-
1
-
-
0033574273
-
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
-
Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA. 1999. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97:175-187.
-
(1999)
Cell
, vol.97
, pp. 175-187
-
-
Abbott, G.W.1
Sesti, F.2
Splawski, I.3
Buck, M.E.4
Lehmann, M.H.5
Timothy, K.W.6
Keating, M.T.7
Goldstein, S.A.8
-
2
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
3
-
-
0035205506
-
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-
-
White syndrome and placenta accreta.
-
Aggarwal P, Gill-Randall R, Wheatley T, Buchalter MB, Metcalfe J, Alcolado JC. 2001. Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. Hum Hered 51:114-116.
-
(2001)
Hum Hered
, vol.51
, pp. 114-116
-
-
Aggarwal, P.1
Gill-Randall, R.2
Wheatley, T.3
Buchalter, M.B.4
Metcalfe, J.5
Alcolado, J.C.6
-
4
-
-
84860788246
-
Exome analysis of a family with pleiotropic congenital heart disease
-
Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, Otterud BE, Nielsen DC, Stevens J, Levy S, Leppert MF, Bowles NE. 2012. Exome analysis of a family with pleiotropic congenital heart disease. Circ Cardiovasc Genet 5:175-182.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 175-182
-
-
Arrington, C.B.1
Bleyl, S.B.2
Matsunami, N.3
Bonnell, G.D.4
Otterud, B.E.5
Nielsen, D.C.6
Stevens, J.7
Levy, S.8
Leppert, M.F.9
Bowles, N.E.10
-
5
-
-
51749096139
-
Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation
-
Arrington CB, Sower CT, Chuckwuk N, Stevens J, Leppert MF, Yetman AT, Bowles NE. 2008. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. Am J Cardiol 102:629-631.
-
(2008)
Am J Cardiol
, vol.102
, pp. 629-631
-
-
Arrington, C.B.1
Sower, C.T.2
Chuckwuk, N.3
Stevens, J.4
Leppert, M.F.5
Yetman, A.T.6
Bowles, N.E.7
-
6
-
-
0034069495
-
Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, Issel-Tarver L, Kasarskis A, Lewis S, Matese JC, Richardson JE, Ringwald M, Rubin GM, Sherlock G. 2000. Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25:25-29.
-
(2000)
Nat Genet
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
Issel-Tarver, L.13
Kasarskis, A.14
Lewis, S.15
Matese, J.C.16
Richardson, J.E.17
Ringwald, M.18
Rubin, G.M.19
Sherlock, G.20
more..
-
7
-
-
79960572198
-
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
-
Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. 2011. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol 12:R68.
-
(2011)
Genome Biol
, vol.12
, pp. R68
-
-
Bainbridge, M.N.1
Wang, M.2
Wu, Y.3
Newsham, I.4
Muzny, D.M.5
Jefferies, J.L.6
Albert, T.J.7
Burgess, D.L.8
Gibbs, R.A.9
-
8
-
-
70349202176
-
MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice
-
Callis TE, Pandya K, Seok HY, Tang RH, Tatsuguchi M, Huang ZP, Chen JF, Deng Z, Gunn B, Shumate J, Willis MS, Selzman CH, Wang DZ. 2009. MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice. J Clin Invest 119:2772-2786.
-
(2009)
J Clin Invest
, vol.119
, pp. 2772-2786
-
-
Callis, T.E.1
Pandya, K.2
Seok, H.Y.3
Tang, R.H.4
Tatsuguchi, M.5
Huang, Z.P.6
Chen, J.F.7
Deng, Z.8
Gunn, B.9
Shumate, J.10
Willis, M.S.11
Selzman, C.H.12
Wang, D.Z.13
-
9
-
-
21844463045
-
Alpha-myosin heavy chain: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
-
Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. 2005. Alpha-myosin heavy chain: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 112:54-59.
-
(2005)
Circulation
, vol.112
, pp. 54-59
-
-
Carniel, E.1
Taylor, M.R.2
Sinagra, G.3
Di Lenarda, A.4
Ku, L.5
Fain, P.R.6
Boucek, M.M.7
Cavanaugh, J.8
Miocic, S.9
Slavov, D.10
Graw, S.L.11
Feiger, J.12
Zhu, X.Z.13
Dao, D.14
Ferguson, D.A.15
Bristow, M.R.16
Mestroni, L.17
-
10
-
-
20144387341
-
Mutation in myosin heavy chain 6 causes atrial septal defect
-
Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. 2005. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 37:423-428.
