Dr. Warman and his colleagues study matrix biology and aim to understand the role of the extracellular matrix in determining the structure and function of tissues and organs. They approach this by focusing upon human diseases primarily affecting the skeletal and vascular systems. Their research employs several strategies. In order to determine the roles of structural extracellular matrix proteins in cartilage and bone, they have used the candidate gene approach to identify mutations within these proteins as the cause of specific forms of skeletal dysplasia and osteoarthritis. With both the clinical phenotypes and gene mutations in hand, they are now performing focused biochemical, protein, histologic, and electron microscopic analyses upon the affected tissues in order to gain novel insights into each protein's precise role.

Another aspect of Dr. Warman's work involves the study of extracellular matrices as mediators of differentiation and development, through their ability to sequester and present regulatory molecules, provide sites for cell anchorage, and signals for determination of cell polarity. He and his colleagues are exploring this aspect of matrix biology through the study of specific human disorders in which the regulated growth and maintenance of matrix appears disturbed. Using positional and functional cloning strategies, they intend to identify and characterize the responsible genes. They expect this will yield significant insights into common problems of matrix homeostasis such as osteoporosis and tissue vascularization.


Dr. Warman studied material science at Brown University and medicine at Cornell University Medical College. He completed an internship and residency in pediatrics at the Children's Hospital in Washington D.C., and a fellowship in medical genetics at the Children's Hospital in Boston. Following completion of his fellowship in 1989, he remained on staff as a clinical geneticist and also joined the laboratory of Dr. Bjorn Olsen at Harvard Medical School as a postdoctoral fellow. He subsequently joined the faculty at Case Western Reserve University School of Medicine. Dr. Warman is board certified in Pediatrics as well as in Clinical, Biochemical, and Molecular Genetics and maintains a strong clinical interest in these disciplines. He in 1994.

Center for the Study of Genetic Skeletal Disorders


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  1. Co-deletion of Lrp5 and Lrp6 in the skeleton severely diminishes bone gain from sclerostin antibody administration. Bone. 2021 Feb; 143:115708. View abstract
  2. Sensitive detection of Cre-mediated recombination using droplet digital PCR reveals Tg(BGLAP-Cre) and Tg(DMP1-Cre) are active in multiple non-skeletal tissues. Bone. 2021 Jan; 142:115674. View abstract
  3. Ocular Manifestations of Chordin-like 1 Knockout Mice. Cornea. 2020 Sep; 39(9):1145-1150. View abstract
  4. Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. J Bone Miner Res. 2020 10; 35(10):1981-1991. View abstract
  5. Independent validation of experimental results requires timely and unrestricted access to animal models and reagents. PLoS Genet. 2020 06; 16(6):e1008940. View abstract
  6. An osteocalcin-deficient mouse strain without endocrine abnormalities. PLoS Genet. 2020 05; 16(5):e1008361. View abstract
  7. Correction: Unique and non-redundant function of csf1r paralogues in regulation and evolution of post-embryonic development of the zebrafish. Development. 2020 May 18; 147(10). View abstract
  8. Proteolysis and cartilage development are activated in the synovium after surgical induction of post traumatic osteoarthritis. PLoS One. 2020; 15(2):e0229449. View abstract
  9. Unique and non-redundant function of csf1r paralogues in regulation and evolution of post-embryonic development of the zebrafish. Development. 2020 01 22; 147(2). View abstract
  10. Somatic mutations in intracranial arteriovenous malformations. PLoS One. 2019; 14(12):e0226852. View abstract
  11. Arteriovenous malformation associated with a HRAS mutation. Hum Genet. 2019 Dec; 138(11-12):1419-1421. View abstract
  12. Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. Bone. 2020 02; 131:115084. View abstract
  13. Nosology and classification of genetic skeletal disorders: 2019 revision. . 2019 12; 179(12):2393-2419. View abstract
  14. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019 10 03; 105(4):836-843. View abstract
  15. Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations. Angiogenesis. 2019 11; 22(4):547-552. View abstract
