Joan C Marini

Bone 2020 Jan 28;130:115047. Epub 2019 Aug 28.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

J Bone Miner Res 2019 Dec 7;34(12):2301-2310. Epub 2019 Nov 7.

Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

Am J Surg Pathol 2019 Nov;43(11):1554-1559

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Biochim Biophys Acta Mol Basis Dis 2019 Sep 2;1865(9):2210-2223. Epub 2019 May 2.

Section of Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, MD, United States of America. Electronic address:

FEBS J 2019 Aug 5;286(15):3033-3056. Epub 2019 Jul 5.

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Italy.

JBMR Plus 2019 Aug 26;3(8):e10214. Epub 2019 Jul 26.

Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

PLoS Genet 2019 06 7;15(6):e1008196. Epub 2019 Jun 7.

Oral and Craniofacial Health Sciences, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina, United States of America.

Genet Med 2019 05 1;21(5):1233-1239. Epub 2018 Oct 1.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, MD, USA.

J Bone Miner Res 2019 May 22;34(5):883-895. Epub 2019 Jan 22.

Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

J Bone Miner Res 2019 01 14;34(1):145-156. Epub 2018 Sep 14.

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.

J Bone Miner Res 2018 07 7;33(7):1272-1282. Epub 2018 May 7.

Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

Biochim Biophys Acta Mol Basis Dis 2018 May 10;1864(5 Pt A):1642-1652. Epub 2018 Feb 10.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia 27100, Italy. Electronic address:

Nat Commun 2018 04 11;9(1):1390. Epub 2018 Apr 11.

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.

J Bone Miner Res 2017 Sep 26;32(9):1884-1892. Epub 2017 Jun 26.

Shriners Hospital for Children, Montreal, Quebec, Canada.

J Proteome Res 2017 08 25;16(8):2914-2923. Epub 2017 Jul 25.

Oral and Craniofacial Health Sciences, School of Dentistry, University of North Carolina , Chapel Hill, North Carolina 27599, United States.

Nat Rev Dis Primers 2017 Aug 18;3:17052. Epub 2017 Aug 18.

Children's Hospital, University of Cologne, Cologne, Germany.

J Clin Endocrinol Metab 2017 06;102(6):2019-2028

Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham B4 6NH, United Kingdom.

Hum Mol Genet 2017 06;26(12):2207-2217

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Transl Res 2017 03 19;181:27-48. Epub 2016 Nov 19.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Md. Electronic address:

Bone 2016 12 15;93:79-85. Epub 2016 Sep 15.

University of Michigan Department of Orthopaedic Surgery, Ann Arbor, MI, United States; University of Michigan Department of Biomedical Engineering, Ann Arbor, MI, United States. Electronic address:

J Cell Sci 2016 10 22;129(19):3635-3647. Epub 2016 Aug 22.

Biochemistry and Molecular Biology, the Institute for Medical Research Israel - Canada (IMRIC), the School of Medicine of the Hebrew University of Jerusalem, Jerusalem 91120, Israel

J Clin Endocrinol Metab 2016 09 6;101(9):3516-25. Epub 2016 Jul 6.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of Wiener Gebietskrankenkasse and Allgemeine Unfallversicherungsanstalt Trauma Centre Meidling (N.F.-Z., P.R., K.K.), First Medical Department, Hanusch Hospital, 1140 Vienna, Austria; Section on Heritable Disorders of Bone (A.M.B., W.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; The Orthopaedic Research Laboratories (M.W., D.R.E.), University of Washington, Seattle, Washington 98195; Hospital for Special Surgery (E.C., G.P., C.R.), New York, New York 10021; Department of Orthopedics (T.E.H.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; Shriners Hospital for Children (P.A.S.), Chicago, Illinois 60707; and Shriners Hospital for Children and McGill University (F.H.G., F.R.), Montreal, QC H4A 0A9, Canada.

Nat Commun 2016 07 6;7:11920. Epub 2016 Jul 6.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

PLoS Genet 2016 07 21;12(7):e1006156. Epub 2016 Jul 21.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America.

Bone 2016 06 13;87:120-9. Epub 2016 Apr 13.

Weill Cornell Medical College, New York, NY, United States; Mineralized Tissues Laboratory, Hospital for Special Surgery, New York, NY, United States. Electronic address:

Lancet 2016 Apr 3;387(10028):1657-71. Epub 2015 Nov 3.

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address:

J Biol Chem 2016 Apr 2;291(18):9501-12. Epub 2016 Mar 2.