-
(2005)
Nat Genet
, vol.37
, pp. 423-428
-
-
Ching, Y.H.1
Ghosh, T.K.2
Cross, S.J.3
Packham, E.A.4
Honeyman, L.5
Loughna, S.6
Robinson, T.E.7
Dearlove, A.M.8
Ribas, G.9
Bonser, A.J.10
Thomas, N.R.11
Scotter, A.J.12
Caves, L.S.13
Tyrrell, G.P.14
Newbury-Ecob, R.A.15
Munnich, A.16
Bonnet, D.17
Brook, J.D.18
-
11
-
-
84878726099
-
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders
-
den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, Nolte IM, Segre AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P, Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z, Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M, Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B, Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L, Wheeler W, Zhang W, Draisma HH, Feitosa MF, Kerr KF, Lind PA, Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L, Absher D, Albert CM, Alonso A, Arking DE, de Bakker PI, Balkau B, Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock SJ, Chines PS, Chung M, Darbar D, Dina C, Dorr M, Elliott P, Felix SB, Fischer K, Fuchsberger C, de Geus EJ, Goyette P, Gudnason V, Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA, Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK, Johansson A, Junttila J, Kaab S, Kanon B, Ketkar S, Khaw KT, Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P, Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL, Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I, McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC, Muller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ, Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP, Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA, Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N, Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG, Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen G, Wilson JF, Witteman JC, Wong A, Wong Q, Jamshidi Y, Zitting P, Boer JM, Boomsma DI, Borecki IB, van Duijn CM, Ekelund U, Forouhi NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA, Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T, Rotter JI, van der Schouw YT, Verschuren WM, Walker M, Albanes D, Arnar DO, Assimes TL, Bandinelli S, Boehnke M, de Boer RA, Bouchard C, Caulfield WL, Chambers JC, Curhan G, Cusi D, Eriksson J, Ferrucci L, van Gilst WH, Glorioso N, de Graaf J, Groop L, Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C, Isomaa B, Jarvelin MR, Jula A, Kahonen M, Kiemeney LA, van der Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimaki T, Lokki ML, Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L, Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP, Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G, Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann J, Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor PT, Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD, Stefansson K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H, Samani NJ, Loos RJ. 2013. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet 45:621-631.
-
(2013)
Nat Genet
, vol.45
, pp. 621-631
-
-
den Hoed, M.1
Eijgelsheim, M.2
Esko, T.3
Brundel, B.J.4
Peal, D.S.5
Evans, D.M.6
Nolte, I.M.7
Segre, A.V.8
Holm, H.9
Handsaker, R.E.10
Westra, H.J.11
Johnson, T.12
Isaacs, A.13
Yang, J.14
Lundby, A.15
Zhao, J.H.16
Kim, Y.J.17
Go, M.J.18
Almgren, P.19
Bochud, M.20
Boucher, G.21
Cornelis, M.C.22
Gudbjartsson, D.23
Hadley, D.24
van der Harst, P.25
Hayward, C.26
den Heijer, M.27
Igl, W.28
Jackson, A.U.29
Kutalik, Z.30
Luan, J.31
Kemp, J.P.32
Kristiansson, K.33
Ladenvall, C.34
Lorentzon, M.35
Montasser, M.E.36
Njajou, O.T.37
O'Reilly, P.F.38
Padmanabhan, S.39
St Pourcain, B.40
Rankinen, T.41
Salo, P.42
Tanaka, T.43
Timpson, N.J.44
Vitart, V.45
Waite, L.46
Wheeler, W.47
Zhang, W.48
Draisma, H.H.49
Feitosa, M.F.50
Kerr, K.F.51
Lind, P.A.52
Mihailov, E.53
Onland-Moret, N.C.54
Song, C.55
Weedon, M.N.56
Xie, W.57
Yengo, L.58
Absher, D.59
Albert, C.M.60
Alonso, A.61
Arking, D.E.62
de Bakker, P.I.63
Balkau, B.64
Barlassina, C.65
Benaglio, P.66
Bis, J.C.67
Bouatia-Naji, N.68
Brage, S.69
Chanock, S.J.70
Chines, P.S.71
Chung, M.72
Darbar, D.73
Dina, C.74
Dorr, M.75
Elliott, P.76
Felix, S.B.77
Fischer, K.78
Fuchsberger, C.79
de Geus, E.J.80
Goyette, P.81
Gudnason, V.82
Harris, T.B.83
Hartikainen, A.L.84
Havulinna, A.S.85
Heckbert, S.R.86
Hicks, A.A.87
Hofman, A.88
Holewijn, S.89
Hoogstra-Berends, F.90
Hottenga, J.J.91
Jensen, M.K.92
Johansson, A.93
Junttila, J.94
Kaab, S.95
Kanon, B.96
Ketkar, S.97
Khaw, K.T.98
Knowles, J.W.99
more..
-
12
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498.
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
del Angel, G.8
Rivas, M.A.9
Hanna, M.10
McKenna, A.11
Fennell, T.J.12
Kernytsky, A.M.13
Sivachenko, A.Y.14
Cibulskis, K.15
Gabriel, S.B.16
Altshuler, D.17
Daly, M.J.18
-
13
-
-
84878710779
-
MiRNA-208a and miRNA-208b are triggered in thyroid hormone-induced cardiac hypertrophy-role of type 1 Angiotensin II receptor (AT1R) on miRNA-208a/alpha-MHC modulation
-
Diniz GP, Takano AP, Barreto-Chaves ML. 2013. MiRNA-208a and miRNA-208b are triggered in thyroid hormone-induced cardiac hypertrophy-role of type 1 Angiotensin II receptor (AT1R) on miRNA-208a/alpha-MHC modulation. Mol Cell Endocrinol 374:117-124.
