Thomas Jefferson University

Michael Bober

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
Address833 Chestnut Street
Philadelphia PA 19107
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Hori Y, McDonald TC, Thornley P, Almeida da Silva LC, Kaymaz B, Rogers KJ, Yorgova PK, Bober MB, Carroll R, Kruse RW, Franzone JM, Shah SA. Midterm Outcomes of Multimodal Approach to Treating Severe Scoliosis in Patients With Osteogenesis Imperfecta. J Am Acad Orthop Surg. 2024 Jul 10. PMID: 38996209.
      Citations:    
    2. Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Cole FS, Rios J, Bellen HJ. Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities. Genet Med. 2024 Jun 03; 101174. PMID: 38847193.
      Citations:    
    3. Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2024 Apr 30; 15(1):3655. PMID: 38688929.
      Citations:    
    4. Qi Y, Chan ML, Mould DR, Larimore K, Fisheleva E, Cherukuri A, Day J, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Bober MB, Henshaw J. Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model. Clin Pharmacokinet. 2024 May; 63(5):707-719. PMID: 38649657.
      Citations:    
    5. Westerheim I, Hart T, van Welzenis T, Wekre LL, Semler O, Raggio C, Bober MB, Rapoport M, Prince S, Rauch F. The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers. Orphanet J Rare Dis. 2024 Mar 21; 19(1):128. PMID: 38515144.
      Citations:    
    6. Savarirayan R, Wilcox WR, Harmatz P, Phillips J, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2023 Nov 17. PMID: 37984383.
      Citations:    
    7. O'Connell DA, Carroll RS, Duker AL, Schelhaas AJ, Postell MM, Fawcett PT, Bober MB. Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia. JBMR Plus. 2023 Dec; 7(12):e10816. PMID: 38130766.
      Citations:    
    8. Gourgas O, Lemire G, Eaton AL, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2023 Nov 03; 14(1):7054. PMID: 37923733.
      Citations:    
    9. Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 Oct 31. PMID: 37924809.
      Citations:    
    10. Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. Adv Ther. 2023 Oct 26. PMID: 37882884.
      Citations:    
    11. Savarirayan R, Hoernschemeyer DG, Ljungberg M, Zarate YA, Bacino CA, Bober MB, Legare JM, H?gler W, Quattrin T, Abuzzahab MJ, Hofman PL, White KK, Ma NS, Schnabel D, Sousa SB, Mao M, Smith A, Chakraborty M, Giwa A, Winding B, Volck B, Shu AD, McDonnell C. Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial. EClinicalMedicine. 2023 Nov; 65:102258. PMID: 37823031.
      Citations:    
    12. Campbell J, Legare JM, Piatt J, Gough E, Pauli RM, Hashmi SS, Rodriguez-Buritica DF, Modaff P, Little ME, Serna ME, Smid CJ, Dujmusic L, Hecht JT, Hoover-Fong JE, Bober MB. Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers. J Neurosurg Pediatr. 2023 Sep 15; 1-8. PMID: 37877951.
      Citations:    
    13. Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonaf? L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Identification of potential non-invasive biomarkers in diastrophic dysplasia. Bone. 2023 Jul 16; 175:116838. PMID: 37454964.
      Citations:    
    14. Nahm NJ, Mackenzie WGS, Mackenzie WG, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid CJ, Hoover-Fong J, Bober MB. Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers. Orphanet J Rare Dis. 2023 06 06; 18(1):139. PMID: 37280669.
      Citations:    
    15. Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG. Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. Anesth Analg. 2023 Nov 01; 137(5):1075-1083. PMID: 37862598.
      Citations:    
    16. Brar BK, Bober MB, Gough E, Hashmi SS, Hecht JT, Dujmusic L, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Legare JM, Hoover-Fong JE. Route of Delivery Does Not Impact Postnatal Surgical Morbidity in Pregnancies Affected By Fetal Achondroplasia. Genet Med. 2023 Apr 12; 100845. PMID: 37061874.
