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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Malfait F, et al. Among authors: petersen mb. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Orphanet J Rare Dis. 2013. PMID: 23692737 Free PMC article.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. Deardorff MA, et al. Among authors: petersen mb. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316. Nature. 2012. PMID: 22885700 Free PMC article.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: petersen mb. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Männikkö M, Mortier GR. Majava M, et al. Among authors: petersen mb. Am J Med Genet A. 2007 Feb 1;143A(3):258-64. doi: 10.1002/ajmg.a.31586. Am J Med Genet A. 2007. PMID: 17236192
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: petersen mb. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.
Hope is Not a Strategy: Key Lessons from COVID-19 for Future Health Crises.
Knudsen SV, Kristensen I, Kure-Biegel N, Bech M, Agerbak H, Hansen CP, Mohr-Jensen C, Valentin JB, Petersen MB, Mainz J. Knudsen SV, et al. Among authors: petersen mb. Risk Manag Healthc Policy. 2024 Dec 21;17:3247-3256. doi: 10.2147/RMHP.S495041. eCollection 2024. Risk Manag Healthc Policy. 2024. PMID: 39723434 Free PMC article.
A contest study to reduce attractiveness-based discrimination in social judgment.
Roy E, Jaeger B, Evans AM, Turetsky KM, O'Shea BA, Petersen MB, Singh B, Correll J, Zheng DY, Brown KW, Kirgios EL, Chang LW, Chang EH, Steele JR, Sebastien J, Sedgewick JR, Hackney A, Cook R, Yang X, Korkmaz A, Sim JJ, Khan N, Primbs MA, Bijlstra G, Faure R, Karremans JC, Santos LA, Voelkel JG, Marini M, Chen JM, Brown T, Yoon H, Morewedge CK, Scopelliti I, Hester N, Shen X, Ma M, Medvedev D, Ritchie EG, Lu C, Chang YP, Kumar A, Banerji R, Gretton JD, Schnabel L, Teachman BA, Kristal AS, Chua KW, Freeman JB, Fath S, Grigoryan L, Weißflog MI, Daryani Y, Pourhosein R, Johnson SK, Chan ET, Stevens SM, Anderson S, Beaty RE, Rubichi S, Cocco VM, Vezzali L, Lai CK, Axt JR. Roy E, et al. Among authors: petersen mb. J Pers Soc Psychol. 2024 Nov 14. doi: 10.1037/pspa0000414. Online ahead of print. J Pers Soc Psychol. 2024. PMID: 39541527 Free article.
Is something rotten in the state of Denmark? Cross-national evidence for widespread involvement but not systematic use of questionable research practices across all fields of research.
Schneider JW, Allum N, Andersen JP, Petersen MB, Madsen EB, Mejlgaard N, Zachariae R. Schneider JW, et al. Among authors: petersen mb. PLoS One. 2024 Aug 12;19(8):e0304342. doi: 10.1371/journal.pone.0304342. eCollection 2024. PLoS One. 2024. PMID: 39133711 Free PMC article.
361 results