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Keywords
Last Name
Institution

Matthew L. Warman, M.D.

TitleProfessor of Genetics
InstitutionChildren's Hospital Boston
DepartmentGenetics
AddressChildren's Hospital
Orthopaedic Research Labs, Enders 907.2
320 Longwood Ave
Boston MA 02115
Phone617/919-2371
Fax617/730-0789
Other Positions
TitleHarriet M. Peabody Professor of Orthopedic Surgery
InstitutionChildren's Hospital Boston
DepartmentOrthopedic Surgery


 Mentoring 
 completed student projects
Generation of Anti-Treatment Antibodies in a Mouse Model of Osteogenesis Imperfectacta
Summer, 05/29/12 - 09/04/12
Investigating Atypical Synchondrosis Closure in the Cranial Base of DBA/2J Mice
Summer, 06/20/11 - 08/12/11

 Bibliographic 
 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.
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  1. Maclellan RA, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC. PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis. Plast Reconstr Surg. 2014 Jan; 133(1):12e-9e.
    View in: PubMed
  2. Bükülmez H, Khan F, Bartels CF, Murakami S, Ortiz-Lopez A, Sattar A, Haqqi TM, Warman ML. 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 in: PubMed
  3. Kedlaya R, Veera S, Horan DJ, Moss RE, Ayturk UM, Jacobsen CM, Bowen ME, Paszty C, Warman ML, Robling AG. Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp5-Deficient Mouse Model of OPPG Syndrome. Sci Transl Med. 2013 Nov 13; 5(211):211ra158.
    View in: PubMed
  4. Ayturk UM, Jacobsen CM, Christodoulou DC, Gorham J, Seidman JG, Seidman CE, Robling AG, Warman ML. 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 in: PubMed
  5. Hann S, Kvenvold L, Newby BN, Hong M, Warman ML. A Wisp3 Cre-knockin Allele Produces Efficient Recombination in Spermatocytes during Early Prophase of Meiosis I. PLoS One. 2013; 8(9):e75116.
    View in: PubMed
  6. Allen JM, McGlinn E, Hill A, Warman ML. Autopodial development is selectively impaired by misexpression of chordin-like 1 in the chick limb. Dev Biol. 2013 Sep 1; 381(1):159-69.
    View in: PubMed
  7. Waller KA, Zhang LX, Elsaid KA, Fleming BC, Warman ML, Jay GD. Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis. Proc Natl Acad Sci U S A. 2013 Apr 9; 110(15):5852-7.
    View in: PubMed
  8. Adams A, McBratney-Owen B, Newby B, Bowen ME, Olsen BR, Warman ML. Presphenoidal synchondrosis fusion in DBA/2J mice. Mamm Genome. 2013 Feb; 24(1-2):54-62.
    View in: PubMed
  9. Kim S, Hill A, Warman ML, Smits P. Golgi Disruption and Early Embryonic Lethality in Mice Lacking USO1. PLoS One. 2012; 7(11):e50530.
    View in: PubMed
  10. Yuan Q, Chiquet BT, Devault L, Warman ML, Nakamura Y, Swindell EC, Hecht JT. Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish. Genesis. 2012 Dec; 50(12):871-81.
    View in: PubMed
  11. Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. 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 in: PubMed
  12. Niziolek PJ, Warman ML, Robling AG. 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 in: PubMed
  13. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 8; 90(6):1108-15.
    View in: PubMed
  14. Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012; 13:26.
    View in: PubMed
  15. Drewniak EI, Jay GD, Fleming BC, Zhang L, Warman ML, Crisco JJ. Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees. Arthritis Rheum. 2012 Feb; 64(2):465-73.
    View in: PubMed
  16. Bowen ME, Henke K, Siegfried KR, Warman ML, Harris MP. Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing. Genetics. 2012 Mar; 190(3):1017-24.
    View in: PubMed
  17. Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. 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 9; 89(6):767-72.
    View in: PubMed
  18. Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. 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 in: PubMed
  19. Nakamura Y, He X, Kato H, Wakitani S, Kobayashi T, Watanabe S, Iida A, Tahara H, Warman ML, Watanapokasin R, Postlethwait JH. Sox9 is upstream of microRNA-140 in cartilage. Appl Biochem Biotechnol. 2012 Jan; 166(1):64-71.
    View in: PubMed
  20. Niziolek PJ, Farmer TL, Cui Y, Turner CH, Warman ML, Robling AG. High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes. Bone. 2011 Nov; 49(5):1010-9.
