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Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice. JCI Insight. 2026 Jan 23; 11(2). Nevarez L, Ismaili TK, Zieba J, Martin J, Wachtell D, Diaz D, Ramirez JA, Aceves V, Ito J, Gray RS, Goldstein D, Sahdeo S, Krakow D, Cohn DH. PMID: 41574606; PMCID: PMC12892883.
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Inhibition of FGFR signaling with infigratinib improves linear bone growth in the female Aga2/+ mouse model of osteogenesis imperfecta. JBMR Plus. 2026 Mar; 10(3):ziag005. Kot A, Wight C, Bagheri R, Wachtell D, Rios A, Bober B, Chun C, Krejci P, Zieba J, Krakow D. PMID: 41641077; PMCID: PMC12866916.
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Placenta accreta spectrum: disrupted collagen architecture at a previous scar is a defining characteristic of placental adherence. Am J Obstet Gynecol. 2026 Jan; 233(6S):S645-S661.e1. Kashani Ligumsky L, Jeong A, Martinez G, Marks H, Shah S, Staniczek J, Smith CE, Shainker SA, Karumanchi SA, Bentolila LA, Krakow D, Megli CJ, Afshar Y. PMID: 41485849.
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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. J Bone Miner Res. 2025 Nov 28. Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel. PMID: 41313243.
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Impact of Labor in Primary Cesarean Delivery on Subsequent Risk of Placenta Accreta. Am J Perinatol. 2025 Sep 16. Kashani Ligumsky L, Lopian M, Jeong A, Desmond A, Elmalech A, Many A, Martinez G, Krakow D, Afshar Y. PMID: 40957594.
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Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors. Cell Commun Signal. 2025 Apr 30; 23(1):209. Bosakova M, Abraham SP, Wachtell D, Zieba JT, Kot A, Nita A, Czyrek AA, Koudelka A, Ursachi VC, Feketova Z, Rico-Llanos G, Svozilova K, Kocerova P, Fafilek B, Gregor T, Kotaskova J, Duran I, Vanhara P, Doubek M, Mayer J, Soucek K, Krakow D, Krejci P. PMID: 40307870; PMCID: PMC12044870.
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Increased thermal stability of FGF10 leads to ectopic signaling during development. Cell Mol Life Sci. 2025 Apr 21; 82(1):167. Czyrek AA, Baran K, Hruba E, Horackova A, Bosakova V, Chudzian J, Fafilek B, Laskova V, Stepankova V, Bednar D, Karl K, Kasparek P, Bosakova M, Killinger M, Szotkowska T, Prochazka J, Zieba JT, Rico-Llanos G, Fric J, Hadzic S, Loku E, Wujak M, Svozilova K, Stroblova M, Sedlacek R, Hristova K, Krakow D, Kubovciak J, Delattre M, Bartoszewski R, Buchtova M, Krowarsch D, Chaloupkova R, Zakrzewska M, Krejci P. PMID: 40257501; PMCID: PMC12011707.
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Biology and Pathophysiology of Placenta Accreta Spectrum Disorder. Obstet Gynecol. 2025 Jun 01; 145(6):611-620. Afshar Y, Kashani Ligumsky L, Bartels HC, Krakow D. PMID: 40209229; PMCID: PMC12068549.
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Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. J Bone Miner Res. 2024 Nov 29; 39(12):1783-1792. Rico-Llanos G, Spoutil F, Blahova E, Koudelka A, Prochazkova M, Czyrek A, Fafilek B, Prochazka J, Gonzalez Lopez M, Krivanek J, Sedlacek R, Krakow D, Nonaka Y, Nakamura Y, Krejci P. PMID: 39423254; PMCID: PMC11638852.
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Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta. J Bone Miner Res. 2024 Sep 02; 39(9):1240-1252. Kot A, Chun C, Martin JH, Wachtell D, Hudson D, Weis M, Marks H, Srivastava S, Eyre DR, Duran I, Zieba J, Krakow D. PMID: 39088537; PMCID: PMC11371901.