      Citations:    
    17. Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, van Welzenis T, Mistry A, Clancy J, Booth L, Prince S, Semler O. The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. Orphanet J Rare Dis. 2023 Feb 22; 18(1):34. PMID: 36814274.
      Citations:    
    18. Sirohi N, Duker AL, Bober MB, DeFelice ML. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. J Clin Immunol. 2023 Feb 18. PMID: 36807220.
      Citations:    
    19. Dorninger F, Kiss A, Rothauer P, Stiglbauer-Tscholakoff A, Kummer S, Fallatah W, Perera-Gonzalez M, Hamza O, K?nig T, Bober MB, Cavall?-Garrido T, Braverman NE, Forss-Petter S, Pifl C, Bauer J, Bittner RE, Helbich TH, Podesser BK, Todt H, Berger J. Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency. Int J Mol Sci. 2023 Jan 18; 24(3). PMID: 36768204.
      Citations:    
    20. Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Growth parameters in children with achondroplasia: A?7-year, prospective, multinational, observational study. Genet Med. 2022 12; 24(12):2444-2452. PMID: 36107167.
      Citations:    
    21. Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):164-172. PMID: 36087504.
      Citations:    
    22. Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Ther Adv Musculoskelet Dis. 2022; 14:1759720X221084848. PMID: 35342457.
      Citations:    
    23. Franzone JM, Wallace MJ, Rogers KJ, Strudthoff EK, Bober MB, Kruse RW, Anticevic D. Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta. J Pediatr Orthop. 2022 Jul 01; 42(6):e656-e660. PMID: 35275892.
      Citations:    
    24. Carroll RS, Olney RC, Duker AL, Coghlan RF, Mackenzie WG, Ditro CP, Brown CJ, O'Connell DA, Horton WA, Johnstone B, Espiner EA, Prickett TCR, Bober MB. Collagen X Marker Levels are Decreased in Individuals with Achondroplasia. Calcif Tissue Int. 2022 07; 111(1):66-72. PMID: 35275235.
      Citations:    
    25. Hoover-Fong JE, Schulze KJ, Alade AY, Bober MB, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Liu C, McGready J. 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 J Rare Dis. 2021 12 23; 16(1):522. PMID: 34949201.
      Citations:    
    26. Carroll RS, Donenfeld P, McGreal C, Franzone JM, Kruse RW, Preedy C, Costa J, Dirnberger DR, Bober MB. Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period. Paediatr Neonatal Pain. 2021 Dec; 3(4):156-162. PMID: 35548555.
      Citations:    
    27. Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagen?s L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat Rev Endocrinol. 2022 03; 18(3):173-189. PMID: 34837063.
      Citations:    
    28. Tunkel DE, Gough E, Bober MB, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica D, Serna ME, Smid CJ, Hoover-Fong JE. Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study. Laryngoscope. 2022 08; 132(8):1548-1554. PMID: 34708868.
      Citations:    
    29. Villegas MA, Okenfuss E, Savarirayan R, White K, Hoover-Fong J, Bober MB, Duker A, Legare JM. Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. Neurosurg Clin N Am. 2022 Jan; 33(1):7-15. PMID: 34801144.
      Citations:    
    30. Devin CL, Sagalow E, Penikis A, McGreal CM, Bober MB, Berman L. Long-term vascular access for infants with moderate to severe osteogenesis imperfecta. Pediatr Surg Int. 2021 Nov; 37(11):1621-1625. PMID: 34374819.
      Citations:    
    31. Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med. 2021 12; 23(12):2443-2447. PMID: 34341520.
      Citations:    
    32. Legare JM, Liu C, Pauli RM, Alade AY, Hashmi SS, Campbell JW, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Hecht JT, Hoover-Fong JE, Bober MB. Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers. J Neurosurg Pediatr. 2021 Jun 04; 1-7. PMID: 34087800.