  16. Expression of a Degradation-Resistant ß-Catenin Mutant in Osteocytes Protects the Skeleton From Mechanodeprivation-Induced Bone Wasting. J Bone Miner Res. 2019 10; 34(10):1964-1975. View abstract
  17. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nat Med. 2019 04; 25(4):583-590. View abstract
  18. Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism. Bone. 2019 03; 120:166-175. View abstract
  19. SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity. Bone Res. 2018; 6:12. View abstract
  20. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. Clin Genet. 2018 05; 93(5):1075-1080. View abstract
  21. The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 2018 01 08; 145(1). View abstract
  22. SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. Sci Rep. 2017 10 05; 7(1):12699. View abstract
  23. Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease. Bone. 2017 Dec; 105:253-261. View abstract
  24. Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure. PLoS One. 2017; 12(8):e0184028. View abstract
  25. Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. Pediatr Res. 2017 Nov; 82(5):850-854. View abstract
  26. Mice maintain predominantly maternal Gas expression throughout life in brown fat tissue (BAT), but not other tissues. Bone. 2017 Oct; 103:177-187. View abstract
  27. Improving the DNA specificity and applicability of base editing through protein engineering and protein delivery. Nat Commun. 2017 06 06; 8:15790. View abstract
  28. Confocal imaging of mouse mandibular condyle cartilage. Sci Rep. 2017 03 07; 7:43848. View abstract
  29. CRISPR/CAS9 Technologies. J Bone Miner Res. 2017 May; 32(5):883-888. View abstract
  30. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. Am J Hum Genet. 2017 Mar 02; 100(3):546-554. View abstract
  31. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. 2017 Aug; 20(3):303-306. View abstract
  32. Superficial cells are self-renewing chondrocyte progenitors, which form the articular cartilage in juvenile mice. FASEB J. 2017 03; 31(3):1067-1084. View abstract
  33. Induced superficial chondrocyte death reduces catabolic cartilage damage in murine posttraumatic osteoarthritis. J Clin Invest. 2016 08 01; 126(8):2893-902. View abstract
  34. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Bone. 2016 09; 90:127-32. View abstract
  35. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 06 02; 98(6):1271. View abstract
  36. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. 2016 06; 87:120-9. View abstract
  37. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 Apr 07; 98(4):789-95. View abstract
  38. Critical Endothelial Regulation by LRP5 during Retinal Vascular Development. PLoS One. 2016; 11(3):e0152833. View abstract
  39. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations. Plast Reconstr Surg. 2016 Jan; 137(1):77e-82e. View abstract
  40. Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia. PLoS One. 2015; 10(11):e0140775. View abstract
  41. Lubricin restoration in a mouse model of congenital deficiency. Arthritis Rheumatol. 2015 Nov; 67(11):3070-81. View abstract
  42. High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo. J Bone Miner Res. 2015 Oct; 30(10):1822-30. View abstract
  43. Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues. Plast Reconstr Surg. 2015 Oct; 136(4 Suppl):72-3. View abstract
  44. Nosology and classification of genetic skeletal disorders: 2015 revision. . 2015 Dec; 167A(12):2869-92. View abstract
  45. Identification of a Prg4-expressing articular cartilage progenitor cell population in mice. Arthritis Rheumatol. 2015 May; 67(5):1261-73. View abstract
  46. Mechanistic and therapeutic insights gained from studying rare skeletal diseases. Bone. 2015 Jul; 76:67-75. View abstract
  47. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. View abstract
  48. A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am J Hum Genet. 2015 Mar 05; 96(3):480-6. View abstract
  49. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr; 166(4):1048-54.e1-5. View abstract
  50. Anti-lubricin monoclonal antibodies created using lubricin-knockout mice immunodetect lubricin in several species and in patients with healthy and diseased joints. PLoS One. 2015; 10(2):e0116237. View abstract
  51. AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis. 2015 Apr; 18(2):151-62. View abstract
  52. Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Nat Med. 2014 Nov; 20(11):1229-30. View abstract
  53. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. J Bone Miner Res. 2014 Oct; 29(10):2297-306. View abstract
  54. A normative study of the synovial fluid proteome from healthy porcine knee joints. J Proteome Res. 2014 Oct 03; 13(10):4377-87. View abstract