From the North Carolina Oral Health Institute, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina 27599,

Bone 2016 Mar 6;84:222-229. Epub 2016 Jan 6.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan Ann Arbor, MI, USA; Department of Biomedical Engineering, University of Michigan Ann Arbor, MI, USA. Electronic address:

Hum Mol Genet 2015 Nov 11;24(21):6118-33. Epub 2015 Aug 11.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy,

EMBO J 2015 Nov 5;34(22):2820-39. Epub 2015 Oct 5.

Biochemistry and Molecular Biology, The Institute for Medical Research Israel - Canada (IMRIC), The Hebrew University Medical School, Jerusalem, Israel

Am J Hum Genet 2015 Oct 10;97(4):521-34. Epub 2015 Sep 10.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. Electronic address:

J Clin Endocrinol Metab 2015 Feb 11;100(2):E325-32. Epub 2014 Nov 11.

Bone and Extracellular Matrix Branch (A.R., A.S.B., A.M.B., W.A.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Department of Diagnostic Radiology (S.C.H.), National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Physiology and Experimental Medicine Program (A.H.), Heart Center, Hospital for Sick Children, University of Toronto, Ontario, Canada M5S 3OA4; Division of Diagnostic Imaging (J.S.), Department of Pediatrics, and Division of Clinical and Metabolic Genetics (D.C.), Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8; and The Prenatal Diagnosis and Medical Genetics Program (D.C.), Department of Obstetrics and Gynecology, Mt Sinai Hospital, University of Toronto, Toronto, Ontario, Canada M5G 1Z5.

Bone 2015 Feb 23;71:115-23. Epub 2014 Oct 23.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, United States; Department of Biomedical Engineering, University of Michigan, Ann Arbor, MI, United States. Electronic address:

Curr Opin Pediatr 2014 Aug;26(4):500-7

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

J Bone Miner Res 2014 Jun;29(6):1402-11

PLoS Genet 2014 Jun 26;10(6):e1004465. Epub 2014 Jun 26.

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America.

Eur J Hum Genet 2014 May 11;22(5):667-74. Epub 2013 Sep 11.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.

Biomed Res Int 2013 29;2013:295812. Epub 2013 May 29.

Musculoskeletal Integrity Program, Hospital for Special Surgery, New York, NY 10021, USA.

Hum Mutat 2013 Sep 8;34(9):1279-88. Epub 2013 Jul 8.

Bone and Extracellular Matrix Branch, NICHD/NIH, Bethesda, Maryland 20892, USA.

J Clin Endocrinol Metab 2013 Aug 14;98(8):3095-103. Epub 2013 Jun 14.

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

J Bone Miner Res 2013 Jan;28(1):73-80

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan Ann Arbor, MI, USA.

J Struct Biol 2012 Dec 4;180(3):428-38. Epub 2012 Oct 4.

Department of Biomedical Engineering, Indiana University-Purdue University at Indianapolis, Indianapolis, IN, USA.

Hum Mutat 2012 Nov 16;33(11):1589-98. Epub 2012 Jul 16.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

PLoS One 2012 15;7(5):e36809. Epub 2012 May 15.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Hum Mol Genet 2012 Aug 15;21(16):3535-45. Epub 2012 May 15.

Institute of Virology, Klinikum Rechts der Isar, Munich, Germany.

J Proteomics 2012 Aug 18;75(15):4717-33. Epub 2012 Feb 18.

Functional Proteomics Lab., Department of Biotechnology, Section of Biochemistry and Molecular Biology, University of Siena, Siena, Italy.

Stem Cells 2012 Jul;30(7):1465-76

Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Via Taramelli 3/B, Pavia, Italy.

N Engl J Med 2012 Jun;366(26):2522-4

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Genet Med 2012 May 26;14(5):543-51. Epub 2012 Jan 26.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Bone 2012 Mar 20;50(3):784-91. Epub 2011 Dec 20.

Department of Mechanical Engineering, University of Michigan, Ann Arbor, MI, USA.

Hum Mutat 2011 Jun 7;32(6):598-609. Epub 2011 Apr 7.

Department of Medical Sciences, Uppsala University, Uppsala, Sweden.

Nat Rev Endocrinol 2011 Jun 14;7(9):540-57. Epub 2011 Jun 14.

Department of Biochemistry, Section of Medicine and Pharmacy, University of Pavia, Italy.

J Struct Biol 2011 Jan 7;173(1):146-52. Epub 2010 Aug 7.