      Citations:    
    33. Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021 05 20; 16(1):231. PMID: 34016138.
      Citations:    
    34. Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med. 2021 08; 23(8):1498-1505. PMID: 34006999.
      Citations:    
    35. Averill LW, Kecskemethy HH, Theroux MC, Mackenzie WG, Pizarro C, Bober MB, Ditro CP, Tomatsu S. Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatr Radiol. 2021 Jun; 51(7):1202-1213. PMID: 33608742.
      Citations:    
    36. Legare JM, Pauli RM, Hecht JT, Bober MB, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Alade AY, Liu C, Hoover-Fong JE, Hashmi SS. CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. Am J Med Genet A. 2021 04; 185(4):1168-1174. PMID: 33496070.
      Citations:    
    37. Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, White KK. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet J Rare Dis. 2021 01 14; 16(1):31. PMID: 33446226.
      Citations:    
    38. Pargas C, Franzone JM, Rogers KJ, Artinian F, Santana A, Shah SA, McGreal CM, Kruse RW, Bober MB. Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5. Bone Rep. 2020 Dec; 13:100735. PMID: 33304945.
      Citations:    
    39. Ferriero K, Shah B, Yan Y, Khatri S, Caccamese J, Napoli JA, Bober MB, Crane JL. Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw. Front Pediatr. 2020; 8:515. PMID: 33042901.
      Citations:    
    40. Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 09 05; 396(10252):684-692. PMID: 32891212.
      Citations:    
    41. Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Growth in individuals with Saul-Wilson syndrome. Am J Med Genet A. 2020 09; 182(9):2110-2116. PMID: 32652690.
      Citations:    
    42. White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis. 2020 06 24; 15(1):161. PMID: 32580780.
      Citations:    
    43. Carroll RS, Duker AL, Schelhaas AJ, Little ME, Miller EG, Bober MB. Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor. Palliat Med Rep. 2020; 1(1):32-39. PMID: 34223453.
      Citations:    
    44. Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020 05; 22(5):857-866. PMID: 31949312.
      Citations:    
    45. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Nagamani SCS, Raggio C. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704. PMID: 31876392.
      Citations:    
    46. Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. Am J Med Genet A. 2020 03; 182(3):579-583. PMID: 31769196.
      Citations:    
    47. Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, Hecht J, Hoerschemeyer D, Krakow D, MacCarrick G, Mackenzie WG, Mendoza R, Okenfuss E, Popplewell D, Raggio C, Schulze K, McGready J. Blood pressure in adults with short stature skeletal dysplasias. Am J Med Genet A. 2020 01; 182(1):150-161. PMID: 31729121.
      Citations:    
    48. Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG. Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. J Pediatr Orthop. 2019 Oct; 39(9):e680-e686. PMID: 31503224.
      Citations:    
    49. Fredette ME, Lombardi KC, Duker AL, Buck CO, Phornphutkul C, Bober MB, Quintos JB. NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS. AACE Clin Case Rep. 2020 Jan-Feb; 6(1):e1-e4. PMID: 32524007.
      Citations:    
    50. Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG. Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. J Pediatr Orthop. 2019 Jul; 39(6):282-288. PMID: 31169747.
      Citations:    
    51. Tarnauskaite ?, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Hum Mutat. 2019 08; 40(8):1063-1070. PMID: 31045292.
      Citations:    
    52. Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA. 2019 09; 25(9):1130-1149. PMID: 31175170.
      Citations:    
    53. Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318. PMID: 30918359.
      Citations:    
    54. Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med. 2019 09; 21(9):2070-2080. PMID: 30696995.
      Citations:    
    55. Jennings SE, Ditro CP, Bober MB, Mackenzie WG, Rogers KJ, Conway L, Duker AL. Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Qual Life Res. 2019 Jun; 28(6):1457-1464. PMID: 30637564.
