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Krakow Deborah

TitleProfessor
InstitutionUniversity of California Los Angeles
DepartmentHuman Genetics
Address615 Charles E. Young Dr. So Rm 410
BOX 957358
Los Angeles CA 90095
Phone310-983-3049
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    Collapse Research 
    Collapse Research Activities and Funding
    Unraveling the mechanisms of prenatal-onset disorders affecting the skeleton
    NIH/NIAMS R01AR066124Apr 1, 2014 - Mar 31, 2019
    Role: Principal Investigator
    Short-rib polydactyly and the skeletal ciliopathies
    NIH/NIDCR R01DE019567Dec 1, 2008 - Jul 31, 2020
    Role: Co-Principal Investigator
    MOLECULAR GENETICS OF FACIO AUDIO SYMPHALANGISM
    NIH/NICHD K08HD001205Sep 1, 1997 - Aug 31, 2001
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P. Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. Hum Mol Genet. 2018 Mar 15; 27(6):1093-1105. PMID: 29360984.
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    2. Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D. NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. Am J Med Genet A. 2018 Mar; 176(3):649-656. PMID: 29363855.
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    3. Li B, Balasubramanian K, Krakow D, Cohn DH. Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network. BMC Genomics. 2017 Dec 20; 18(1):983. PMID: 29262782.
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    4. Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M, Lachman RS, Krakow D, Cohn DH. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan; 39(1):152-166. PMID: 29068549.
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    5. Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823. PMID: 29100092.
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    6. Balek L, Nemec P, Konik P, Kunova Bosakova M, Varecha M, Gudernova I, Medalova J, Krakow D, Krejci P. Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome. Cell Signal. 2018 Jan; 42:144-154. PMID: 29030113.
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    7. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18; 3:17052. PMID: 28820180.
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    8. Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A. 2017 Sep; 173(9):2415-2421. PMID: 28742282.
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    9. Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 May 12. PMID: 28498505.
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    10. Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia. 2017; 6:7. PMID: 28400947.
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    11. Duran I, Martin JH, Weis MA, Krejci P, Konik P, Li B, Alanay Y, Lietman C, Lee B, Eyre D, Cohn DH, Krakow D. A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. J Bone Miner Res. 2017 Jun; 32(6):1309-1319. PMID: 28177155.
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    12. Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH. Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun; 32(6):1354-1367. PMID: 28206698.
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    13. Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFß signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep. 2017 Feb 16; 7:41803. PMID: 28205584.
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    14. Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B. Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. PLoS Genet. 2016 Dec; 12(12):e1006502. PMID: 27935951.
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    15. Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep. 2016 Sep 26; 6:34232. PMID: 27666822.
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    16. Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. PLoS Genet. 2016 Sep; 12(9):e1006307. PMID: 27622494; PMCID: PMC5021280.
    17. Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A. 2016 Dec; 170(12):3298-3302. PMID: 27530454.
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    18. Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. PMID: 27463398.
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    19. Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M, Krakow D, Cohn DH. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet. 2016 09 15; 25(18):4012-4020. PMID: 27466190.
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    20. Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet. 2016 09 15; 25(18):3998-4011. PMID: 27466187.
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    21. Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 04; 99(2):392-406. PMID: 27426733; PMCID: PMC4974064 [Available on 02/04/17].
    22. Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. Am J Med Genet A. 2016 Oct; 170(10):2652-61. PMID: 27240702.
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    23. Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. PMID: 27158779; PMCID: PMC4978421 [Available on 11/09/16].
    24. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2016 Mar 29; 7:11270. PMID: 27021811; PMCID: PMC4820607.
    25. Zieba J, Forlenza KN, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Cohn DH, Merrill AE, Krakow D. TGFß and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions. PLoS Genet. 2016 Mar; 12(3):e1005936. PMID: 27019229; PMCID: PMC4809497.
    26. Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16; 6:7092. PMID: 26077881.
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    27. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074. PMID: 26044572.
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    28. Benedict K, Han CS, Silverman NS, Krakow D, Platt LD. Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing. Prenat Diagn. 2015 Aug; 35(8):823-5. PMID: 25871731.
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    29. Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH. A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A. 2015 Oct; 167A(10):2470-3. PMID: 25997753; PMCID: PMC5036935 [Available on 10/01/16].
    30. Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9. PMID: 25957469; PMCID: PMC4570285.
    31. Krakow D. Skeletal dysplasias. Clin Perinatol. 2015 Jun; 42(2):301-19, viii. PMID: 26042906; PMCID: PMC4456691.
    32. Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. Hum Mol Genet. 2015 Apr 01; 24(7):1918-28. PMID: 25510505; PMCID: PMC4355024.
