Deborah Krakow
Dr. Deborah Krakow holds the Joshua S. and Beth C. Friedman Chair for Women's Genetic Research.
Publications:
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. Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors. Cell Commun Signal. 2025 Apr 30; 23(1):209. view on PubMed
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. Increased thermal stability of FGF10 leads to ectopic signaling during development. Cell Mol Life Sci. 2025 Apr 21; 82(1):167. view on PubMed
Afshar Y, Kashani Ligumsky L, Bartels HC, Krakow D. Biology and Pathophysiology of Placenta Accreta Spectrum Disorder. Obstet Gynecol. 2025 Jun 01; 145(6):611-620. view on PubMed
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. 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. view on PubMed
Kot A, Chun C, Martin JH, Wachtell D, Hudson D, Weis M, Marks H, Srivastava S, Eyre DR, Duran I, Zieba J, Krakow D. 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. view on PubMed
Francomano CA, Maitland A, Krakow D, Maier CL. 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. view on PubMed
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. 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. view on PubMed
Altendahl MR, Xu L, Asiodu I, Boscardin WJ, Gaw SL, Flaherman VJ, Jacoby VL, Richards MC, Krakow D, Afshar Y. Patterns of peripartum depression and anxiety during the pre-vaccine COVID-19 pandemic. BMC Pregnancy Childbirth. 2024 Apr 25; 24(1):310. view on PubMed
Afshar Y, Yin O, Jeong A, Martinez G, Kim J, Ma F, Jang C, Tabatabaei S, You S, Tseng HR, Zhu Y, Krakow D. Placenta accreta spectrum disorder at single-cell resolution: a loss of boundary limits in the decidua and endothelium. Am J Obstet Gynecol. 2024 04; 230(4):443.e1-443.e18. view on PubMed
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. The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities. Am J Perinatol. 2024 03; 41(4):383-394. view on PubMed
Zieba J, Nevarez L, Wachtell D, Martin JH, Kot A, Wong S, Cohn DH, Krakow D. Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth. JCI Insight. 2023 11 08; 8(21). view on PubMed
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. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005. view on PubMed
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. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 05; 191(5):1164-1209. view on PubMed
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. 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. view on PubMed
Altendahl MR, Xu L, Asiodu I, Boscardin J, Gaw SL, Flaherman VJ, Jacoby VL, Richards MC, Krakow D, Afshar Y. Patterns of Peripartum Depression and Anxiety During the Pre-Vaccine COVID-19 Pandemic. Res Sq. 2022 Dec 13. view on PubMed
Zieba J, Forlenza KN, Heard K, Martin JH, Bosakova M, Cohn DH, Robertson SP, Krejci P, Krakow D. 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. view on PubMed
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. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. view on PubMed
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. 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. view on PubMed
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. 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). view on PubMed
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. An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice. Sci Transl Med. 2021 05 05; 13(592). view on PubMed
Langston SJ, Krakow D, Chu A. Revisiting Skeletal Dysplasias in the Newborn. Neoreviews. 2021 04; 22(4):e216-e229. view on PubMed
Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362. view on PubMed
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. Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People. Obstet Gynecol. 2020 12; 136(6):1117-1125. view on PubMed
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. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. EBioMedicine. 2020 Dec; 62:103075. view on PubMed
Pluym ID, Holliman K, Afshar Y, Lee CC, Richards MC, Han CS, Krakow D, Rao R. Emergency department use among postpartum women with mental health disorders. Am J Obstet Gynecol MFM. 2021 01; 3(1):100269. view on PubMed
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. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med. 2020 11 06; 12(11):e11739. view on PubMed
Kashanian A, Chan J, Mukherjee D, Pressman BD, Krakow D, Danielpour M. 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. view on PubMed
Mei JY, Negi M, Han CS, Rao R, Krakow D, Afshar Y. Gender representation of speakers at the Society for Maternal-Fetal Medicine postgraduate courses: a 20-year review. Am J Obstet Gynecol MFM. 2020 08; 2(3):100131. view on PubMed
Pluym ID, Sklansky M, Wu JY, Afshar Y, Holliman K, Devore GR, Walden A, Platt LD, Krakow D. Fetal cardiac rhabdomyomas treated with maternal sirolimus. Prenat Diagn. 2020 02; 40(3):358-364. view on PubMed
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. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019 12; 179(12):2393-2419. view on PubMed
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. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. view on PubMed
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat. 2019 12; 40(12):2344-2352. view on PubMed
Balasubramanian K, Weis M, Eyre DR, Martin J, Ortiz-Sanchez J, Duran I, Vangala S, Wang J, Friedman RA, Krakow D, Cohn DH. 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. view on PubMed
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. 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. view on PubMed
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. 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. view on PubMed
Rao R, Gornbein J, Afshar Y, Platt LD, DeVore GR, Krakow D. 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. view on PubMed
Afshar Y, Gutkin R, Krakow D, Cuckle H, Silverman NS, Platt LD. First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability. J Ultrasound Med. 2019 Aug; 38(8):2161-2167. view on PubMed
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR, Members of the BBD Consortium. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606. view on PubMed
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. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. Sci Transl Med. 2018 09 19; 10(459). view on PubMed
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. The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases. Sci Signal. 2018 09 18; 11(548). view on PubMed
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 03 15; 27(6):1093-1105. view on PubMed
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 03; 176(3):649-656. view on PubMed
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. view on PubMed
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. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 01; 39(1):152-166. view on PubMed
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. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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 Jul; 173(7):1739-1746. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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 TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep. 2017 02 16; 7:41803. view on PubMed
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. view on PubMed
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. view on PubMed
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 09; 12(9):e1006307. view on PubMed
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 12; 170(12):3298-3302. view on PubMed
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. 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. view on PubMed
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. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. view on PubMed
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M, University of Washington Center for Mendelian Genomics Consortium, 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. view on PubMed
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 08 04; 99(2):392-406. view on PubMed
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 10; 170(10):2652-61. view on PubMed
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. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. view on PubMed
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. Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2016 Mar 29; 7:11270. view on PubMed
Zieba J, Forlenza KN, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Cohn DH, Merrill AE, Krakow D. 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. view on PubMed
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. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16; 6:7092. view on PubMed
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. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074. view on PubMed
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. view on PubMed
Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH, University of Washington Center for Mendelian Genomics. 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. view on PubMed
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. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9. view on PubMed
Krakow D. Skeletal dysplasias. Clin Perinatol. 2015 Jun; 42(2):301-19, viii. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A. 2014 Sep; 164A(9):2407-11. view on PubMed
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. view on PubMed
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. view on PubMed
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 TGFβ1. Stem Cells Dev. 2014 Jul 01; 23(13):1464-78. view on PubMed
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. view on PubMed
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-κB pathway in cilia. Am J Hum Genet. 2013 Nov 07; 93(5):926-31. view on PubMed
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. view on PubMed
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. 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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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 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. view on PubMed
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. view on PubMed
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May; 155A(5):943-68. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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):175-180. view on PubMed
Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med. 2010 Jun; 12(6):327-41. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
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. view on PubMed
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16. view on PubMed
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet A. 2009 Jun; 149A(6):1334-45. view on PubMed
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. 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. view on PubMed
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. 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. view on PubMed
Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 Feb; 11(2):127-33. view on PubMed
Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. 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. view on PubMed
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. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008 Dec; 29(12):1435-42. view on PubMed
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. 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. view on PubMed
Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 01; 146A(15):1917-24. view on PubMed
Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. 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. view on PubMed
Guo C, Degnin CR, Laederich MB, Lunstrum GP, Holden P, Bihlmaier J, Krakow D, Cho YJ, Horton WA. Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. Cell Signal. 2008 Aug; 20(8):1471-7. view on PubMed
Mitter D, Krakow D, Farrington-Rock C, Meinecke P. 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. view on PubMed
Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci. 2007 Nov; 1117:302-9. view on PubMed
Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008 Mar 01; 17(5):631-41. view on PubMed
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. Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone. 2007 Oct; 41(4):535-42. view on PubMed
Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. 2007 Jun 12; 8:165. view on PubMed
Alanay Y, Krakow D, Rimoin DL, Lachman RS. 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. view on PubMed
Miller M, Krakow D, Pepkowitz S. Polyvalvular disease in a fetus with normal chromosomes. Congenit Heart Dis. 2007 May-Jun; 2(3):214-7. view on PubMed
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. 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. view on PubMed
Krejci P, Krakow D, Mekikian PB, Wilcox WR. 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. view on PubMed
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12; 103(50):19004-9. view on PubMed
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. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15; 140(16):1726-36. view on PubMed
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. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10. view on PubMed
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. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb; 44(2):89-98. view on PubMed
Byers PH, Krakow D, Nunes ME, Pepin M, American college of medical genetics. Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med. 2006 Jun; 8(6):383-8. view on PubMed
Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. Pediatr Radiol. 2006 Sep; 36(9):970-3. view on PubMed
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J, Mundlos S, Krakow D. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr; 78(4):708-12. view on PubMed
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. 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. view on PubMed
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug; 77(2):305-12. view on PubMed
Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005 Feb; 35(2):116-23. view on PubMed
Pogue R, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. A transcriptional profile of human fetal cartilage. Matrix Biol. 2004 Aug; 23(5):299-307. view on PubMed
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. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; 36(4):405-10. view on PubMed
Sebald E, Krueger R, King LM, Cohn DH, Krakow D. 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. view on PubMed
Krakow D, Sebald ET, Pogue R, Rimoin LP, King L, Cohn DH. 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. view on PubMed
Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar; 11(3):265-70. view on PubMed
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. 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. view on PubMed
