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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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- Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
(2000) N Engl J Med 342: 541-9 - Neonatal diabetes mellitus due to complete glucokinase deficiency.
Njølstad PR, Søvik O, Cuesta-Muñoz A, Bjørkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI
(2001) N Engl J Med 344: 1588-92 - Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.
Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA, Loyd JE
(2001) N Engl J Med 345: 319-24 - Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome).
Vidaillet HJ, Pressley JC, Henke E, Harrell FE, German LD
(1987) N Engl J Med 317: 65-9 - Telomerase mutations in families with idiopathic pulmonary fibrosis.
Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, Lansdorp PM, Greider CW, Loyd JE
(2007) N Engl J Med 356: 1317-26 - A novel channelopathy in pulmonary arterial hypertension.
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
(2013) N Engl J Med 369: 351-361 - The landscape of recombination in African Americans.
Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, Bernstein L, Blot WJ, Bock CH, Boerwinkle E, Cai Q, Caporaso N, Casey G, Cupples LA, Deming SL, Diver WR, Divers J, Fornage M, Gillanders EM, Glessner J, Harris CC, Hu JJ, Ingles SA, Isaacs W, John EM, Kao WH, Keating B, Kittles RA, Kolonel LN, Larkin E, Le Marchand L, McNeill LH, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, Nyante S, Papanicolaou GJ, Press MF, Psaty BM, Reiner AP, Rich SS, Rodriguez-Gil JL, Rotter JI, Rybicki BA, Schwartz AG, Signorello LB, Spitz M, Strom SS, Thun MJ, Tucker MA, Wang Z, Wiencke JK, Witte JS, Wrensch M, Wu X, Yamamura Y, Zanetti KA, Zheng W, Ziegler RG, Zhu X, Redline S, Hirschhorn JN, Henderson BE, Taylor HA, Price AL, Hakonarson H, Chanock SJ, Haiman CA, Wilson JG, Reich D, Myers SR
(2011) Nature 476: 170-5 - Finding the missing heritability of complex diseases.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM
(2009) Nature 461: 747-53 - Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI
(1996) Nature 384: 455-8 - Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI
(1996) Nature 384: 458-60 - A severe combined immunodeficiency mutation in the mouse.
Bosma GC, Custer RP, Bosma MJ
(1983) Nature 301: 527-30 - Mutation of HOXA13 in hand-foot-genital syndrome.
Mortlock DP, Innis JW
(1997) Nat Genet 15: 179-80 - Germline BAP1 mutations predispose to malignant mesothelioma.
Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M
(2011) Nat Genet 43: 1022-5 - MERLIN...and the geneticist's stone?
Nicolae DL, Cox NJ
(2002) Nat Genet 30: 3-4 - Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST
(1991) Cell 67: 1047-58 - Molecular basis of human hypertension: role of angiotensinogen.
Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, Hunt SC, Hopkins PN, Williams RR, Lalouel JM
(1992) Cell 71: 169-80 - Genetics. Insights into the pathogenesis of autism.
Sutcliffe JS
(2008) Science 321: 208-9 - Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history.
Murff HJ, Spigel DR, Syngal S
(2004) JAMA 292: 1480-9 - Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.
Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA, Hogan BM, Fogo A, Brock JW, Inagami T, Ichikawa I
(1999) Mol Cell 3: 1-10 - Calmodulin mutations associated with recurrent cardiac arrest in infants.
Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL
(2013) Circulation 127: 1009-17 - Analysis of the RELN gene as a genetic risk factor for autism.
Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER, DeLong GR, Moore JH, McCauley JL, Sutcliffe JS, Ashley-Koch AE, Cuccaro ML, Folstein SE, Gilbert JR, Pericak-Vance MA
(2005) Mol Psychiatry 10: 563-71 - Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH, Macdonald RL, Sutcliffe JS
(2011) Mol Psychiatry 16: 86-96 - Lack of association between autism and SLC25A12.
Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA
(2006) Am J Psychiatry 163: 929-31 - Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
(2011) Genome Res 21: 658-64 - Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, Mosley JD, Blair M, Short L, Stubblefield T, Roden DM, Darbar D, National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
(2014) Eur Heart J 35: 2477-83 - Vascular endothelial growth factor, its soluble receptor, and hepatocyte growth factor: clinical and genetic correlates and association with vascular function.
Lieb W, Safa R, Benjamin EJ, Xanthakis V, Yin X, Sullivan LM, Larson MG, Smith HM, Vita JA, Mitchell GF, Sawyer DB, Vasan RS
(2009) Eur Heart J 30: 1121-7 - Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.
Ritchie MD, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S, Roden DM, Darbar D
(2012) J Am Coll Cardiol 60: 1173-81 - Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ
(2004) J Am Coll Cardiol 44: 1903-10 - Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder.
Dickel DE, Veenstra-VanderWeele J, Cox NJ, Wu X, Fischer DJ, Van Etten-Lee M, Himle JA, Leventhal BL, Cook EH, Hanna GL
(2006) Arch Gen Psychiatry 63: 778-85 - Rapid mixed lymphocyte culture testing by analysis of the insulin receptor on alloactivated T lymphocytes: implications for human tissue typing.
Helderman JH, Strom TB, Garovoy MR
(1981) J Clin Invest 67: 509-13 - Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U
(2014) J Clin Invest 124: 3107-20 - Elevated cholesterol and bile acid synthesis in an adult patient with homozygous familial hypercholesterolemia. Reduction by a high glucose diet.
Stacpoole PW, Grundy SM, Swift LL, Greene HL, Slonim AE, Burr IM
(1981) J Clin Invest 68: 1166-71 - Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia.
Canizales-Quinteros S, Aguilar-Salinas CA, Reyes-Rodríguez E, Riba L, Rodríguez-Torres M, Ramírez-Jiménez S, Huertas-Vázquez A, Fragoso-Ontiveros V, Zentella-Dehesa A, Ventura-Gallegos JL, Vega-Hernández G, López-Estrada A, Aurón-Gómez M, Gómez-Pérez F, Rull J, Cox NJ, Bell GI, Tusié-Luna MT
(2003) Circ Res 92: 569-76 - TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR
(2013) Am J Hum Genet 93: 197-210 - Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.
Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP
(1997) Am J Hum Genet 61: 304-9 - Defective presynaptic choline transport underlies hereditary motor neuropathy.
Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH
(2012) Am J Hum Genet 91: 1103-7 - Contribution of SHANK3 mutations to autism spectrum disorder.
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW
(2007) Am J Hum Genet 81: 1289-97 - Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD
(2005) Am J Hum Genet 77: 265-79 - Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL
(2003) Am J Hum Genet 72: 419-28 - Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH
(2002) Am J Hum Genet 71: 947-51
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