      Citations:    
    56. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B, Nagamani SC, Raggio CL. 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. 2019 May; 3(5):e10118. PMID: 31131341.
      Citations:    
    57. LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, Mefford HC, Sol-Church K. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet. 2019 01 03; 104(1):35-44. PMID: 30554721.
      Citations:    
    58. Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite ?, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 12 06; 103(6):1038-1044. PMID: 30503519.
      Citations:    
    59. Lorenzo-Betancor O, Blackburn PR, Edwards E, V?zquez-do-Campo R, Klee EW, Labb? C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. PCNT point mutations and familial intracranial aneurysms. Neurology. 2018 12 04; 91(23):e2170-e2181. PMID: 30413633.
      Citations:    
    60. Ferreira CR, Xia ZJ, Cl?ment A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-S?nchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsj? A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567. PMID: 30290151.
      Citations:    
    61. Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT. Multicenter study of mortality in achondroplasia. Am J Med Genet A. 2018 11; 176(11):2359-2364. PMID: 30276962.
      Citations:    
    62. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B, Rush ET, Nagamani SCS. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet. 2018 12; 94(6):502-511. PMID: 30152014.
      Citations:    
    63. Santana A, Franzone JM, McGreal CM, Kruse RW, Bober MB. A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations. Bone Rep. 2018 Dec; 9:132-135. PMID: 30246063.
      Citations:    
    64. Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. Am J Obstet Gynecol. 2018 12; 219(6):545-562. PMID: 30048634.
      Citations:    
    65. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR, Nagamani SCS. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283. PMID: 29970925.
      Citations:    
    66. Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018 02; 176(2):465-469. PMID: 29265708.
      Citations:    
    67. Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB. Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. Am J Med Genet A. 2017 Dec; 173(12):3205-3210. PMID: 29080333.
      Citations:    
    68. Duker AL, Niiler T, Bober MB. Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. Am J Med Genet A. 2017 11; 173(11):3067-3069. PMID: 28940990.
      Citations:    
    69. White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC. Best practices in peri-operative management of patients with skeletal dysplasias. Am J Med Genet A. 2017 Oct; 173(10):2584-2595. PMID: 28763154.
      Citations:    
    70. Bober MB, Jackson AP. Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep. 2017 08; 15(4):399. PMID: 28712007.
      Citations:    
    71. Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP. Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2017 05 01; 31(9):953. PMID: 28566537.
      Citations:    
    72. Bober MB, Jackson AP. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep. 2017 04; 15(2):61-69. PMID: 28409412.
      Citations:    
    73. Theroux MC, Lopez M, Olszewsky PJ, DiCindio S, Arai L, Ditro C, Bober MB, Olla OO, Uejima T, West DW, Mackenzie WG. Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. Paediatr Anaesth. 2017 Jun; 27(6):596-603. PMID: 28321993.
      Citations:    
    74. Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaite ?, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altm?ller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, N?rnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017 Apr; 49(4):537-549. PMID: 28191891.
      Citations:    
    75. Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 01; 30(19):2158-2172. PMID: 27737959.
      Citations:    
    76. Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2017 Jan; 173(1):108-113. PMID: 27616591.
      Citations:    
    77. Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. J Neurosurg Pediatr. 2016 Dec; 25(6):717-723. PMID: 27611897.
      Citations:    
    78. Atanda A, Wallace M, Bober MB, Mackenzie W. Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. J Pediatr Orthop. 2016 Jul-Aug; 36(5):e55-8. PMID: 27276636.
      Citations:    
    79. Bober MB, Duker AL, Carney M, Ditro CP, Rogers K, Mackenzie WG. Metatropic dysplasia is associated with increased fracture risk. Am J Med Genet A. 2016 May; 170A(5):1373-6. PMID: 26823048.
      Citations:    
    80. White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. 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?". Am J Med Genet A. 2016 Apr; 170A(4):1101-3. PMID: 26754314.
