News and publications

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

In the News

NOT all in the family: Tackling rare genetic diseases that aren't inherited,
Vector, June 8, 2012

Researchers at Boston Children's Hospital identify a genetic cause for CLOVES, a rare but debilitating overgrowth and malformation syndrome
Boston Children's Newsroom, May 31, 2012

Researchers find gene for 9-year-old girl's 1-in-a-million disease
WBUR, May 31, 2012

Children's Hospital discovers cause of rare CLOVES disease
Boston Business Journal, May 31, 2012

New Director of Orthopedic Research
Ortho Times, Dec 2006 (pdf)

Names and Faces
Pediatric Views, Jun 2006

The World's Densest Bones
The Scientist, Oct 2006 | Vol 20, Issue 10

Of Joints and Genes
HHMI Bulletin, Jun 2003 | Vol 16, No. 2

Select Peer Reviewed Publications

  1. Somatic mosiac activating mutations in PIK3CA cause CLOVES syndrome.  Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Am J Hum Genet. 2012 May 30. [Epub ahead of print]
  2. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.
    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. BMC Med Genet. 2012 Apr 10;13:26.
  3. Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing.
    Bowen ME, Henke K, Siegfried KR, Warman ML, Harris MP. Genetics. 2012 Mar;190(3):1017-24. Epub 2011 Dec 14.
  4. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
    Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic 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. Am J Hum Genet. 2011 Dec 9;89(6):767-72. Erratum in: Am J Hum Genet. 2012 Jan 13;90(1):170. Tanackovich, Goranka [corrected to Tanackovic, Goranka].
  5. Sox9 is upstream of microRNA-140 in cartilage.
    Nakamura Y, He X, Kato H, Wakitani S, Kobayashi T, Watanabe S, Iida A, Tahara H, Warman ML, Watanapokasin R, Postlethwait JH. Appl Biochem Biotechnol. 2012 Jan;166(1):64-71. Epub 2011 Nov 4.
  6. Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees.
    Drewniak EI, Jay GD, Fleming BC, Zhang L, Warman ML, Crisco JJ. Arthritis Rheum. 2012 Feb;64(2):465-73. doi: 10.1002/art.33337.
  7. High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes.
    Niziolek PJ, Farmer TL, Cui Y, Turner CH, Warman ML, Robling AG. Bone. 2011 Nov;49(5):1010-9. Epub 2011 Aug 9.
  8. The mechanical properties of tail tendon fascicles from lubricin knockout, wild type and heterozygous mice.
    Reuvers J, Thoreson AR, Zhao C, Zhang L, Jay GD, An KN, Warman ML, Amadio PC.J Struct Biol. 2011 Oct;176(1):41-5. Epub 2011 Jul 29.
  9. Lrp5 functions in bone to regulate bone mass.
    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. Nat Med. 2011 Jun;17(6):684-91. Epub 2011 May 22.
  10. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
    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. PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.
  11. Nosology and classification of genetic skeletal disorders: 2010 revision.
    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. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Review.
  12. Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25.
    Nakamura Y, Yamamoto K, He X, Otsuki B, Kim Y, Murao H, Soeda T, Tsumaki N, Deng JM, Zhang Z, Behringer RR, Crombrugghe B, Postlethwait JH, Warman ML, Nakamura T, Akiyama H. Nat Commun. 2011;2:251.
  13. Expansion thoracoplasty affects lung growth and morphology in a rabbit model: a pilot study.
    Olson JC, Kurek KC, Mehta HP, Warman ML, Snyder BD. Clin Orthop Relat Res. 2011 May;469(5):1375-82.
  14. Tendon fascicle gliding in wild type, heterozygous, and lubricin knockout mice.
    Kohrs RT, Zhao C, Sun YL, Jay GD, Zhang L, Warman ML, An KN, Amadio PC. J Orthop Res. 2011 Mar;29(3):384-9. doi: 10.1002/jor.21247. Epub 2010 Sep 30.
  15. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 
    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. N Engl J Med. 2010 Jan 21;362(3):206-16.
  16. Temporal and spatial expression of CCN genes in zebrafish.
    Fernando CA, Conrad PA, Bartels CF, Marques T, To M, Balow SA, Nakamura Y, Warman ML.
    Dev Dyn. 2010 Jun;239(6):1755-67.
  17. Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4.
    Coles JM, Zhang L, Blum JJ, Warman ML, Jay GD, Guilak F, Zauscher S. Arthritis Rheum. 2010 Jun;62(6):1666-74.
  18. Synovial fibroblasts self-direct multicellular lining architecture and synthetic function in three-dimensional organ culture.
    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. Arthritis Rheum. 2010 Mar;62(3):742-52.
  19. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
    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. N Engl J Med. 2010 Jan 21;362(3):206-16.
  20. Normal growth and development in mice over-expressing the CCN family member WISP3.
    Nakamura Y, Cui Y, Fernando C, Kutz WE, Warman ML. J Cell Commun Signal. 2009 Jun;3(2):105-13. Epub 2009 Apr 29.
  21. 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.