  55. SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. PLoS Genet. 2014; 10(5):e1004364. View abstract
  56. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg. 2014 Jan; 133(1):12e-19e. View abstract
  57. Protective effects of C-type natriuretic peptide on linear growth and articular cartilage integrity in a mouse model of inflammatory arthritis. Arthritis Rheumatol. 2014 Jan; 66(1):78-89. View abstract
  58. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Sci Transl Med. 2013 Nov 13; 5(211):211ra158. View abstract
  59. An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. J Bone Miner Res. 2013 Oct; 28(10):2081-93. View abstract
  60. A Wisp3 Cre-knockin allele produces efficient recombination in spermatocytes during early prophase of meiosis I. PLoS One. 2013; 8(9):e75116. View abstract
  61. Autopodial development is selectively impaired by misexpression of chordin-like 1 in the chick limb. Dev Biol. 2013 Sep 01; 381(1):159-69. View abstract
  62. Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis. Proc Natl Acad Sci U S A. 2013 Apr 09; 110(15):5852-7. View abstract
  63. Presphenoidal synchondrosis fusion in DBA/2J mice. Mamm Genome. 2013 Feb; 24(1-2):54-62. View abstract
  64. Golgi disruption and early embryonic lethality in mice lacking USO1. PLoS One. 2012; 7(11):e50530. View abstract
  65. Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish. Genesis. 2012 Dec; 50(12):871-81. View abstract
  66. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet. 2012 Aug 15; 160C(3):217-29. View abstract
  67. Mechanotransduction in bone tissue: The A214V and G171V mutations in Lrp5 enhance load-induced osteogenesis in a surface-selective manner. Bone. 2012 Sep; 51(3):459-65. View abstract
  68. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 08; 90(6):1108-15. View abstract
  69. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012 Apr 10; 13:26. View abstract
  70. Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees. Arthritis Rheum. 2012 Feb; 64(2):465-73. View abstract
  71. Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing. Genetics. 2012 Mar; 190(3):1017-24. View abstract
  72. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet. 2011 Dec 09; 89(6):767-72. View abstract
  73. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012 Feb; 49(2):119-25. View abstract
  74. Sox9 is upstream of microRNA-140 in cartilage. Appl Biochem Biotechnol. 2012 Jan; 166(1):64-71. View abstract
  75. High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes. Bone. 2011 Nov; 49(5):1010-9. View abstract
  76. The mechanical properties of tail tendon fascicles from lubricin knockout, wild type and heterozygous mice. J Struct Biol. 2011 Oct; 176(1):41-5. View abstract
  77. Lrp5 functions in bone to regulate bone mass. Nat Med. 2011 Jun; 17(6):684-91. View abstract
  78. Expansion thoracoplasty affects lung growth and morphology in a rabbit model: a pilot study. Clin Orthop Relat Res. 2011 May; 469(5):1375-82. View abstract
  79. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050. View abstract
  80. Nosology and classification of genetic skeletal disorders: 2010 revision. . 2011 May; 155A(5):943-68. View abstract
  81. Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25. Nat Commun. 2011; 2:251. View abstract
  82. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010 Oct 05; 5(10). View abstract
  83. Tendon fascicle gliding in wild type, heterozygous, and lubricin knockout mice. J Orthop Res. 2011 Mar; 29(3):384-9. View abstract
  84. Frequent attenuation of the WWOX tumor suppressor in osteosarcoma is associated with increased tumorigenicity and aberrant RUNX2 expression. Cancer Res. 2010 Jul 01; 70(13):5577-86. View abstract
  85. Temporal and spatial expression of CCN genes in zebrafish. Dev Dyn. 2010 Jun; 239(6):1755-67. View abstract
  86. Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4. Arthritis Rheum. 2010 Jun; 62(6):1666-74. View abstract
  87. Synovial fibroblasts self-direct multicellular lining architecture and synthetic function in three-dimensional organ culture. Arthritis Rheum. 2010 Mar; 62(3):742-52. View abstract
  88. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16. View abstract
  89. Normal growth and development in mice over-expressing the CCN family member WISP3. J Cell Commun Signal. 2009 Jun; 3(2):105-13. View abstract
  90. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 2009 Apr; 30(4):641-8. View abstract
  91. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan; 84(1):44-51. View abstract