      Citations:    
    81. Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altm?ller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, N?rnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan; 48(1):36-43. PMID: 26595769.
      Citations:    
    82. Tomatsu S, Sawamoto K, Shimada T, Bober MB, Kubaski F, Yasuda E, Mason RW, Khan S, Alm?ciga-D?az CJ, Barrera LA, Mackenzie WG, Orii T. Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. Expert Opin Orphan Drugs. 2015 Nov 01; 3(11):1279-1290. PMID: 26973801.
      Citations:    
    83. Duker AL, Eldridge G, Braverman NE, Bober MB. Congenital heart defects common in rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2016 Jan; 170A(1):270-2. PMID: 26408048.
      Citations:    
    84. White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A. 2016 Jan; 170A(1):42-51. PMID: 26394886.
      Citations:    
    85. Tomatsu S, Averill LW, Sawamoto K, Mackenzie WG, Bober MB, Pizarro C, Goff CJ, Xie L, Orii T, Theroux M. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2016 Feb; 117(2):150-6. PMID: 26432669.
      Citations:    
    86. Hurd L, Kirwin SM, Boggs M, Mackenzie WG, Bober MB, Funanage VL, Duncan RL. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. Am J Med Genet A. 2015 Oct; 167(10):2286-93. PMID: 26249260.
      Citations:    
    87. Kubaski F, Tomatsu S, Patel P, Shimada T, Xie L, Yasuda E, Mason R, Mackenzie WG, Theroux M, Bober MB, Oldham HM, Orii T, Shaffer TH. Non-invasive pulmonary function test on Morquio patients. Mol Genet Metab. 2015 Aug; 115(4):186-92. PMID: 26116954.
      Citations:    
    88. Tomatsu S, Sawamoto K, Alm?ciga-D?az CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Monta?o AM, Giugliani R, Kubaski F, Yasuda E, Rodr?guez-L?pez A, Espejo-Mojica AJ, S?nchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug Des Devel Ther. 2015; 9:1937-53. PMID: 25897204.
      Citations:    
    89. Riley P, Weiner DS, Leighley B, Jonah D, Morton DH, Strauss KA, Bober MB, Dicintio MS. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. J Child Orthop. 2015 Apr; 9(2):145-52. PMID: 25764362.
      Citations:    
    90. Akyol Y, Averill LW, Atanda A, Kecskemethy HH, Bober MB, Mackenzie WG. Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol. 2015 Jun; 45(6):888-95. PMID: 25432442.
      Citations:    
    91. Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab. 2015 Feb; 100(2):E355-9. PMID: 25387261.
      Citations:    
    92. Chen CT, Hehnly H, Yu Q, Farkas D, Zheng G, Redick SD, Hung HF, Samtani R, Jurczyk A, Akbarian S, Wise C, Jackson A, Bober M, Guo Y, Lo C, Doxsey S. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol. 2014 Oct 06; 24(19):2327-2334. PMID: 25220058.
      Citations:    
    93. Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG. Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop. 2014 Sep; 34(6):585-90. PMID: 24705347.
      Citations:    
    94. Yilmaz G, Hwang S, Oto M, Kruse R, Rogers KJ, Bober MB, Cahill PJ, Shah SA. Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation. J Spinal Disord Tech. 2014 May; 27(3):174-80. PMID: 24945295.
      Citations:    
    95. Baratela WA, Bober MB, Thacker MM, Belthur MV, Oto M, Rogers KJ, Mackenzie WG. Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases. J Pediatr Orthop. 2014 Mar; 34(2):223-8. PMID: 24096444.
      Citations:    
    96. Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8. PMID: 24458983.
      Citations:    
    97. Karatas AF, Dede O, Rogers K, Ditro CP, Holmes L, Bober M, Shah SA, Mackenzie WG. Growth-sparing spinal instrumentation in skeletal dysplasia. Spine (Phila Pa 1976). 2013 Nov 15; 38(24):E1517-26. PMID: 23921322.
