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Creative Data Solutions (CDS) is a Vanderbilt Shared Resource and has extensive experience in providing effective and robust solutions to challenges pertaining to research data using modern informatics and bioinformatics approaches.
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- A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K
(2011) Nat Genet 43: 316-20 - A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.
Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A
(2013) Cell 155: 70-80 - Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
Cogan J, Austin E, Hedges L, Womack B, West J, Loyd J, Hamid R
(2012) Circulation 126: 1907-16 - An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ
(2020) Circulation 141: 429-439 - Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP
(2015) Am J Hum Genet 97: 512-20 - A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL
(2012) Proc Natl Acad Sci U S A 109: 7974-81 - Cell-permeable NM23 blocks the maintenance and progression of established pulmonary metastasis.
Lim J, Jang G, Kang S, Lee G, Nga do TT, Phuong do TL, Kim H, El-Rifai W, Ruley HE, Jo D
(2011) Cancer Res 71: 7216-25 - Wound healing in the alpha2beta1 integrin-deficient mouse: altered keratinocyte biology and dysregulated matrix metalloproteinase expression.
Grenache DG, Zhang Z, Wells LE, Santoro SA, Davidson JM, Zutter MM
(2007) J Invest Dermatol 127: 455-66 - Integrin alpha2beta1 is required for regulation of murine wound angiogenesis but is dispensable for reepithelialization.
Zweers MC, Davidson JM, Pozzi A, Hallinger R, Janz K, Quondamatteo F, Leutgeb B, Krieg T, Eckes B
(2007) J Invest Dermatol 127: 467-78 - Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
Han MR, Zheng W, Cai Q, Gao YT, Zheng Y, Bolla MK, Michailidou K, Dennis J, Wang Q, Dunning AM, Brennan P, Chen ST, Choi JY, Hartman M, Ito H, Lophatananon A, Matsuo K, Miao H, Muir K, Sangrajrang S, Shen CY, Teo SH, Tseng CC, Wu AH, Yip CH, Kang D, Xiang YB, Easton DF, Shu XO, Long J
(2017) Carcinogenesis 38: 511-518 - Discovery of a potent stapled helix peptide that binds to the 70N domain of replication protein A.
Frank AO, Vangamudi B, Feldkamp MD, Souza-Fagundes EM, Luzwick JW, Cortez D, Olejniczak ET, Waterson AG, Rossanese OW, Chazin WJ, Fesik SW
(2014) J Med Chem 57: 2455-61 - Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.
Phillips JA, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE
(2008) Genet Med 10: 359-65 - Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG
(2012) Hum Mutat 33: 165-79 - Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.
Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA, Newman JH, Loyd JE
(2009) Hum Mutat 30: 649-54 - Needle injuries among pediatric housestaff physicians in New York City.
Melzer SM, Vermund SH, Shelov SP
(1989) Pediatrics 84: 211-4 - The adaptor CRADD/RAIDD controls activation of endothelial cells by proinflammatory stimuli.
Qiao H, Liu Y, Veach RA, Wylezinski L, Hawiger J
(2014) J Biol Chem 289: 21973-83 - Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance.
Flynn C, Zheng S, Yan L, Hedges L, Womack B, Fessel J, Cogan J, Austin E, Loyd J, West J, Zhao Z, Hamid R
(2012) Am J Respir Cell Mol Biol 47: 20-7 - Genetic Analysis Workshop II: results of segregation analyses using POINTER and linkage analyses using LIPED.
Cox NJ
(1984) Genet Epidemiol 1: 167-70 - Optimized selection of unrelated subjects for whole-genome sequencing studies of rare high-penetrance alleles.
Edwards TL, Li C
(2012) Genet Epidemiol 36: 472-9 - Temperature affects the tripartite interactions between bacteriophage WO, Wolbachia, and cytoplasmic incompatibility.