  92. FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 2009 Jan 15; 18(2):227-40. View abstract
  93. Unique roles of microRNA140 and its host gene WWP2 in cartilage biology. J Musculoskelet Neuronal Interact. 2008 Oct-Dec; 8(4):321-2. View abstract
  94. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. Calcif Tissue Int. 2008 Jun; 82(6):445-53. View abstract
  95. Association between friction and wear in diarthrodial joints lacking lubricin. Arthritis Rheum. 2007 Nov; 56(11):3662-9. View abstract
  96. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. J Clin Invest. 2007 Oct; 117(10):3075-86. View abstract
  97. The role of lubricin in the mechanical behavior of synovial fluid. Proc Natl Acad Sci U S A. 2007 Apr 10; 104(15):6194-9. View abstract
  98. The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. J Biol Chem. 2006 Aug 18; 281(33):23698-711. View abstract
  99. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype. Mol Genet Metab. 2006 Feb; 87(2):162-8. View abstract
  100. Hip joint replacement surgery for idiopathic osteoarthritis aggregates in families. Arthritis Res Ther. 2006; 8(1):R25. View abstract
  101. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. J Clin Endocrinol Metab. 2006 Apr; 91(4):1229-32. View abstract
  102. Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. Proc Natl Acad Sci U S A. 2005 Nov 29; 102(48):17406-11. View abstract
  103. Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. J Biol Chem. 2005 Sep 02; 280(35):31325-32. View abstract
  104. Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling. Mol Cell Biol. 2005 Jun; 25(12):4946-55. View abstract
  105. Association of articular cartilage degradation and loss of boundary-lubricating ability of synovial fluid following injury and inflammatory arthritis. Arthritis Rheum. 2005 Jun; 52(6):1746-55. View abstract
  106. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Osteoarthritis Cartilage. 2005 Jun; 13(6):497-507. View abstract
  107. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005 Mar; 115(3):622-31. View abstract
  108. WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. Mol Cell Biol. 2005 Jan; 25(1):414-21. View abstract
  109. Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6. J Bone Miner Res. 2004 Dec; 19(12):2033-40. View abstract
  110. Cohen syndrome in the Ohio Amish. . 2004 Jul 01; 128A(1):23-8. View abstract
  111. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul; 75(1):27-34. View abstract
  112. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol. 2004 Feb; 55(2):291-4. View abstract
  113. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct; 73(4):791-800. View abstract
  114. Autosomal dominant acute necrotizing encephalopathy. Neurology. 2003 Jul 22; 61(2):226-30. View abstract
  115. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta. Pediatrics. 2003 Mar; 111(3):573-8. View abstract
  116. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. . 2003 Mar 01; 117A(2):136-42. View abstract
  117. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar; 11(3):265-70. View abstract
  118. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar; 72(3):763-71. View abstract
  119. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002 Oct 15; 112(3):291-6. View abstract
  120. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Hum Genet. 2002 Oct; 111(4-5):368-75. View abstract
  121. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet. 2002 Oct; 71(4):975-80. View abstract
  122. Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva. Am J Med Genet. 2002 Apr 22; 109(2):162; author reply 163-4. View abstract
  123. Confirmation of existence of a new syndrome: LAPS syndrome. Am J Med Genet. 2002 Apr 22; 109(2):93-9. View abstract
  124. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet. 2002 Apr; 70(4):866-74. View abstract
  125. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov 16; 107(4):513-23. View abstract
  126. Bone brittleness varies with genetic background in A/J and C57BL/6J inbred mice. J Bone Miner Res. 2001 Oct; 16(10):1854-62. View abstract
  127. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. Proc Natl Acad Sci U S A. 2001 Sep 25; 98(20):11353-8. View abstract
  128. Human genetic insights into skeletal development, growth, and homeostasis. Clin Orthop Relat Res. 2000 Oct; (379 Suppl):S40-54. View abstract
  129. Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT). Biotechniques. 2000 Jul; 29(1):52, 54. View abstract
  130. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet. 2000 Feb; 66(2):368-77. View abstract
  131. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet. 1999 Nov; 23(3):319-22. View abstract