    33. Martin BM, Ivanova MH, Sarukhanov A, Kim A, Power P, Pugash D, Popescu OE, Lachman RS, Krakow D, Patel MS. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders. Am J Med Genet A. 2014 Oct; 164A(10):2490-5. PMID: 24995648.
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    34. Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr. 2014 Sep; 14(3):238-44. PMID: 24971605.
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    35. Li B, Krakow D, Nickerson DA, Bamshad MJ, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A. 2014 Sep; 164A(9):2407-11. PMID: 24953221; PMCID: PMC4134718.
    36. Neben CL, Idoni B, Salva JE, Tuzon CT, Rice JC, Krakow D, Merrill AE. Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. Hum Mol Genet. 2014 Nov 01; 23(21):5659-71. PMID: 24908667; PMCID: PMC4189901.
    37. Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Connective tissue alterations in Fkbp10-/- mice. Hum Mol Genet. 2014 Sep 15; 23(18):4822-31. PMID: 24777781; PMCID: PMC4140464.
    38. Saitta B, Passarini J, Sareen D, Ornelas L, Sahabian A, Argade S, Krakow D, Cohn DH, Svendsen CN, Rimoin DL. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFß1. Stem Cells Dev. 2014 Jul 01; 23(13):1464-78. PMID: 24559391; PMCID: PMC4066255.
    39. Flick A, Krakow D, Martirosian A, Silverman N, Platt LD. Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation. Am J Obstet Gynecol. 2014 Aug; 211(2):139.e1-6. PMID: 24530818.
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    40. Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-?B pathway in cilia. Am J Hum Genet. 2013 Nov 07; 93(5):926-31. PMID: 24183449; PMCID: PMC3824112.
    41. Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16. PMID: 23656646; PMCID: PMC3709450.
    42. Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet. 2013 Jan 10; 92(1):137-43. PMID: 23273567; PMCID: PMC3542462.
    43. Baratela WA, Bober MB, Tiller GE, Okenfuss E, Ditro C, Duker A, Krakow D, Stabley DL, Sol-Church K, Mackenzie W, Lachman R, Scott CI. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. Am J Med Genet A. 2012 Aug; 158A(8):1815-22. PMID: 22711505; PMCID: PMC4164294.
    44. Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr 06; 90(4):746-51. PMID: 22464252; PMCID: PMC3322224.
    45. Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet. 2012 Mar 09; 90(3):550-7. PMID: 22387015; PMCID: PMC3309195.
    46. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2012 Apr; 33(4):665-73. PMID: 22190451.
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    47. Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012 Feb; 158A(2):309-14. PMID: 22246659; PMCID: PMC3264686.
    48. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012 Jan; 42(1):15-23. PMID: 21863289.
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    49. Gay O, Gilquin B, Nakamura F, Jenkins ZA, McCartney R, Krakow D, Deshiere A, Assard N, Hartwig JH, Robertson SP, Baudier J. RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28):11464-9. PMID: 21709252; PMCID: PMC3136255.
    50. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFß binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15; 89(1):7-14. PMID: 21683322; PMCID: PMC3135800.
    51. Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet. 2011 Jun; 48(6):417-21. PMID: 21415077; PMCID: PMC4413937.
    52. 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.
    53. Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar; 26(3):666-72. PMID: 20839288; PMCID: PMC3179293.
    54. Nemec U, Nemec SF, Krakow D, Brugger PC, Malinger G, Graham JM, Rimoin DL, Prayer D. The skeleton and musculature on foetal MRI. Insights Imaging. 2011 Jun; 2(3):309-318. PMID: 22347955.
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    55. Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12; 87(5):708-12. PMID: 21035103; PMCID: PMC2978944.
    56. Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet. 2010 Oct 08; 87(4):532-7. PMID: 20869035; PMCID: PMC2948790.
    57. Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF. Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? Clin Dysmorphol. 2010 Oct; 19(4):175-80. PMID: 20717009.
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    58. Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med. 2010 Jun; 12(6):327-41. PMID: 20556869.
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    59. Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11; 5(5):e10560. PMID: 20485499; PMCID: PMC2868021.
    60. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May; 152A(5):1169-77. PMID: 20425821; PMCID: PMC4169191.
    61. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 09; 86(4):551-9. PMID: 20362275; PMCID: PMC2850430.
    62. Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V. Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? Am J Med Genet A. 2010 Mar; 152A(3):539-46. PMID: 20186786.
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