Department of Chemistry, University of Michigan, Ann Arbor, MI 48109-1055, United States.

J Bone Miner Res 2010 Aug;25(8):1748-58

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

Am J Physiol Endocrinol Metab 2010 Aug 11;299(2):E189-97. Epub 2010 May 11.

Section on Cellular Neurobiology, Program on Developmental Neuroscience,Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 49 Convent Dr., Bethesda, MD 20892, USA.

J Bone Miner Res 2010 Feb;25(2):247-61

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

N Engl J Med 2010 Feb 20;362(6):521-8. Epub 2010 Jan 20.

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Hum Mol Genet 2010 Jan 21;19(2):223-34. Epub 2009 Oct 21.

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD 20892, USA.

Cell Tissue Res 2010 Jan 28;339(1):59-70. Epub 2009 Oct 28.

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD 20892, USA.

Blood 2009 Jul 4;114(2):459-68. Epub 2009 May 4.

ITB-CNR, Milan, Italy.

J Bone Miner Res 2009 May;24(5):849-59

Bone and Extracellular Matrix Branch, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.

Nat Rev Endocrinol 2009 May;5(5):241-3

J Bone Miner Res 2008 Dec;23(12):1983-94

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland 20892, USA.

Am J Med Genet A 2008 Nov;146A(21):2725-32

Bone and Extracellular Matrix Branch, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA.

J Biol Chem 2008 Jul 15;283(30):21187-97. Epub 2008 May 15.

Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

J Biol Chem 2008 Jul 16;283(28):19551-60. Epub 2008 May 16.

Max-Planck-Institut für Biochemie, Am Klopferspitz 18, 82152 Martinsried, Germany.

J Biol Chem 2008 Feb 11;283(8):4787-98. Epub 2007 Dec 11.

Section on Physical Biochemistry, Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, MD 20892, USA.

Matrix Biol 2007 Oct 27;26(8):604-14. Epub 2007 Jun 27.

Department of Biochemistry "A. Castellani", University of Pavia, Via Taramelli 3B, 27100 Pavia, Italy.

Cell Cycle 2007 Jul 18;6(14):1675-81. Epub 2007 May 18.

Bone and Extracellular Matrix Branch, The National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

Proteomics 2007 Jun;7(11):1877-91

Department of Biochemistry "A. Castellani", Section of Medicine and Pharmacy, University of Pavia, Pavia, Italy.

Hum Mutat 2007 Apr;28(4):396-405

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland 20892, USA.

Hum Mutat 2007 Mar;28(3):209-21

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA.

Nat Genet 2007 Mar 4;39(3):359-65. Epub 2007 Feb 4.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

N Engl J Med 2006 Dec;355(26):2757-64

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

J Biol Chem 2006 Mar 5;281(10):6463-70. Epub 2006 Jan 5.

Section on Physical Biochemistry, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

Nat Clin Pract Endocrinol Metab 2006 Jan;2(1):14-5

Bone and Extracellular Matrix Branch, National Institute of Child Heath and Disease, NIH, Bethesda, MD 20892, USA.

J Bone Miner Res 2005 Jun 18;20(6):977-86. Epub 2005 Jan 18.

Section on Connective Tissue Disorders, BEMB, NICHD, NIH, Bethesda, Maryland 20892, USA.

J Biol Chem 2005 May 22;280(19):19259-69. Epub 2005 Feb 22.

Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

Matrix Biol 2004 May;23(2):101-12

Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg. 9, Rm. 1E-127, Bethesda, MD 20892, USA.

J Bone Miner Res 2004 Apr 12;19(4):614-22. Epub 2004 Jan 12.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, Michigan 48109-0486, USA.

Am J Hum Genet 2004 Apr 11;74(4):752-60. Epub 2004 Mar 11.

Section on Heritable Disorders of Bone, Bone and Extracellular Matrix Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA.

N Engl J Med 2003 Jul;349(5):423-6

Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md, USA.

J Biol Chem 2003 Mar 20;278(12):10006-12. Epub 2003 Jan 20.

Section on Connective Tissue Disorders, HDB/NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

Pediatrics 2003 Feb;111(2):E153-61

Cincinnati Children's Hospital Medical Center, University of Cincinnati Medical Center, Cincinnati, Ohio, USA.

J Bone Miner Res 2003 Feb;18(2):237-43

Section on Connective Tissue Disorders, HDB, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

J Biol Chem 2002 Feb 8;277(6):4215-22. Epub 2001 Nov 8.

Section on Connective Tissue Disorders, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.