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Editorial: Research advances in understanding the etiology, epidemiology, pathophysiology, clinical features, and management of the Ehlers Danlos syndrome disorders. Front Med (Lausanne). 2024; 11:1364308. Francomano CA, Maitland A, Krakow D, Maier CL. PMID: 39104859; PMCID: PMC11298797.
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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. Am J Med Genet A. 2024 09; 194(9):e63646. MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G. PMID: 38702915.
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The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities. Am J Perinatol. 2024 03; 41(4):383-394. Francoeur AA, Kang SL, Senaratne TN, Saitta S, Murali A, Peters K, Hansman E, Chen A, Parvataneni R, Patil R, Rible R, Sridhar A, Stoddard A, Zapata M, Krakow D, Pluym ID. PMID: 38154468.
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Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth. JCI Insight. 2023 11 08; 8(21). Zieba J, Nevarez L, Wachtell D, Martin JH, Kot A, Wong S, Cohn DH, Krakow D. PMID: 37796615; PMCID: PMC10721276.
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 11; 19(11):e1011005. Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. PMID: 37934770; PMCID: PMC10656020.
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Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 05; 191(5):1164-1209. Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. PMID: 36779427; PMCID: PMC10081954.
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Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR. Front Cell Dev Biol. 2022; 10:963389. Csukasi F, Bosakova M, Barta T, Martin JH, Arcedo J, Barad M, Rico-Llanos GA, Zieba J, Becerra J, Krejci P, Duran I, Krakow D. PMID: 36726589; PMCID: PMC9885499.
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Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model. Bone Res. 2022 Apr 26; 10(1):37. Zieba J, Forlenza KN, Heard K, Martin JH, Bosakova M, Cohn DH, Robertson SP, Krejci P, Krakow D. PMID: 35474298; PMCID: PMC9042866.
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4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. Duran I, Zieba J, Csukasi F, Martin JH, Wachtell D, Barad M, Dawson B, Fafilek B, Jacobsen CM, Ambrose CG, Cohn DH, Krejci P, Lee BH, Krakow D. PMID: 34997935; PMCID: PMC9018561.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. PMID: 34519438; PMCID: PMC8580094.
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Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta. Proc Natl Acad Sci U S A. 2021 06 22; 118(25). Lim J, Lietman C, Grol MW, Castellon A, Dawson B, Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH. PMID: 34161280; PMCID: PMC8237619.
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Innovations in MD-only physician-scientist training: experiences from the Burroughs Wellcome Fund physician-scientist institutional award initiative. J Clin Invest. 2021 05 17; 131(10). McElvaine AT, Hawkins-Salsbury JA, Arora VM, Gladwin MT, Goldenring JR, Huston DP, Krakow D, Rhee K, Solway J, Steinman RA, Towler DA, Utz PJ, Yokoyama WM, Simpson RL, Muglia LJ, Permar SR, Gbadegesin RA. PMID: 33998594; PMCID: PMC8121502.
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An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice. Sci Transl Med. 2021 05 05; 13(592). Kimura T, Bosakova M, Nonaka Y, Hruba E, Yasuda K, Futakawa S, Kubota T, Fafilek B, Gregor T, Abraham SP, Gomolkova R, Belaskova S, Pesl M, Csukasi F, Duran I, Fujiwara M, Kavkova M, Zikmund T, Kaiser J, Buchtova M, Krakow D, Nakamura Y, Ozono K, Krejci P. PMID: 33952673.
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Revisiting Skeletal Dysplasias in the Newborn. Neoreviews. 2021 04; 22(4):e216-e229. Langston SJ, Krakow D, Chu A. PMID: 33795397.
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Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362. Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. PMID: 33781976; PMCID: PMC9448563.