    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.
    Hum Mutat. 2009 Apr;30(4):641-8.
  22. Unique roles of microRNA140 and its host gene WWP2 in cartilage biology.
    Nakamura Y, He X, Kobayashi T, Yan YL, Postlethwait JH, Warman ML. J Musculoskelet Neuronal Interact. 2008 Oct-Dec;8(4):321-2. Review. No abstract available.
  23. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. 
    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. Am J Hum Genet. 2009 Jan;84(1):44-51.
  24. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.
    Nakamura Y, Weidinger G, Liang JO, Aquilina-Beck A, Tamai K, Moon RT, Warman ML. J Clin Invest. 2007 Oct;117(10):3075-86.
  25. The role of lubricin in the mechanical behavior of synovial fluid.
    Jay GD, Torres JR, Warman ML, Laderer MC, Breuer KS. Proc Natl Acad Sci 2007 Apr; 104(15):6194-9.
  26. The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment.
    Sawakami K, Robling AG, Ali M, Pitner ND, Liu D, Warden SJ, Li J, Maye P, Rowe DW, Duncan RL, Warman ML, Turner CH. J Biol Chem 2006 Aug; 281(33):23698-711.
  27. Hip joint replacement surgery for idiopathic osteoarthritis aggregates in families.
    Bukulmez H, Matthews AL, Sullivan CM, Chen C, Kraay MJ, Elston RC, Moskowitz RW, Goldberg VM, Warman ML. Arthritis Res Ther 2006;8(1):R25. Epub 2006 Jan 3.
  28. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
    Okajima K, Warman ML, Byrne LC, Kerr DS. Mol Genet Metab 2006 Feb;87(2):162-8. Epub 2006 Jan 18.
  29. Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.
    Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y,Laxer R, Goldbach-Mansky R, Warman ML. J Biol Chem. 2005. Jul 5;(Epub).
  30. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.
    Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD. J Clin INvest 2005 Mar; 115(3):622-631.
  31. WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.
    Kutz WE, Gong Y, Warman ML. Mol Cell Biol 2005 Jan;25(1):414-421.
  32. 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.
    Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML. Mol Cell Biol 2005 Jun;25(12):4946-55.
  33. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
    Bartels CF, Bukulmez 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. Am J Hum Genet 2004 Jul;75(1):27-34.
  34. Cohen syndrome in the Ohio Amish.
    Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Am J Med Genet 2004 Jul 1;128A(1):23-8.
  35. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.
    Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Warman ML . Ann Neurol 2004 Feb; 55(2):291-4.
  36. Autosomal dominant acute necrotizing encephalopathy.
    Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Warman ML, Kerr DS. Neurology 2003 Jul22;61(2):226-30.
  37. Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density.
    Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W. Am J Hum Genet 2003 Mar;72(3):763-71.
  38. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.
    Falk MJ, Heeger S, Lynch K, DeCaro K, Bohach D, Warman ML. Pediatrics 2003 Mar;111(3):573-8.
  39. The mutational spectrum of Brachydactyly type C.
    Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman, ML. Am J Med Genet. 2002 Oct 15;112(3):291-6.
  40. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
    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, Juppner 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. Cell 2001 Nov 16;107(4):513-23.
  41. Bone brittleness varies with genetic background in A/J and C57BL/6J inbred mice.
    Jepsen KJ, Pennington DE, Lee, YL, Warman M, Nadeau J. J. Bone Miner. Res 16:1854-1862.
  42. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.
    Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML. Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11353-8. Epub 2001 Sep 18.
  43. Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT).
    Truett GE, Heeger P, Mynatt RL, Truett AA, Walker JA, Warman ML. Biotechniques. 2000 Jul;29(1):52, 54.
  44. Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
    Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Am J Hum Genet 1999 64:570-577.
  45. Heterozygous mutations in the gene encoding NOGGIN affect human joint morphogenesis.
    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. Nature Genet 1999 21:302-304.
  46. Mutations in the CCN family member WISP3 cause progressive pseudorheumatoid dysplasia.
    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. Nature Genet 1999 23:94-98.
  47. CACP encodes a secreted proteoglycan that is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
    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. Nature Genet 1999 24:319-322.


Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
More optionsSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Visitor Information
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close