    View in: PubMed
  21. Reuvers J, Thoreson AR, Zhao C, Zhang L, Jay GD, An KN, Warman ML, Amadio PC. 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 in: PubMed
  22. Cui Y, Niziolek PJ, MacDonald BT, Zylstra CR, Alenina N, Robinson DR, Zhong Z, Matthes S, Jacobsen CM, Conlon RA, Brommage R, Liu Q, Mseeh F, Powell DR, Yang QM, Zambrowicz B, Gerrits H, Gossen JA, He X, Bader M, Williams BO, Warman ML, Robling AG. Lrp5 functions in bone to regulate bone mass. Nat Med. 2011 Jun; 17(6):684-91.
    View in: PubMed
  23. Olson JC, Kurek KC, Mehta HP, Warman ML, Snyder BD. 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 in: PubMed
  24. Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050.
    View in: PubMed
  25. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May; 155A(5):943-68.
    View in: PubMed
  26. Nakamura Y, Yamamoto K, He X, Otsuki B, Kim Y, Murao H, Soeda T, Tsumaki N, Deng JM, Zhang Z, Behringer RR, Crombrugghe Bd, Postlethwait JH, Warman ML, Nakamura T, Akiyama H. Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25. Nat Commun. 2011; 2:251.
    View in: PubMed
  27. Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis VE. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010; 5(10).
    View in: PubMed
  28. Kohrs RT, Zhao C, Sun YL, Jay GD, Zhang L, Warman ML, An KN, Amadio PC. Tendon fascicle gliding in wild type, heterozygous, and lubricin knockout mice. J Orthop Res. 2011 Mar; 29(3):384-9.
    View in: PubMed
  29. Kurek KC, Del Mare S, Salah Z, Abdeen S, Sadiq H, Lee SH, Gaudio E, Zanesi N, Jones KB, DeYoung B, Amir G, Gebhardt M, Warman M, Stein GS, Stein JL, Lian JB, Aqeilan RI. Frequent attenuation of the WWOX tumor suppressor in osteosarcoma is associated with increased tumorigenicity and aberrant RUNX2 expression. Cancer Res. 2010 Jul 1; 70(13):5577-86.
    View in: PubMed
  30. Coles JM, Zhang L, Blum JJ, Warman ML, Jay GD, Guilak F, Zauscher S. Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4. Arthritis Rheum. 2010 Jun; 62(6):1666-74.
    View in: PubMed
  31. Fernando CA, Conrad PA, Bartels CF, Marques T, To M, Balow SA, Nakamura Y, Warman ML. Temporal and spatial expression of CCN genes in zebrafish. Dev Dyn. 2010 Jun; 239(6):1755-67.
    View in: PubMed
  32. Kiener HP, Watts GF, Cui Y, Wright J, Thornhill TS, Sköld M, Behar SM, Niederreiter B, Lu J, Cernadas M, Coyle AJ, Sims GP, Smolen J, Warman ML, Brenner MB, Lee DM. Synovial fibroblasts self-direct multicellular lining architecture and synthetic function in three-dimensional organ culture. Arthritis Rheum. 2010 Mar; 62(3):742-52.
    View in: PubMed
  33. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16.
    View in: PubMed
  34. Nakamura Y, Cui Y, Fernando C, Kutz WE, Warman ML. Normal growth and development in mice over-expressing the CCN family member WISP3. J Cell Commun Signal. 2009 Jun; 3(2):105-13.
    View in: PubMed
  35. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. 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 in: PubMed
  36. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. 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 in: PubMed
  37. Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S. FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 2009 Jan 15; 18(2):227-40.
    View in: PubMed
  38. Nakamura Y, He X, Kobayashi T, Yan YL, Postlethwait JH, Warman ML. Unique roles of microRNA140 and its host gene WWP2 in cartilage biology. J Musculoskelet Neuronal Interact. 2008 Oct-Dec; 8(4):321-2.
    View in: PubMed
  39. Balemans W, Piters E, Cleiren E, Ai M, Van Wesenbeeck L, Warman ML, Van Hul W. 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 in: PubMed
  40. Jay GD, Torres JR, Rhee DK, Helminen HJ, Hytinnen MM, Cha CJ, Elsaid K, Kim KS, Cui Y, Warman ML. Association between friction and wear in diarthrodial joints lacking lubricin. Arthritis Rheum. 2007 Nov; 56(11):3662-9.