Bordenstein SR, Bordenstein SR
(2011) PLoS One 6: e29106 - Lethality in a murine model of pulmonary anthrax is reduced by combining nuclear transport modifier with antimicrobial therapy.
Veach RA, Zienkiewicz J, Collins RD, Hawiger J
(2012) PLoS One 7: e30527 - LIM domain only-2 (LMO2) induces T-cell leukemia by two distinct pathways.
Smith S, Tripathi R, Goodings C, Cleveland S, Mathias E, Hardaway JA, Elliott N, Yi Y, Chen X, Downing J, Mullighan C, Swing DA, Tessarollo L, Li L, Love P, Jenkins NA, Copeland NG, Thompson MA, Du Y, Davé UP
(2014) PLoS One 9: e85883 - The "genomic storm" induced by bacterial endotoxin is calmed by a nuclear transport modifier that attenuates localized and systemic inflammation.
DiGiandomenico A, Veach RA, Zienkiewicz J, Moore DJ, Wylezinski LS, Hutchens MA, Hawiger J
(2014) PLoS One 9: e110183 - Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.
Rosa-Rosa JM, Gracia-Aznárez FJ, Hodges E, Pita G, Rooks M, Xuan Z, Bhattacharjee A, Brizuela L, Silva JM, Hannon GJ, Benitez J
(2010) PLoS One 5: e9976 - Angiostatic effect of penetrating ocular injury: role of pigment epithelium-derived factor.
Penn JS, McCollum GW, Barnett JM, Werdich XQ, Koepke KA, Rajaratnam VS
(2006) Invest Ophthalmol Vis Sci 47: 405-14 - Zeta inhibitory peptide (ZIP) erases long-term memories in a cockroach.
Deng Z, Lubinski AJ, Page TL
(2015) Neurobiol Learn Mem 118: 89-95 - Heritable forms of pulmonary arterial hypertension.
Austin ED, Loyd JE
(2013) Semin Respir Crit Care Med 34: 568-80 - Multicenter Validation of the Survival After Acute Civilian Penetrating Brain Injuries (SPIN) Score.
Mikati AG, Flahive J, Khan MW, Vedantam A, Gopinath S, Nordness MF, Robertson C, Patel MB, Sheth KN, Muehlschlegel S
(2019) Neurosurgery 85: E872-E879 - Penetrance and expressivity of genes involved in the development of epilepsy in the genetically epilepsy-prone rat (GEPR).
Kurtz BS, Lehman J, Garlick P, Amberg J, Mishra PK, Dailey JW, Weber R, Jobe PC
(2001) J Neurogenet 15: 233-44 - Genetics and mediators in pulmonary arterial hypertension.
Austin ED, Loyd JE
(2007) Clin Chest Med 28: 43-57, vii-viii - Removal of nail penetrating the basilar artery.
Englot DJ, Laurans MS, Abbed K, Bulsara KR
(2010) Neurosurg Rev 33: 501-4 - Elucidating the effects of primary blast on the eye.
Rex TS, Reilly MA, Sponsel WE
(2015) Clin Exp Ophthalmol 43: 197-9 - Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling.
Nie X, Brown CB, Wang Q, Jiao K
(2011) Cells Tissues Organs 193: 393-403 - Management of penetrating neck injury in the emergency department: a structured literature review.
Brywczynski JJ, Barrett TW, Lyon JA, Cotton BA
(2008) Emerg Med J 25: 711-5 - Oberlin transfer and partial radial to axillary nerve neurotization to repair an explosive traumatic injury to the brachial plexus in a child: case report.
Miller JH, Garber ST, McCormick DE, Eskandari R, Walker ML, Rizk E, Tubbs RS, Wellons JC
(2013) Childs Nerv Syst 29: 2105-9 - Periorbital infections after Dermabond closure of traumatic lacerations in three children.
Yeilding RH, O'Day DM, Li C, Alexander PT, Mawn LA
(2012) J AAPOS 16: 168-72
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