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Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People. Obstet Gynecol. 2020 12; 136(6):1117-1125. Afshar Y, Gaw SL, Flaherman VJ, Chambers BD, Krakow D, Berghella V, Shamshirsaz AA, Boatin AA, Aldrovandi G, Greiner A, Riley L, Boscardin WJ, Jamieson DJ, Jacoby VL, Pregnancy CoRonavIrus Outcomes RegIsTrY (PRIORITY) Study. PMID: 33027186; PMCID: PMC7673633.
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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. EBioMedicine. 2020 Dec; 62:103075. Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. PMID: 33242826; PMCID: PMC7695969.
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med. 2020 11 06; 12(11):e11739. Bosakova M, Abraham SP, Nita A, Hruba E, Buchtova M, Taylor SP, Duran I, Martin J, Svozilova K, Barta T, Varecha M, Balek L, Kohoutek J, Radaszkiewicz T, Pusapati GV, Bryja V, Rush ET, Thiffault I, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Rohatgi R, Cohn DH, Krakow D, Krejci P. PMID: 33200460; PMCID: PMC7645380.
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Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis. Am J Med Genet A. 2020 08; 182(8):1896-1905. Kashanian A, Chan J, Mukherjee D, Pressman BD, Krakow D, Danielpour M. PMID: 32525257.
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Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019 12; 179(12):2393-2419. Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. PMID: 31633310.
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
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Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases. J Clin Densitom. 2020 Jan - Mar; 23(1):1-20. Lewiecki EM, Bilezikian JP, Kagan R, Krakow D, McClung MR, Miller PD, Rush ET, Shuhart CR, Watts NB, Yu EW. PMID: 31685420.
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Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat. 2019 12; 40(12):2344-2352. Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. PMID: 31389106; PMCID: PMC7608528.
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The α2 chain of type IX collagen is essential for type IX collagen biosynthesis. Am J Med Genet A. 2019 08; 179(8):1672-1677. Balasubramanian K, Weis M, Eyre DR, Martin J, Ortiz-Sanchez J, Duran I, Vangala S, Wang J, Friedman RA, Krakow D, Cohn DH. PMID: 31161720.
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Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase. Proc Natl Acad Sci U S A. 2019 03 05; 116(10):4316-4325. Kunova Bosakova M, Nita A, Gregor T, Varecha M, Gudernova I, Fafilek B, Barta T, Basheer N, Abraham SP, Balek L, Tomanova M, Fialova Kucerova J, Bosak J, Potesil D, Zieba J, Song J, Konik P, Park S, Duran I, Zdrahal Z, Smajs D, Jansen G, Fu Z, Ko HW, Hampl A, Trantirek L, Krakow D, Krejci P. PMID: 30782830; PMCID: PMC6410813.
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. PMID: 30773277; PMCID: PMC6408318.
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A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio. Prenat Diagn. 2019 02; 39(3):200-208. Rao R, Gornbein J, Afshar Y, Platt LD, DeVore GR, Krakow D. PMID: 30488473; PMCID: PMC8805676.
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First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability. J Ultrasound Med. 2019 Aug; 38(8):2161-2167. Afshar Y, Gutkin R, Krakow D, Cuckle H, Silverman NS, Platt LD. PMID: 30593696.
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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606. Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR, Members of the BBD Consortium. PMID: 30593885; PMCID: PMC6594916.
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The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. Sci Transl Med. 2018 09 19; 10(459). Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D. PMID: 30232230; PMCID: PMC7529349.
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The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases. Sci Signal. 2018 09 18; 11(548). Fafilek B, Balek L, Bosakova MK, Varecha M, Nita A, Gregor T, Gudernova I, Krenova J, Ghosh S, Piskacek M, Jonatova L, Cernohorsky NH, Zieba JT, Kostas M, Haugsten EM, Wesche J, Erneux C, Trantirek L, Krakow D, Krejci P. PMID: 30228226; PMCID: PMC12677889.
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Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. Hum Mol Genet. 2018 03 15; 27(6):1093-1105. 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. PMID: 29360984; PMCID: PMC5886260.
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NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. Am J Med Genet A. 2018 03; 176(3):649-656. Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D. PMID: 29363855; PMCID: PMC7836020.
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Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network. BMC Genomics. 2017 Dec 20; 18(1):983. Li B, Balasubramanian K, Krakow D, Cohn DH. PMID: 29262782; PMCID: PMC5738906.
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 01; 39(1):152-166. Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M, University of Washington Center for Mendelian Genomics, Lachman RS, Krakow D, Cohn DH. PMID: 29068549; PMCID: PMC6198324.
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823. 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, Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. PMID: 29100092; PMCID: PMC5673654.
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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. Balek L, Nemec P, Konik P, Kunova Bosakova M, Varecha M, Gudernova I, Medalova J, Krakow D, Krejci P. PMID: 29030113.
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Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18; 3:17052. 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. PMID: 28820180.
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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. Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH. PMID: 28742282; PMCID: PMC5564418.
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 Jul; 173(7):1739-1746. 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. PMID: 28498505.
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Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia. 2017; 6:7. Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D. PMID: 28400947; PMCID: PMC5387211.
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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. Duran I, Martin JH, Weis MA, Krejci P, Konik P, Li B, Alanay Y, Lietman C, Lee B, Eyre D, Cohn DH, Krakow D. PMID: 28177155; PMCID: PMC5466459.
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Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun; 32(6):1354-1367. 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. PMID: 28206698; PMCID: PMC5466482.
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A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep. 2017 02 16; 7:41803. 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. PMID: 28205584; PMCID: PMC5311977.
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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. Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B. PMID: 27935951; PMCID: PMC5147806.
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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. Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D. PMID: 27666822; PMCID: PMC5035930.
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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. PLoS Genet. 2016 09; 12(9):e1006307. Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B. PMID: 27622494; PMCID: PMC5021280.
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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A. 2016 12; 170(12):3298-3302. Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH. PMID: 27530454; PMCID: PMC5115972.
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Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. 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, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. PMID: 27463398.
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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. Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M, University of Washington Center for Mendelian Genomics Consortium, Krakow D, Cohn DH. PMID: 27466190; PMCID: PMC5291235.
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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. 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, University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P. PMID: 27466187; PMCID: PMC5291234.
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 08 04; 99(2):392-406. 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. PMID: 27426733; PMCID: PMC4974064.
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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 10; 170(10):2652-61. 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. PMID: 27240702; PMCID: PMC5538138.
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. 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, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. PMID: 27158779; PMCID: PMC4978421.
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Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2016 Mar 29; 7:11270. 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, UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. PMID: 27021811; PMCID: PMC4820607.
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TGFβ 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. Zieba J, Forlenza KN, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Cohn DH, Merrill AE, Krakow D. PMID: 27019229; PMCID: PMC4809497.
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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16; 6:7092. Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D. PMID: 26077881; PMCID: PMC4470332.
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074. 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, UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. PMID: 26044572; PMCID: PMC4468853.
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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. Benedict K, Han CS, Silverman NS, Krakow D, Platt LD. PMID: 25871731.
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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. Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH, University of Washington Center for Mendelian Genomics. PMID: 25997753; PMCID: PMC5036935.
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9. 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, University of Washington Center for Mendelian Genomics, Bamshad MJ. PMID: 25957469; PMCID: PMC4570285.
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Skeletal dysplasias. Clin Perinatol. 2015 Jun; 42(2):301-19, viii. Krakow D. PMID: 26042906; PMCID: PMC4456691.
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HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. Hum Mol Genet. 2015 Apr 01; 24(7):1918-28. Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH. PMID: 25510505; PMCID: PMC4355024.
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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. Martin BM, Ivanova MH, Sarukhanov A, Kim A, Power P, Pugash D, Popescu OE, Lachman RS, Krakow D, Patel MS. PMID: 24995648.
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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. Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M. PMID: 24971605.
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Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A. 2014 Sep; 164A(9):2407-11. Li B, Krakow D, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. PMID: 24953221; PMCID: PMC4134718.
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Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. Hum Mol Genet. 2014 Nov 01; 23(21):5659-71. Neben CL, Idoni B, Salva JE, Tuzon CT, Rice JC, Krakow D, Merrill AE. PMID: 24908667; PMCID: PMC4189901.
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Connective tissue alterations in Fkbp10-/- mice. Hum Mol Genet. 2014 Sep 15; 23(18):4822-31. Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. PMID: 24777781; PMCID: PMC4140464.
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Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1. Stem Cells Dev. 2014 Jul 01; 23(13):1464-78. Saitta B, Passarini J, Sareen D, Ornelas L, Sahabian A, Argade S, Krakow D, Cohn DH, Svendsen CN, Rimoin DL. PMID: 24559391; PMCID: PMC4066255.
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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. Flick A, Krakow D, Martirosian A, Silverman N, Platt LD. PMID: 24530818.
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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 2013 Nov 07; 93(5):926-31. 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. PMID: 24183449; PMCID: PMC3824112.
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16. 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. PMID: 23656646; PMCID: PMC3709450.
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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. 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, University of Washington Center for Mendelian Genomics. PMID: 23273567; PMCID: PMC3542462.
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A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. Am J Med Genet A. 2012 Aug; 158A(8):1815-22. 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. PMID: 22711505; PMCID: PMC4164294.
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Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr 06; 90(4):746-51. Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. PMID: 22464252; PMCID: PMC3322224.
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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. 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. PMID: 22387015; PMCID: PMC3309195.
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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. 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. PMID: 22190451.
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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. Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH. PMID: 22246659; PMCID: PMC3264686.
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The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012 Jan; 42(1):15-23. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. PMID: 21863289.
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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. Gay O, Gilquin B, Nakamura F, Jenkins ZA, McCartney R, Krakow D, Deshiere A, Assard N, Hartwig JH, Robertson SP, Baudier J. PMID: 21709252; PMCID: PMC3136255.
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Mutations in the TGFβ 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. 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. PMID: 21683322; PMCID: PMC3135800.
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet. 2011 Jun; 48(6):417-21. 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. PMID: 21415077; PMCID: PMC4413937.
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Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May; 155A(5):943-68. 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. PMID: 21438135; PMCID: PMC3166781.
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar; 26(3):666-72. 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. PMID: 20839288; PMCID: PMC3179293.
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The skeleton and musculature on foetal MRI. Insights Imaging. 2011 Jun; 2(3):309-318. Nemec U, Nemec SF, Krakow D, Brugger PC, Malinger G, Graham JM, Rimoin DL, Prayer D. PMID: 22347955; PMCID: PMC3259321.
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Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12; 87(5):708-12. 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. PMID: 21035103; PMCID: PMC2978944.
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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. Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. PMID: 20869035; PMCID: PMC2948790.
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Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? Clin Dysmorphol. 2010 Oct; 19(4):175-180. Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF. PMID: 20717009.
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The skeletal dysplasias. Genet Med. 2010 Jun; 12(6):327-41. Krakow D, Rimoin DL. PMID: 20556869.
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Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11; 5(5):e10560. 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. PMID: 20485499; PMCID: PMC2868021.
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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May; 152A(5):1169-77. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. PMID: 20425821; PMCID: PMC4169191.
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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. 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. PMID: 20362275; PMCID: PMC2850430.
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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. Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V. PMID: 20186786.
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Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16. 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. PMID: 20089971; PMCID: PMC3108191.
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The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet A. 2009 Jun; 149A(6):1334-45. Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS. PMID: 19444897; PMCID: PMC2836257.
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Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr; 84(4):542-9. Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. PMID: 19361615; PMCID: PMC2667993.
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Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. PMID: 19232556; PMCID: PMC2667978.
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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 Feb; 11(2):127-33. Krakow D, Lachman RS, Rimoin DL. PMID: 19265753; PMCID: PMC2832320.
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A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet. 2009 Jan; 84(1):72-9. Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. PMID: 19110214; PMCID: PMC2668039.
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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008 Dec; 29(12):1435-42. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. PMID: 18566967; PMCID: PMC2671575.
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep; 40(9):1119-23. Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. PMID: 18677313; PMCID: PMC2675613.
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Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 01; 146A(15):1917-24. Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL. PMID: 18627037; PMCID: PMC2713784.
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Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 01; 146A(9):1230-3. Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. PMID: 18386804; PMCID: PMC2637032.
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Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. Cell Signal. 2008 Aug; 20(8):1471-7. Guo C, Degnin CR, Laederich MB, Lunstrum GP, Holden P, Bihlmaier J, Krakow D, Cho YJ, Horton WA. PMID: 18485666; PMCID: PMC2675614.
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Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. Am J Med Genet A. 2008 Mar 15; 146A(6):779-83. Mitter D, Krakow D, Farrington-Rock C, Meinecke P. PMID: 18257094.
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The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci. 2007 Nov; 1117:302-9. Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. PMID: 18056050.
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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008 Mar 01; 17(5):631-41. Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D. PMID: 17635842; PMCID: PMC2680151.
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Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone. 2007 Oct; 41(4):535-42. Hjorten R, Hansen U, Underwood RA, Telfer HE, Fernandes RJ, Krakow D, Sebald E, Wachsmann-Hogiu S, Bruckner P, Jacquet R, Landis WJ, Byers PH, Pace JM. PMID: 17693149; PMCID: PMC2030487.
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Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. 2007 Jun 12; 8:165. Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. PMID: 17565682; PMCID: PMC1906768.
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Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A. 2007 Jun 01; 143A(11):1159-68. Alanay Y, Krakow D, Rimoin DL, Lachman RS. PMID: 17486589.
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Polyvalvular disease in a fetus with normal chromosomes. Congenit Heart Dis. 2007 May-Jun; 2(3):214-7. Miller M, Krakow D, Pepkowitz S. PMID: 18377469.
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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007 Mar; 28(3):209-21. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. PMID: 17078022; PMCID: PMC4144349.
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Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage. Pediatr Res. 2007 Mar; 61(3):267-72. Krejci P, Krakow D, Mekikian PB, Wilcox WR. PMID: 17314681.
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Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12; 103(50):19004-9. Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. PMID: 17142326; PMCID: PMC1748167.
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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15; 140(16):1726-36. Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Macini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. PMID: 16835913.
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Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10. Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. PMID: 16752402.
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb; 44(2):89-98. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. PMID: 16801345; PMCID: PMC2598053.
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Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med. 2006 Jun; 8(6):383-8. Byers PH, Krakow D, Nunes ME, Pepin M, American college of medical genetics. PMID: 16778601; PMCID: PMC3110960.
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Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. Pediatr Radiol. 2006 Sep; 36(9):970-3. Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. PMID: 16715218.
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GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr; 78(4):708-12. Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J, Mundlos S, Krakow D. PMID: 16532400; PMCID: PMC1424701.
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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005 Sep; 115(9):2373-81. Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. PMID: 16127465; PMCID: PMC1190374.
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Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug; 77(2):305-12. Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. PMID: 15952089; PMCID: PMC1224532.
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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005 Feb; 35(2):116-23. Lachman RS, Krakow D, Cohn DH, Rimoin DL. PMID: 15503005.
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A transcriptional profile of human fetal cartilage. Matrix Biol. 2004 Aug; 23(5):299-307. Pogue R, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. PMID: 15464362.
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; 36(4):405-10. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. PMID: 14991055.
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Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library. Gene. 2003 Jun 05; 311:147-51. Sebald E, Krueger R, King LM, Cohn DH, Krakow D. PMID: 12853149.
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Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias. Mol Genet Metab. 2003 May; 79(1):34-42. Krakow D, Sebald ET, Pogue R, Rimoin LP, King L, Cohn DH. PMID: 12765844.
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar; 11(3):265-70. 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. PMID: 12673280.
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Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet. 2003 Feb; 72(2):419-28. Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. PMID: 12491225; PMCID: PMC420018.
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