    View in: PubMed
  41. Nakamura Y, Weidinger G, Liang JO, Aquilina-Beck A, Tamai K, Moon RT, Warman ML. 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 in: PubMed
  42. Jay GD, Torres JR, Warman ML, Laderer MC, Breuer KS. 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 in: PubMed
  43. Sawakami K, Robling AG, Ai M, Pitner ND, Liu D, Warden SJ, Li J, Maye P, Rowe DW, Duncan RL, Warman ML, Turner CH. 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 in: PubMed
  44. Okajima K, Warman ML, Byrne LC, Kerr DS. 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.
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  45. Bukulmez H, Matthews AL, Sullivan CM, Chen C, Kraay MJ, Elston RC, Moskowitz RW, Goldberg VM, Warman ML. Hip joint replacement surgery for idiopathic osteoarthritis aggregates in families. Arthritis Res Ther. 2006; 8(1):R25.
    View in: PubMed
  46. Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. J Clin Endocrinol Metab. 2006 Apr; 91(4):1229-32.
    View in: PubMed
  47. Clément-Lacroix P, Ai M, Morvan F, Roman-Roman S, Vayssière B, Belleville C, Estrera K, Warman ML, Baron R, Rawadi G. 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.
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  48. Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y, Laxer R, Goldbach-Mansky R, Warman ML. Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. J Biol Chem. 2005 Sep 2; 280(35):31325-32.
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  49. Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L. 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 in: PubMed
  50. Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML. 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 in: PubMed
  51. Elsaid KA, Jay GD, Warman ML, Rhee DK, Chichester CO. 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 in: PubMed
  52. Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005 Mar; 115(3):622-31.
    View in: PubMed
  53. Kutz WE, Gong Y, Warman ML. 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 in: PubMed
  54. Holmen SL, Giambernardi TA, Zylstra CR, Buckner-Berghuis BD, Resau JH, Hess JF, Glatt V, Bouxsein ML, Ai M, Warman ML, Williams BO. 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 in: PubMed
  55. Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 Jul 1; 128A(1):23-8.
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  56. Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML. 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 in: PubMed
  57. Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol. 2004 Feb; 55(2):291-4.
    View in: PubMed
  58. Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. 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 in: PubMed
  59. Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Autosomal dominant acute necrotizing encephalopathy. Neurology. 2003 Jul 22; 61(2):226-30.
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  60. Savarirayan R, White SM, Goodman FR, Graham JM, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003 Mar 1; 117A(2):136-42.
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  61. Falk MJ, Heeger S, Lynch KA, DeCaro KR, Bohach D, Gibson KS, Warman ML. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta. Pediatrics. 2003 Mar; 111(3):573-8.
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  62. Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar; 11(3):265-70.
    View in: PubMed
  63. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W. 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 in: PubMed
  64. Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002 Oct 15; 112(3):291-6.
    View in: PubMed
  65. McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE. 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.
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  66. Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet. 2002 Oct; 71(4):975-80.
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  67. Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M. Confirmation of existence of a new syndrome: LAPS syndrome. Am J Med Genet. 2002 Apr 22; 109(2):93-9.
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  68. Warman ML. 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.
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  69. Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet. 2002 Apr; 70(4):866-74.
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  70. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov 16; 107(4):513-23.
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  71. Jepsen KJ, Pennington DE, Lee YL, Warman M, Nadeau J. 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 in: PubMed
  72. Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML. 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.
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  73. Warman ML. Human genetic insights into skeletal development, growth, and homeostasis. Clin Orthop Relat Res. 2000 Oct; (379 Suppl):S40-54.
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  74. Truett GE, Heeger P, Mynatt RL, Truett AA, Walker JA, Warman ML. Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT). Biotechniques. 2000 Jul; 29(1):52, 54.
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  75. Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. 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.
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  76. Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet. 1999 Nov; 23(3):319-22.
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  77. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. 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.
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  78. Gong Y, Wei J, Shao C, Guo Y, Chen B, Guo C, Warman M. [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.
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  79. Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet. 1999 Sep; 23(1):94-8.
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  80. Paassilta P, Pihlajamaa T, Annunen S, Brewton RG, Wood BM, Johnson CC, Liu J, Gong Y, Warman ML, Prockop DJ, Mayne R, Ala-Kokko L. 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 6; 274(32):22469-75.
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  81. Robin NH, Hurvitz J, Warman ML, Morrison S. Clinical and molecular studies of brachydactyly type D. Am J Med Genet. 1999 Aug 6; 85(4):413-8.
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  82. Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22. Am J Hum Genet. 1999 Jul; 65(1):125-33.
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  83. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet. 1999 Mar; 21(3):302-4.
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  84. Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. 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.
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  85. Kurima K, Warman ML, Krishnan S, Domowicz M, Krueger RC, Deyrup A, Schwartz NB. 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.
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  86. Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am J Hum Genet. 1998 Jul; 63(1):155-62.
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  87. Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 1998 Apr; 41(4):730-5.
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  88. Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet. 1998 Apr; 62(4):816-23.
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  89. Meisler MH, Griffith AJ, Warman M, Tiller G, Sprunger LK. Gene symbol: COL11A1. Disease: Marshall syndrome. Hum Genet. 1998 Apr; 102(4):498.
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  90. Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. 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.
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  91. Tiller GE, Warman ML, Gong Y, Knoll JH, Mayne R, Brewton RG. 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.
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  92. Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep; 17(1):18-9.
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  93. Cheung DS, Warman ML, Mulliken JB. Hemangioma in twins. Ann Plast Surg. 1997 Mar; 38(3):269-74.
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  94. Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. Clinical and locus heterogeneity in brachydactyly type C. Am J Med Genet. 1997 Jan 31; 68(3):369-77.
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  95. Vikkula M, Boon LM, Carraway KL, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell. 1996 Dec 27; 87(7):1181-90.
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  96. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. 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.
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  97. Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Hamel BC, Olsen BR. A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2). Ann N Y Acad Sci. 1996 Jun 8; 785:303-6.
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  98. Mulliken JB, Warman ML. Molecular genetics and craniofacial surgery. Plast Reconstr Surg. 1996 Mar; 97(3):666-75.
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  99. Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC. 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.
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  100. Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al. 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.
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  101. North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, Warman ML. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995 Jun; 126(6):916-22.
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  102. Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995 Mar; 32(3):197-9.
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  103. Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell. 1995 Feb 10; 80(3):423-30.
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  104. Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet. 1995 Jan; 4(1):71-5.
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  105. Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, et al. 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.
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  106. Warman ML, McCarthy MT, Perälä M, Vuorio E, Knoll JH, McDaniels CN, Mayne R, Beier DR, Olsen BR. The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4. Genomics. 1994 Sep 1; 23(1):158-62.
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  107. Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet. 1994 Sep; 3(9):1561-4.
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  108. Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. 1994 Sep; 3(9):1583-7.
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  109. Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K, et al. 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.
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  110. Jacenko O, Olsen BR, Warman ML. Of mice and men: heritable skeletal disorders. Am J Hum Genet. 1994 Feb; 54(2):163-8.
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  111. Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR. 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.
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  112. McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet. 1994 Feb; 3(2):303-7.
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  113. Yannicelli S, Rohr F, Warman ML. Nutrition support for glutaric acidemia type I. J Am Diet Assoc. 1994 Feb; 94(2):183-8,191; quiz 189-90.
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  114. Rokos I, Muragaki Y, Warman M, Olsen BR. Assembly and sequencing of a cDNA covering the entire mouse alpha 1(IX) collagen chain. Matrix Biol. 1994 Jan; 14(1):1-8.
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  115. Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics. 1993 Dec; 18(3):661-6.
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  116. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 1993 Nov 5; 75(3):443-50.
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  117. Warman ML, Tiller GE, Polumbo PA, Seldin MF, Rochelle JM, Knoll JH, Cheng SD, Olsen BR. 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.
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  118. Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet. 1993 Sep; 5(1):79-82.
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  119. Warman ML, Mulliken JB, Hayward PG, Müller U. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet. 1993 Jun 1; 46(4):444-9.
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  120. Warman M, Kimura T, Muragaki Y, Castagnola P, Tamei H, Iwata K, Olsen BR. Monoclonal antibodies against two epitopes in the human alpha 1 (IX) collagen chain. Matrix. 1993 Mar; 13(2):149-56.
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  121. Müller U, Warman ML, Mulliken JB, Weber JL. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet. 1993 Feb; 2(2):119-22.
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  122. Marion RW, Chitayat D, Hutcheon RG, Neidich JA, Zackai EH, Singer LP, Warman M. Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr. 1988 Jul; 113(1 Pt 1):45-8.
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