  132. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct; 65(4):974-83. View abstract
  133. [Mapping the gene responsible for Smith-Fineman-Myers syndrome to Xq25]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct; 16(5):277-80. View abstract
  134. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet. 1999 Sep; 23(1):94-8. View abstract
  135. Clinical and molecular studies of brachydactyly type D. Am J Med Genet. 1999 Aug 06; 85(4):413-8. View abstract
  136. Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. J Biol Chem. 1999 Aug 06; 274(32):22469-75. View abstract
  137. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22. Am J Hum Genet. 1999 Jul; 65(1):125-33. View abstract
  138. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet. 1999 Mar; 21(3):302-4. View abstract
  139. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet. 1999 Feb; 64(2):570-7. View abstract
  140. A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proc Natl Acad Sci U S A. 1998 Jul 21; 95(15):8681-5. View abstract
  141. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am J Hum Genet. 1998 Jul; 63(1):155-62. View abstract
  142. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet. 1998 Apr; 62(4):816-23. View abstract
  143. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 1998 Apr; 41(4):730-5. View abstract
  144. Gene symbol: COL11A1. Disease: Marshall syndrome. Hum Genet. 1998 Apr; 102(4):498. View abstract
  145. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr. 1998 Feb; 132(2):368-71. View abstract
  146. Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3. Cytogenet Cell Genet. 1998; 81(3-4):205-7. View abstract
  147. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep; 17(1):18-9. View abstract
  148. Hemangioma in twins. Ann Plast Surg. 1997 Mar; 38(3):269-74. View abstract
  149. Clinical and locus heterogeneity in brachydactyly type C. Am J Med Genet. 1997 Jan 31; 68(3):369-77. View abstract
  150. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell. 1996 Dec 27; 87(7):1181-90. View abstract
  151. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet. 1996 Jul; 59(1):146-51. View abstract
  152. A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2). Ann N Y Acad Sci. 1996 Jun 08; 785:303-6. View abstract
  153. Molecular genetics and craniofacial surgery. Plast Reconstr Surg. 1996 Mar; 97(3):666-75. View abstract
  154. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet. 1996 Jan; 12(1):103-5. View abstract
  155. Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. Genomics. 1995 Nov 20; 30(2):329-36. View abstract
  156. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995 Jun; 126(6):916-22. View abstract
  157. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995 Mar; 32(3):197-9. View abstract
  158. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell. 1995 Feb 10; 80(3):423-30. View abstract
  159. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet. 1995 Jan; 4(1):71-5. View abstract
  160. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am J Hum Genet. 1994 Oct; 55(4):678-84. View abstract
  161. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. 1994 Sep; 3(9):1583-7. View abstract
  162. The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4. Genomics. 1994 Sep 01; 23(1):158-62. View abstract
  163. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet. 1994 Sep; 3(9):1561-4. View abstract
  164. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Hum Genet. 1994 Mar; 93(3):236-42. View abstract
  165. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet. 1994 Feb; 3(2):303-7. View abstract
  166. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Genomics. 1994 Feb; 19(3):494-9. View abstract
  167. Of mice and men: heritable skeletal disorders. Am J Hum Genet. 1994 Feb; 54(2):163-8. View abstract
  168. Nutrition support for glutaric acidemia type I. J Am Diet Assoc. 1994 Feb; 94(2):183-8,191; quiz 189-90. View abstract
  169. Assembly and sequencing of a cDNA covering the entire mouse alpha 1(IX) collagen chain. Matrix Biol. 1994 Jan; 14(1):1-8. View abstract
  170. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics. 1993 Dec; 18(3):661-6. View abstract
  171. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 1993 Nov 05; 75(3):443-50. View abstract
  172. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet. 1993 Sep; 5(1):79-82. View abstract
  173. Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1). Genomics. 1993 Sep; 17(3):694-8. View abstract
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