). Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. American Journal of Medical Genetics, Part A, 170(1), 42-51. doi:10.1002/ajmg.a.37394
View Full Publication - Duker, A. L., Eldridge, G., Braverman, N. E., & Bober, M. B. (2016). Congenital heart defects common in rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 170(1), 270-272. doi:10.1002/ajmg.a.37404
View Full Publication - Atanda, A., Jr, Wallace, M., Bober, M. B., & Mackenzie, W. (2016). Arthroscopic treatment of discoid lateral meniscus tears in children with achondroplasia. Journal of Pediatric Orthopaedics, 36(5), e55-e58. doi:10.1097/BPO.0000000000000622
View Full Publication - Tomatsu, S., Averill, L. W., Sawamoto, K., Mackenzie, W. G., Bober, M. B., Pizarro, C., & Theroux, M. (2016). Obstructive airway in Morquio A syndrome, the past, the present and the future. Molecular Genetics and Metabolism, 117(2), 150-156. doi:10.1016/j.ymgme.2015.09.007
View Full Publication - White, K. K., Savarirayan, R., Goldberg, M. J., Mackenzie, W., Bompadre, V., Bober, M. B., & Blackledge, M. (2016). Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?" American Journal of Medical Genetics, Part A, 170(4), 1101-1103. doi:10.1002/ajmg.a.37546
View Full Publication - Bober, M. B., Duker, A. L., Carney, M., Ditro, C. P., Rogers, K., & Mackenzie, W. G. (2016). Metatropic dysplasia is associated with increased fracture risk. American Journal of Medical Genetics, Part A, 170(5), 1373-1376. doi:10.1002/ajmg.a.37576
View Full Publication - Bellur, S., Jain, M., Cuthbertson, D., Krakow, D., Shapiro, J. R., Steiner, R. D., & Nagamani, S. C. (2016). Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genetics in Medicine, 18(6), 570-576. doi:10.1038/gim.2015.131
View Full Publication - Martin, C.-A., Murray, J. E., Carroll, P., Leitch, A., Mackenzie, K. J., Halachev, M., & The Deciphering Developmental Disorders Study. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes and Development, 30(19), 2158-2172. doi:10.1101/gad.286351.116
View Full Publication - Teo, M., Johnson, J. N., Bell-Stephens, T. E., Marks, M. P., Do, H. M., Dodd, R. L., & Steinberg, G. K. (2016). Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. Journal of Neurosurgery: Pediatrics, 18(6), 717-723. doi:10.3171/2016.6.PEDS16243
View Full Publication - Kubaski, F., Tomatsu, S., Patel, P., Shimada, T., Xie, L., Yasuda, E., & Shaffer, T. H. (2015). Non-invasive pulmonary function test on Morquio patients. Molecular Genetics and Metabolism, 115(4), 186-192. doi:10.1016/j.ymgme.2015.06.007
View Full Publication - Akyol, Y., Averill, L. W., Atanda, A., Kecskemethy, H. H., Bober, M. B., & Mackenzie, W. G. (2015). Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatric Radiology, 45(6), 888-895. doi:10.1007/s00247-014-3228-1
View Full Publication - Riley, P., Jr, Weiner, D. S., Leighley, B., Jonah, D., Morton, D. H., Strauss, K. A., & Dicintio, M. S. (2015). Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. Journal of Children's Orthopaedics, 9(2), 145-152. doi:10.1007/s11832-015-0646-z
- Tomatsu, S., Sawamoto, K., Almeciga-Diaz, C. J., Shimada, T., Bober, M. B., Chinen, Y., & Orii, T. (2015). Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with morquio a syndrome. Drug Design, Development and Therapy, 9, 1937-1953. doi:10.2147/DDDT.S68562
View Full Publication - Olney, R. C., Prickett, T. C. R., Espiner, E. A., Mackenzie, W. G., Duker, A. L., Ditro, C., & Bober, M. B. (2015). C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Journal of Clinical Endocrinology and Metabolism, 100(2), E355-E359. doi:10.1210/jc.2014-2814
View Full Publication - Hendriksz, C. J., Giugliani, R., Harmatz, P., Mengel, E., Guffon, N., Valayannopoulos, V., & STRIVE Investigators. (2015). Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Molecular Genetics and Metabolism, 114(2), 178-185. doi:10.1016/j.ymgme.2014.08.012
View Full Publication - Patel, R. M., Nagamani, S. C. S., Cuthbertson, D., Campeau, P. M., Krischer, J. P., Shapiro, J. R., & Sutton, V. R. (2015). A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clinical Genetics, 87(2), 133-140. doi:10.1111/cge.12409
View Full Publication - Harley, M. E., Murina, O., Leitch, A., Higgs, M. R., Bicknell, L. S., Yigit, G., & Jackson, A. P. (2015). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genetics, 48(1), 36-43. doi:10.1038/ng.3451
View Full Publication - Tomatsu, S., Sawamoto, K., Shimada, T., Bober, M. B., Kubaski, F., Yasuda, E., & Orii, T. (2015). Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): Effect and limitations. Expert Opinion on Orphan Drugs, 3(11), 1279-1290. doi:10.1517/21678707.2015.1086640
- Hurd, L., Kirwin, S. M., Boggs, M., Mackenzie, W. G., Bober, M. B., Funanage, V. L., & Duncan, R. L. (2015). A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. American Journal of Medical Genetics, Part A, 167(10), 2286-2293. doi:10.1002/ajmg.a.37182
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