Daniel H Cohn

Title(s)Professor, Molecular, Cell and Developmental Biology
SchoolCollege of Letters and Science
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    Other Positions
    Title(s)Professor, Orthopaedic Surgery


    Collapse Research 
    Collapse Research Activities and Funding
    Structural Birth Defects Meetings 12th-14th
    NIH R13HD103463Aug 1, 2020 - Jul 31, 2025
    Role: Principal Investigator
    Exome sequencing in the skeletal dysplasias
    NIH R01AR062651Mar 1, 2013 - Apr 30, 2019
    Role: Principal Investigator
    Short-rib polydactyly and the skeletal ciliopathies
    NIH R01DE019567Dec 1, 2008 - Jul 31, 2021
    Role: Principal Investigator
    SKELETAL DYSPLASIAS OF PAKISTAN
    NIH R03TW001051Mar 1, 1999 - Feb 28, 2003
    Role: Principal Investigator
    BIOCHEMICAL AND MOLECULAR BASIS OF THE COMP DISORDERS
    NIH R01AR043139Jan 15, 1995 - May 31, 2006
    Role: Principal Investigator
    GENETIC AND MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA
    NIH R01AR039837Aug 1, 1988 - Jul 31, 1998
    Role: Principal Investigator
    GENETIC AND MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA
    NIH R29AR039837Aug 1, 1988 - Jul 31, 1993
    Role: Principal Investigator
    THE MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA
    NIH F32AR007713Apr 1, 1986
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth. JCI Insight. 2023 Nov 08; 8(21). Zieba J, Nevarez L, Wachtell D, Martin JH, Kot A, Wong S, Cohn DH, Krakow D. PMID: 37796615; PMCID: PMC10721276.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    2. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May; 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.
      View in: PubMed   Mentions: 25     Fields:    
    3. 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.
      View in: PubMed   Mentions: 2  
    4. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:AnimalsCells
    5. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. 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.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    7. 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.
      View in: PubMed   Mentions: 212     Fields:    Translation:Humans
    8. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    9. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    10. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    11. Prevalence of Trachoma in Senegal: Results of Baseline Surveys in 17 Districts. Ophthalmic Epidemiol. 2018 12; 25(sup1):41-52. Sarr B, Sissoko M, Fall M, Nizigama L, Cohn D, Willis R, Fuller B, O'Neil M, Solomon AW, Global Trachoma Mapping Project. PMID: 30806538; PMCID: PMC6444198.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    12. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. Am J Med Genet A. 2018 12; 176(12):2887-2891. Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Hudgins L. PMID: 30450842; PMCID: PMC7608529.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    13. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    14. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    15. 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.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    16. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    17. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    18. 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.
      View in: PubMed   Mentions: 16  
    19. 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.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    20. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 03; 127(4):1475-1484. Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH. PMID: 28263186; PMCID: PMC5373861.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    21. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    22. 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.
      View in: PubMed   Mentions:    Fields:    
    23. Evaluation of Lymphatic Filariasis and Onchocerciasis in Three Senegalese Districts Treated for Onchocerciasis with Ivermectin. PLoS Negl Trop Dis. 2016 12; 10(12):e0005198. Wilson NO, Badara Ly A, Cama VA, Cantey PT, Cohn D, Diawara L, Direny A, Fall M, Feeser KR, Fox LM, Kabore A, Seck AF, Sy N, Ndiaye D, Dubray C. PMID: 27926918; PMCID: PMC5142766.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    24. 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.
      View in: PubMed   Mentions: 25     Fields:    
    25. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    26. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    27. 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.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    28. 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.
      View in: PubMed   Mentions: 2     Fields:    
    29. 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.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    30. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    31. 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.
      View in: PubMed   Mentions: 74     Fields:    Translation:HumansAnimalsCells
    32. 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.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    33. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 06; 53(6):427-30. Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. PMID: 26671912; PMCID: PMC4898782.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    34. 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.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    35. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    36. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    37. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res. 2014 Aug; 29(8):1815-1822. Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. PMID: 24644033; PMCID: PMC4108531.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    38. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    39. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    40. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations. FASEB J. 2014 Jun; 28(6):2525-37. Leddy HA, McNulty AL, Lee SH, Rothfusz NE, Gloss B, Kirby ML, Hutson MR, Cohn DH, Guilak F, Liedtke W. PMID: 24577120; PMCID: PMC4021446.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    41. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014; 1:213-219. Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. PMID: 25019053; PMCID: PMC4088274.
      View in: PubMed   Mentions: 8  
    42. 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.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    43. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. PMID: 23408678; PMCID: PMC3688672.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCTClinical Trials
    44. 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.
      View in: PubMed   Mentions: 165     Fields:    Translation:HumansAnimals
    45. 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.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    46. David L. Rimoin. Am J Hum Genet. 2012 Sep 07; 91(3):403-7. Cohn DH, Shapiro LJ, Kaback MM. PMID: 23240132; PMCID: PMC3511997.
      View in: PubMed   Mentions:    Fields:    
    47. 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.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    48. Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly. Biochemistry. 2012 Mar 27; 51(12):2417-24. Hudson DM, Kim LS, Weis M, Cohn DH, Eyre DR. PMID: 22380708; PMCID: PMC3314591.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    49. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    50. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet. 2011 Dec 09; 89(6):767-72. Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. PMID: 22152678; PMCID: PMC3234368.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    51. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011 Dec; 26(12):2798-803. Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. PMID: 21826736; PMCID: PMC3214246.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansCells
    52. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    53. 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.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    54. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    55. 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.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    56. 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.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    57. 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.
      View in: PubMed   Mentions: 133     Fields:    Translation:Humans
    58. 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.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansAnimalsCells
    59. Disease gene characterization through large-scale co-expression analysis. PLoS One. 2009 Dec 31; 4(12):e8491. Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF. PMID: 20046828; PMCID: PMC2797297.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    60. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics. 2009 Dec 31; 10:646. Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. PMID: 20043857; PMCID: PMC2808330.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    61. Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. Mol Cell Biochem. 2010 May; 338(1-2):215-24. Rock MJ, Holden P, Horton WA, Cohn DH. PMID: 20033473; PMCID: PMC3150962.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    62. 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.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    63. 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.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    64. 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.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansCells
    65. 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.
      View in: PubMed   Mentions: 101     Fields:    Translation:Humans
    66. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug; 40(8):999-1003. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. PMID: 18587396; PMCID: PMC3525077.
      View in: PubMed   Mentions: 105     Fields:    Translation:HumansCells
    67. 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.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    68. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007 Nov; 13(11):1363-7. Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S. PMID: 17952091.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansAnimalsCells
    69. 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.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    70. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    71. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet. 2007 Apr; 44(4):e73. Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S. PMID: 17400792; PMCID: PMC2598034.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    72. 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.
      View in: PubMed   Mentions: 289     Fields:    Translation:HumansCells
    73. [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]. Med Clin (Barc). 2007 Feb 03; 128(4):137-40. Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E. PMID: 17288936.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    74. 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.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    75. 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.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    76. Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. Am J Med Genet A. 2005 Sep 15; 138(1):75-8. Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. PMID: 16097008.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    77. 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.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    78. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    79. 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.
      View in: PubMed   Mentions: 100     Fields:    Translation:Cells
    80. Genetic determinants of osteoporosis susceptibility in a female Ashkenazi Jewish population. Genet Med. 2004 Jan-Feb; 6(1):33-7. Li X, Chen S, Kantorovich V, Cheng LS, Cohn DH, Rotter JI, Yang H, Adams JS. PMID: 14726807.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    81. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    82. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    83. 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.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    84. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    85. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet. 2002 Oct; 71(4):947-51. Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. PMID: 12161821; PMCID: PMC378548.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    86. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002 Jul 22; 111(1):31-7. Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC. PMID: 12124730.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
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