      Citations:    
    98. Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med. 2014 Jun; 16(6):448-59. PMID: 24232412.
      Citations:    
    99. Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Ad?s L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, N?rnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014 Jan; 35(1):76-85. PMID: 24123394.
      Citations:    
    100. Dung VC, Tomatsu S, Monta?o AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):129-38. PMID: 23876334.
      Citations:    
    101. Mackenzie WG, Dhawale AA, Demczko MM, Ditro C, Rogers KJ, Bober MB, Campbell JW, Grissom LE. Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective? J Pediatr Orthop. 2013 Jan; 33(1):91-8. PMID: 23232386.
      Citations:    
    102. de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012 Nov; 158A(11):2733-42. PMID: 23023959.
      Citations:    
    103. Bober MB, Taylor M, Heinle R, Mackenzie W. Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. Am J Med Genet A. 2012 Sep; 158A(9):2336-41. PMID: 22888019.
      Citations:    
    104. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A. 2012 Nov; 158A(11):2719-25. PMID: 22821869.
      Citations:    
    105. Dhawale AA, Thacker MM, Belthur MV, Rogers K, Bober MB, Mackenzie WG. The lower extremity in Morquio syndrome. J Pediatr Orthop. 2012 Jul-Aug; 32(5):534-40. PMID: 22706472.
      Citations:    
    106. Baratela WA, Bober MB, Tiller GE, Okenfuss E, Ditro C, Duker A, Krakow D, Stabley DL, Sol-Church K, Mackenzie W, Lachman R, Scott CI. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. Am J Med Genet A. 2012 Aug; 158A(8):1815-22. PMID: 22711505.
      Citations:    
    107. Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Mill?n JL, Skrinar AM, Crine P, Landy H. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012 Mar 08; 366(10):904-13. PMID: 22397652.
      Citations:    
    108. de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012 Jun; 20(6):598-606. PMID: 22333897.
      Citations:    
    109. Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol. 2012 Sep; 47(9):917-22. PMID: 22328548.
      Citations:    
    110. Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011 Apr 08; 332(6026):240-3. PMID: 21474761.
      Citations:    
    111. Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27; 43(4):356-9. PMID: 21358632.
      Citations:    
    112. Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27; 43(4):350-5. PMID: 21358633.
      Citations:    
    113. Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes. 2011 Mar; 60(3):925-35. PMID: 21270239.
      Citations:    
    114. Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12; 87(5):708-12. PMID: 21035103.
      Citations:    
    115. Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI, Steinberg GK. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010 Apr; 152A(4):960-5. PMID: 20358609.
      Citations:    
    116. Schulz SW, Bober M, Johnson C, Braverman N, Jimenez SA. Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. Semin Arthritis Rheum. 2010 Apr; 39(5):410-6. PMID: 19110299.
      Citations:    
    117. Bober M, Johnson C, Nicholson L, Scott C. Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants. Am J Med Genet A. 2008 Sep 01; 146A(17):2291-2. PMID: 18666221.
      Citations:    
    118. Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A. 2008 Apr 15; 146A(8):997-1008. PMID: 18348268.
      Citations:    
    119. Gripp KW, Johnson C, Scott CI, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. Am J Med Genet A. 2008 Feb 15; 146A(4):468-73. PMID: 18203204.
      Citations:    
    120. Bober MB, Winslow R. Developing computational resources in cardiac gene expression. Methods Mol Biol. 2007; 366:253-63. PMID: 17568129.
      Citations:    
    121. Bober M, Wiehe K, Yung C, Onal Suzek T, Lin M, Baumgartner W, Winslow R. CaGE: cardiac gene expression knowledgebase. Bioinformatics. 2002 Jul; 18(7):1013-4. PMID: 12117801.
      Citations:    
    Bober's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (415)
    Explore
    _
    Co-Authors (33)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _