Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Matthew L. Warman, M.D.

Other Positions

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

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R21AR067388 (WARMAN, MATTHEW L) Apr 1, 2015 - Mar 31, 2017
    The Efficacy of combination therapy in Osteogenesis Imperfecta
    Role: Principal Investigator
  2. R13AR066509 (WARMAN, MATTHEW L) Jun 1, 2014 - May 31, 2015
    Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study
    Role: Principal Investigator
  3. R01AR064231 (WARMAN, MATTHEW L) Apr 3, 2014 - Mar 31, 2019
    Non-heritable genetic diseases of the skeletal system: Pathogenesis and Treatment
    Role: Principal Investigator
  4. R21AR062326 (WARMAN, MATTHEW L) Sep 16, 2011 - Aug 30, 2013
    Does increasing bone mass also increase bone strength in mouse models of OI?
    Role: Principal Investigator
  5. R01AR053237 (ROBLING, ALEXANDER G) Sep 30, 2005 - Jul 31, 2022
    Lrp4 signaling in bone metabolism and mechanotransduction
    Role: Co-Principal Investigator

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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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. Kang KS, Hong JM, Horan DJ, Lim KE, Bullock WA, Bruzzaniti A, Hann S, Warman ML, Robling AG. Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism. Bone. 2019 Mar; 120:166-175. PMID: 30409757.
    Citations:    Fields:    
  2. Zuo C, Wang L, Kamalesh RM, Bowen ME, Moore DC, Dooner MS, Reginato AM, Wu Q, Schorl C, Song Y, Warman ML, Neel BG, Ehrlich MG, Yang W. SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity. Bone Res. 2018; 6:12. PMID: 29644115.
    Citations: 1     
  3. Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. Clin Genet. 2018 May; 93(5):1075-1080. PMID: 29231959.
    Citations:    Fields:    
  4. Bird IM, Kim SH, Schweppe DK, Caetano-Lopes J, Robling AG, Charles JF, Gygi SP, Warman ML, Smits PJ. The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 2018 01 08; 145(1). PMID: 29180569.
    Citations:    Fields:    Translation:AnimalsCells
  5. Wang L, Huang J, Moore DC, Zuo C, Wu Q, Xie L, von der Mark K, Yuan X, Chen D, Warman ML, Ehrlich MG, Yang W. SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. Sci Rep. 2017 Oct 05; 7(1):12699. PMID: 28983104.
    Citations: 1     Fields:    
  6. Caetano-Lopes J, Lessard SG, Hann S, Espinoza K, Kang KS, Lim KE, Horan DJ, Noonan HR, Hu D, Baron R, Robling AG, Warman ML. Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease. Bone. 2017 Dec; 105:253-261. PMID: 28942122.
    Citations:    Fields:    Translation:AnimalsCells
  7. Maccarana M, Svensson RB, Knutsson A, Giannopoulos A, Pelkonen M, Weis M, Eyre D, Warman M, Kalamajski S. Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure. PLoS One. 2017; 12(8):e0184028. PMID: 28859141.
    Citations:    Fields:    Translation:AnimalsCells
  8. Couto JA, Konczyk DJ, Vivero MP, Kozakewich HPW, Upton J, Fu X, Padwa BL, Mulliken JB, Warman ML, Greene AK. Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. Pediatr Res. 2017 Nov; 82(5):850-854. PMID: 28665924.
    Citations: 3     Fields:    Translation:HumansCells
  9. Tafaj O, Hann S, Ayturk U, Warman ML, Jüppner H. Mice maintain predominantly maternal Gas expression throughout life in brown fat tissue (BAT), but not other tissues. Bone. 2017 Oct; 103:177-187. PMID: 28694163.
    Citations:    Fields:    Translation:Animals
  10. Rees HA, Komor AC, Yeh WH, Caetano-Lopes J, Warman M, Edge ASB, Liu DR. Improving the DNA specificity and applicability of base editing through protein engineering and protein delivery. Nat Commun. 2017 06 06; 8:15790. PMID: 28585549.
    Citations: 19     Fields:    Translation:AnimalsCells
  11. He Y, Zhang M, Huang AY, Cui Y, Bai D, Warman ML. Confocal imaging of mouse mandibular condyle cartilage. Sci Rep. 2017 03 07; 7:43848. PMID: 28266618.
    Citations: 3     Fields:    Translation:AnimalsCells
  12. Williams BO, Warman ML. CRISPR/CAS9 Technologies. J Bone Miner Res. 2017 May; 32(5):883-888. PMID: 28230927.
    Citations:    Fields:    Translation:HumansAnimals
  13. Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. Am J Hum Genet. 2017 Mar 02; 100(3):546-554. PMID: 28190454.
    Citations: 7     Fields:    Translation:HumansCells
  14. Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. 2017 Aug; 20(3):303-306. PMID: 28120216.
    Citations: 8     Fields:    Translation:HumansCells
  15. Li L, Newton PT, Bouderlique T, Sejnohova M, Zikmund T, Kozhemyakina E, Xie M, Krivanek J, Kaiser J, Qian H, Dyachuk V, Lassar AB, Warman ML, Barenius B, Adameyko I, Chagin AS. Superficial cells are self-renewing chondrocyte progenitors, which form the articular cartilage in juvenile mice. FASEB J. 2017 03; 31(3):1067-1084. PMID: 27965322.
    Citations: 9     Fields:    Translation:AnimalsCells
  16. Zhang M, Mani SB, He Y, Hall AM, Xu L, Li Y, Zurakowski D, Jay GD, Warman ML. Induced superficial chondrocyte death reduces catabolic cartilage damage in murine posttraumatic osteoarthritis. J Clin Invest. 2016 08 01; 126(8):2893-902. PMID: 27427985.
    Citations: 12     Fields:    Translation:AnimalsCells
  17. Jacobsen CM, Schwartz MA, Roberts HJ, Lim KE, Spevak L, Boskey AL, Zurakowski D, Robling AG, Warman ML. 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. PMID: 27297606; PMCID: PMC4985001.
    Citations: 6     Fields:    Translation:AnimalsCells
  18. Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HPW, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 06 02; 98(6):1271. PMID: 27259057.
    Citations: 4     Fields:    
  19. Masci M, Wang M, Imbert L, Barnes AM, Spevak L, Lukashova L, Huang Y, Ma Y, Marini JC, Jacobsen CM, Warman ML, Boskey AL. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. 2016 06; 87:120-9. PMID: 27083399; PMCID: PMC4862917.
    Citations: 5     Fields:    Translation:AnimalsCells
  20. Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 Apr 07; 98(4):789-95. PMID: 27058448.
    Citations: 8     Fields:    Translation:HumansCells
  21. Huang W, Li Q, Amiry-Moghaddam M, Hokama M, Sardi SH, Nagao M, Warman ML, Olsen BR. Critical Endothelial Regulation by LRP5 during Retinal Vascular Development. PLoS One. 2016; 11(3):e0152833. PMID: 27031698.
    Citations: 3     Fields:    Translation:AnimalsCells
  22. Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations. Plast Reconstr Surg. 2016 Jan; 137(1):77e-82e. PMID: 26368330.
    Citations: 15     Fields:    Translation:HumansCells
  23. Niziolek PJ, Bullock W, Warman ML, Robling AG. 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. PMID: 26554834; PMCID: PMC4640505.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  24. Hill A, Waller KA, Cui Y, Allen JM, Smits P, Zhang LX, Ayturk UM, Hann S, Lessard SG, Zurakowski D, Warman ML, Jay GD. Lubricin restoration in a mouse model of congenital deficiency. Arthritis Rheumatol. 2015 Nov; 67(11):3070-81. PMID: 26216721; PMCID: PMC4626303.
    Citations: 5     Fields:    Translation:AnimalsCells
  25. Niziolek PJ, MacDonald BT, Kedlaya R, Zhang M, Bellido T, He X, Warman ML, Robling AG. High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo. J Bone Miner Res. 2015 Oct; 30(10):1822-30. PMID: 25808845; PMCID: PMC4580530.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  26. Couto JA, Vivero MP, Upton J, Padwa BL, Warman ML, Mulliken JB, Greene AK. Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues. Plast Reconstr Surg. 2015 Oct; 136(4 Suppl):72-3. PMID: 26397580.
  27. Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015 Dec; 167A(12):2869-92. PMID: 26394607.
    Citations: 64     Fields:    Translation:Humans
  28. Kozhemyakina E, Zhang M, Ionescu A, Ayturk UM, Ono N, Kobayashi A, Kronenberg H, Warman ML, Lassar AB. Identification of a Prg4-expressing articular cartilage progenitor cell population in mice. Arthritis Rheumatol. 2015 May; 67(5):1261-73. PMID: 25603997; PMCID: PMC4414823.
    Citations: 36     Fields:    Translation:AnimalsCells
  29. Tosi LL, Warman ML. Mechanistic and therapeutic insights gained from studying rare skeletal diseases. Bone. 2015 Jul; 76:67-75. PMID: 25819040.
    Citations: 5     Fields:    Translation:HumansCells
  30. Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. PMID: 25703509; PMCID: PMC4382411.
    Citations: 13     Fields:    Translation:Humans
  31. Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, Mulliken JB, Warman ML, Greene AK. A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am J Hum Genet. 2015 Mar 05; 96(3):480-6. PMID: 25728774; PMCID: PMC4375628.
    Citations: 9     Fields:    Translation:Humans
  32. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr; 166(4):1048-54.e1-5. PMID: 25681199; PMCID: PMC4498659.
    Citations: 36     Fields:    Translation:Humans
  33. Ai M, Cui Y, Sy MS, Lee DM, Zhang LX, Larson KM, Kurek KC, Jay GD, Warman ML. 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. PMID: 25642942; PMCID: PMC4314068.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  34. Boscolo E, Coma S, Luks VL, Greene AK, Klagsbrun M, Warman ML, Bischoff J. AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis. 2015 Apr; 18(2):151-62. PMID: 25424831; PMCID: PMC4366356.
    Citations: 13     Fields:    Translation:HumansCells
  35. Cui Y, Niziolek PJ, MacDonald BT, Alenina N, Matthes S, Jacobsen CM, Conlon RA, Brommage R, Powell DR, He X, Bader M, Williams BO, Warman ML, Robling AG. Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Nat Med. 2014 Nov; 20(11):1229-30. PMID: 25375917.
    Citations: 6     Fields:    Translation:Animals
  36. Jacobsen CM, Barber LA, Ayturk UM, Roberts HJ, Deal LE, Schwartz MA, Weis M, Eyre D, Zurakowski D, Robling AG, Warman ML. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. J Bone Miner Res. 2014 Oct; 29(10):2297-306. PMID: 24677211; PMCID: PMC4130796.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  37. Bennike T, Ayturk U, Haslauer CM, Froehlich JW, Proffen BL, Barnaby O, Birkelund S, Murray MM, Warman ML, Stensballe A, Steen H. A normative study of the synovial fluid proteome from healthy porcine knee joints. J Proteome Res. 2014 Oct 03; 13(10):4377-87. PMID: 25160569; PMCID: PMC4184458.
    Citations: 10     Fields:    Translation:AnimalsCells
  38. Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML. SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. PLoS Genet. 2014; 10(5):e1004364. PMID: 24875294.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  39. 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. PMID: 24374682.
    Citations: 14     Fields:    Translation:HumansCells
  40. 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. PMID: 24449577; PMCID: PMC4034591.
    Citations: 2     Fields:    Translation:AnimalsCells
  41. 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. PMID: 24225945; PMCID: PMC3964772.
    Citations: 20     Fields:    Translation:Animals
  42. 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. PMID: 23553928; PMCID: PMC3743099.
    Citations: 18     Fields:    Translation:HumansAnimals
  43. 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. PMID: 24040393; PMCID: PMC3769254.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  44. 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 01; 381(1):159-69. PMID: 23764427.
    Citations: 3     Fields:    Translation:AnimalsCells
  45. 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 09; 110(15):5852-7. PMID: 23530215; PMCID: PMC3625316.
    Citations: 30     Fields:    Translation:AnimalsCells
  46. 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. PMID: 23179633; PMCID: PMC3560942.
    Citations: 1     Fields:    Translation:AnimalsCells
  47. Kim S, Hill A, Warman ML, Smits P. Golgi disruption and early embryonic lethality in mice lacking USO1. PLoS One. 2012; 7(11):e50530. PMID: 23185636; PMCID: PMC3503957.
    Citations: 4     Fields:    Translation:AnimalsCells
  48. 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. PMID: 22887593; PMCID: PMC3535582.
    Citations: 5     Fields:    Translation:AnimalsCells
  49. 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. PMID: 22791401.
    Citations: 16     Fields:    Translation:HumansCells
  50. 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. PMID: 22750014; PMCID: PMC3784262.
    Citations: 16     Fields:    Translation:AnimalsCells
  51. 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 08; 90(6):1108-15. PMID: 22658544; PMCID: PMC3370283.
    Citations: 84     Fields:    Translation:HumansCells
  52. 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 Apr 10; 13:26. PMID: 22487062; PMCID: PMC3374890.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  53. 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. PMID: 21905020; PMCID: PMC3252402.
    Citations: 16     Fields:    Translation:Animals
  54. 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. PMID: 22174069; PMCID: PMC3296239.
    Citations: 30     Fields:    Translation:Animals
  55. 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 09; 89(6):767-72. PMID: 22152678.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  56. 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. PMID: 22147889.
    Citations: 24     Fields:    Translation:HumansAnimals
  57. 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. PMID: 22052544; PMCID: PMC3774128.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  58. 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. PMID: 21855668; PMCID: PMC3412139.
    Citations: 31     Fields:    Translation:AnimalsCells
  59. 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. PMID: 21821131; PMCID: PMC3910539.
    Citations: 5     Fields:    Translation:Animals
  60. 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. PMID: 21602802; PMCID: PMC3113461.
    Citations: 156     Fields:    Translation:AnimalsCells
  61. 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. PMID: 21424837; PMCID: PMC3069277.
    Citations: 3     Fields:    Translation:AnimalsCells
  62. 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. PMID: 21533187; PMCID: PMC3077396.
    Citations: 25     Fields:    Translation:HumansCells
  63. 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. PMID: 21438135; PMCID: PMC3166781.
    Citations: 154     Fields:    Translation:Humans
  64. 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. PMID: 21427722; PMCID: PMC4040945.
    Citations: 41     Fields:    Translation:AnimalsCells
  65. 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 Oct 05; 5(10). PMID: 20957154.
    Citations: 45     Fields:    Translation:Animals
  66. 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. PMID: 20886657.
    Citations: 10     Fields:    Translation:Animals
  67. 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 01; 70(13):5577-86. PMID: 20530675; PMCID: PMC3037996.
    Citations: 38     Fields:    Translation:HumansAnimalsCells
  68. 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. PMID: 20191580; PMCID: PMC2943386.
    Citations: 36     Fields:    Translation:Animals
  69. 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. PMID: 20503371; PMCID: PMC3133677.
    Citations: 9     Fields:    Translation:AnimalsCells
  70. 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. PMID: 20131230.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  71. 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. PMID: 20089971; PMCID: PMC3108191.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  72. 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. PMID: 19401829; PMCID: PMC2721080.
    Citations: 7     
  73. 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. PMID: 19177549.
    Citations: 11     Fields:    Translation:HumansCells
  74. 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. PMID: 19118815; PMCID: PMC2668029.
    Citations: 42     Fields:    Translation:HumansCells
  75. 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. PMID: 18923003; PMCID: PMC2638772.
    Citations: 25     Fields:    Translation:HumansAnimalsCells
  76. 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. PMID: 19147957; PMCID: PMC2757261.
    Citations: 5     Fields:    Translation:HumansAnimals
  77. 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. PMID: 18521528.
    Citations: 48     Fields:    Translation:HumansAnimalsCells
  78. 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. PMID: 17968947; PMCID: PMC2688668.
    Citations: 65     Fields:    Translation:HumansAnimals
  79. 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. PMID: 17823661; PMCID: PMC1964511.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  80. 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. PMID: 17404241; PMCID: PMC1851076.
    Citations: 53     Fields:    Translation:HumansAnimals
  81. 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. PMID: 16790443.
    Citations: 149     Fields:    Translation:HumansAnimalsCells
  82. 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. PMID: 16412675.
    Citations: 8     Fields:    Translation:HumansCells
  83. 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. PMID: 16507126; PMCID: PMC1526562.
    Citations: 3     Fields:    Translation:Humans
  84. 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. PMID: 16384845.
    Citations: 38     Fields:    Translation:Humans
  85. 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. PMID: 16293698; PMCID: PMC1297659.
    Citations: 113     Fields:    Translation:AnimalsCells
  86. 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 02; 280(35):31325-32. PMID: 16000300.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  87. 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. PMID: 15922184.
    Citations: 12     Fields:    Translation:Humans
  88. 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. PMID: 15923613; PMCID: PMC1140571.
    Citations: 72     Fields:    Translation:HumansAnimalsCells
  89. 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. PMID: 15934070.
    Citations: 47     Fields:    Translation:HumansAnimals
  90. 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. PMID: 15719068; PMCID: PMC548698.
    Citations: 157     Fields:    Translation:HumansAnimalsCells
  91. 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. PMID: 15601861; PMCID: PMC538768.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  92. 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. PMID: 15537447.
    Citations: 112     Fields:    Translation:HumansAnimalsCells
  93. 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 01; 128A(1):23-8. PMID: 15211651.
    Citations: 5     Fields:    Translation:HumansCells
  94. 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. PMID: 15146390; PMCID: PMC1182004.
    Citations: 72     Fields:    Translation:HumansCells
  95. 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. PMID: 14755735.
    Citations: 8     Fields:    Translation:HumansCells
  96. 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. PMID: 14508707; PMCID: PMC1180602.
    Citations: 51     Fields:    Translation:HumansAnimalsCells
  97. 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. PMID: 12874403.
    Citations: 13     Fields:    Translation:HumansCells
  98. 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 01; 117A(2):136-42. PMID: 12567410.
    Citations: 15     Fields:    Translation:Humans
  99. 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. PMID: 12612238.
    Citations: 15     Fields:    Translation:HumansCTClinical Trials
  100. 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. PMID: 12673280.
    Citations: 12     Fields:    Translation:Humans
  101. 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. PMID: 12579474; PMCID: PMC1180253.
    Citations: 130     Fields:    Translation:HumansAnimalsCells
  102. 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. PMID: 12357473.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  103. 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. PMID: 12384778.
    Citations: 9     Fields:    Translation:HumansCells
  104. 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. PMID: 12214284; PMCID: PMC378553.
    Citations: 15     Fields:    Translation:HumansCells
  105. 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. PMID: 11977156.
    Citations: 2     Fields:    Translation:Humans
  106. 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. PMID: 11977169.
    Citations: 2     Fields:    Translation:HumansCells
  107. 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. PMID: 11845407; PMCID: PMC379115.
    Citations: 39     Fields:    Translation:HumansCells
  108. 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. PMID: 11719191.
    Citations: 607     Fields:    Translation:HumansAnimalsCells
  109. 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. PMID: 11585350.
    Citations: 32     Fields:    Translation:Animals
  110. 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. PMID: 11562478; PMCID: PMC58733.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  111. Warman ML. Human genetic insights into skeletal development, growth, and homeostasis. Clin Orthop Relat Res. 2000 Oct; (379 Suppl):S40-54. PMID: 11039750.
    Citations:    Fields:    Translation:HumansAnimals
  112. 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. PMID: 10907076.
    Citations: 321     Fields:    Translation:Animals
  113. 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. PMID: 10677296; PMCID: PMC1288089.
    Citations: 18     Fields:    Translation:HumansCells
  114. 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. PMID: 10545950.
    Citations: 81     Fields:    Translation:HumansAnimalsCells
  115. 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. PMID: 10486316; PMCID: PMC1288268.
    Citations: 52     Fields:    Translation:HumansCells
  116. 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. PMID: 10514530.
    Citations: 1     Fields:    Translation:HumansCells
  117. 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. PMID: 10471507.
    Citations: 67     Fields:    Translation:HumansCells
  118. 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 06; 274(32):22469-75. PMID: 10428822.
    Citations: 8     Fields:    Translation:HumansCells
  119. Robin NH, Hurvitz J, Warman ML, Morrison S. Clinical and molecular studies of brachydactyly type D. Am J Med Genet. 1999 Aug 06; 85(4):413-8. PMID: 10398270.
    Citations: 1     Fields:    Translation:Humans
  120. 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. PMID: 10364524; PMCID: PMC1378082.
    Citations: 20     Fields:    Translation:HumansCells
  121. 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. PMID: 10080184.
    Citations: 52     Fields:    Translation:HumansAnimals
  122. 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. PMID: 9973295; PMCID: PMC1377767.
    Citations: 3     Fields:    Translation:HumansCells
  123. 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. PMID: 9671738; PMCID: PMC21136.
    Citations: 24     Fields:    Translation:AnimalsCells
  124. 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. PMID: 9634515; PMCID: PMC1377238.
    Citations: 6     Fields:    Translation:HumansCells
  125. 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. PMID: 9550484.
    Citations: 24     Fields:    Translation:HumansCells
  126. 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. PMID: 9529347; PMCID: PMC1377029.
    Citations: 21     Fields:    Translation:HumansCells
  127. Meisler MH, Griffith AJ, Warman M, Tiller G, Sprunger LK. Gene symbol: COL11A1. Disease: Marshall syndrome. Hum Genet. 1998 Apr; 102(4):498. PMID: 9600252.
    Citations: 1     Fields:    Translation:HumansCells
  128. 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. PMID: 9506662.
    Citations: 22     Fields:    Translation:Humans
  129. 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. PMID: 9730604.
    Citations:    Fields:    Translation:HumansCells
  130. 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. PMID: 9288091.
    Citations: 54     Fields:    Translation:HumansCells
  131. Cheung DS, Warman ML, Mulliken JB. Hemangioma in twins. Ann Plast Surg. 1997 Mar; 38(3):269-74. PMID: 9088466.
    Citations: 6     Fields:    Translation:Humans
  132. 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. PMID: 9024575.
    Citations: 2     Fields:    Translation:HumansCells
  133. 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. PMID: 8980225.
    Citations: 126     Fields:    Translation:HumansCells
  134. 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. PMID: 8659519; PMCID: PMC1915094.
    Citations: 48     Fields:    Translation:HumansCells
  135. 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 08; 785:303-6. PMID: 8702162.
    Citations: 3     Fields:    Translation:HumansCells
  136. Mulliken JB, Warman ML. Molecular genetics and craniofacial surgery. Plast Reconstr Surg. 1996 Mar; 97(3):666-75. PMID: 8596804.
    Citations: 1     Fields:    Translation:HumansCells
  137. 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. PMID: 8528240.
    Citations: 35     Fields:    Translation:HumansCells
  138. 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. PMID: 8586434.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  139. 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. PMID: 7539836.
    Citations: 8     Fields:    Translation:Humans
  140. 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. PMID: 7783168; PMCID: PMC1050316.
    Citations: 22     Fields:    Translation:HumansCells
  141. 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. PMID: 7859283.
    Citations: 76     Fields:    Translation:AnimalsCells
  142. 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. PMID: 7711736.
    Citations: 25     Fields:    Translation:HumansCells
  143. 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. PMID: 7942845; PMCID: PMC1918298.
    Citations: 14     Fields:    Translation:HumansCells
  144. 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 01; 23(1):158-62. PMID: 7829066.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  145. 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. PMID: 7833911.
    Citations: 18     Fields:    Translation:HumansCells
  146. 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. PMID: 7833915.
    Citations: 30     Fields:    Translation:HumansCells
  147. 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. PMID: 7907311.
    Citations: 17     Fields:    Translation:HumansCells
  148. Jacenko O, Olsen BR, Warman ML. Of mice and men: heritable skeletal disorders. Am J Hum Genet. 1994 Feb; 54(2):163-8. PMID: 8304335; PMCID: PMC1918165.
    Citations: 3     Fields:    Translation:HumansAnimals
  149. 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. PMID: 8188291.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  150. 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. PMID: 8004099.
    Citations: 5     Fields:    Translation:HumansCells
  151. 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. PMID: 8300996.
    Citations: 2     Fields:    Translation:HumansCells
  152. 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. PMID: 8061915.
    Citations:    Fields:    Translation:HumansAnimalsCells
  153. 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. PMID: 8307577.
    Citations: 12     Fields:    Translation:HumansCells
  154. 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 05; 75(3):443-50. PMID: 8106171.
    Citations: 104     Fields:    Translation:HumansCells
  155. 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. PMID: 8244386.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  156. 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. PMID: 8220429.
    Citations: 43     Fields:    Translation:HumansAnimalsCells
  157. Warman ML, Mulliken JB, Hayward PG, Müller U. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet. 1993 Jun 01; 46(4):444-9. PMID: 8357019.
    Citations: 10     Fields:    Translation:Humans
  158. 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. PMID: 7684111.
    Citations: 2     Fields:    Translation:HumansCells
  159. 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. PMID: 8499900.
    Citations: 9     Fields:    Translation:HumansCells
  160. 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. PMID: 3385528.
    Citations: 6     Fields:    Translation:HumansCells
  161. Warman M, Boskey AL. Effect of high levels of corticosteroids on the lipids of the long bones of the mature rabbit. Metab Bone Dis Relat Res. 1983; 4(5):319-24. PMID: 6621357.
    Citations: 4     Fields:    Translation:Animals
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.