-
(2013)
Mol Cell Endocrinol
, vol.374
, pp. 117-124
-
-
Diniz, G.P.1
Takano, A.P.2
Barreto-Chaves, M.L.3
-
14
-
-
77955868835
-
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
-
Flanagan SE, Patch AM, Ellard S. 2010. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers 14:533-537.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 533-537
-
-
Flanagan, S.E.1
Patch, A.M.2
Ellard, S.3
-
15
-
-
0035859215
-
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
-
Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. 2001a. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 344:1823-1831.
-
(2001)
N Engl J Med
, vol.344
, pp. 1823-1831
-
-
Gollob, M.H.1
Green, M.S.2
Tang, A.S.3
Gollob, T.4
Karibe, A.5
Ali Hassan, A.S.6
Ahmad, F.7
Lozado, R.8
Shah, G.9
Fananapazir, L.10
Bachinski, L.L.11
Roberts, R.12
-
16
-
-
0035910109
-
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy
-
Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R. 2001b. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation 104:3030-3033.
-
(2001)
Circulation
, vol.104
, pp. 3030-3033
-
-
Gollob, M.H.1
Seger, J.J.2
Gollob, T.N.3
Tapscott, T.4
Gonzales, O.5
Bachinski, L.6
Roberts, R.7
-
17
-
-
77957738714
-
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects
-
Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J. 2010. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet 19:4007-4016.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4007-4016
-
-
Granados-Riveron, J.T.1
Ghosh, T.K.2
Pope, M.3
Bu'Lock, F.4
Thornborough, C.5
Eason, J.6
Kirk, E.P.7
Fatkin, D.8
Feneley, M.P.9
Harvey, R.P.10
Armour, J.A.11
David Brook, J.12
-
18
-
-
0022294248
-
Prevalence and course of Wolf-Parkinson-White syndrome in a population of 138,048 subjects
-
Guize L, Soria R, Chaouat JC, Chretien JM, Houe D, Le Heuzey JY. 1985. Prevalence and course of Wolf-Parkinson-White syndrome in a population of 138, 048 subjects. Ann Med Interne (Paris) 136:474-478.
-
(1985)
Ann Med Interne (Paris)
, vol.136
, pp. 474-478
-
-
Guize, L.1
Soria, R.2
Chaouat, J.C.3
Chretien, J.M.4
Houe, D.5
Le Heuzey, J.Y.6
-
19
-
-
0002566450
-
Hereditary occurrence of the pre-excitation (Wolff-Parkinson-White) syndrome with re-entry mechanism and concealed conduction
-
Harnischfeger WW. 1959. Hereditary occurrence of the pre-excitation (Wolff-Parkinson-White) syndrome with re-entry mechanism and concealed conduction. Circulation 19:28-40.
-
(1959)
Circulation
, vol.19
, pp. 28-40
-
-
Harnischfeger, W.W.1
-
20
-
-
0033563413
-
Two strategies for sequence comparison: Profile-preprocessed and secondary structure-induced multiple alignment
-
Heringa J. 1999. Two strategies for sequence comparison: Profile-preprocessed and secondary structure-induced multiple alignment. Comput Chem 23:341-364.
-
(1999)
Comput Chem
, vol.23
, pp. 341-364
-
-
Heringa, J.1
-
21
-
-
75749122164
-
Several common variants modulate heart rate, PR interval and QRS duration
-
Holm H, Gudbjartsson DF, Arnar DO, Thorleifsson G, Thorgeirsson G, Stefansdottir H, Gudjonsson SA, Jonasdottir A, Mathiesen EB, Njolstad I, Nyrnes A, Wilsgaard T, Hald EM, Hveem K, Stoltenberg C, Lochen ML, Kong A, Thorsteinsdottir U, Stefansson K. 2010. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet 42:117-122.
-
(2010)
Nat Genet
, vol.42
, pp. 117-122
-
-
Holm, H.1
Gudbjartsson, D.F.2
Arnar, D.O.3
Thorleifsson, G.4
Thorgeirsson, G.5
Stefansdottir, H.6
Gudjonsson, S.A.7
Jonasdottir, A.8
Mathiesen, E.B.9
Njolstad, I.10
Nyrnes, A.11
Wilsgaard, T.12
Hald, E.M.13
Hveem, K.14
Stoltenberg, C.15
Lochen, M.L.16
Kong, A.17
Thorsteinsdottir, U.18
Stefansson, K.19
-
22
-
-
79953212557
-
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. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 43:316-320.
-
(2011)
Nat Genet
, vol.43
, pp. 316-320
-
-
Holm, H.1
Gudbjartsson, D.F.2
Sulem, P.3
Masson, G.4
Helgadottir, H.T.5
Zanon, C.6
Magnusson, O.T.7
Helgason, A.8
Saemundsdottir, J.9
Gylfason, A.10
Stefansdottir, H.11
Gretarsdottir, S.12
Matthiasson, S.E.13
Thorgeirsson, G.M.14
Jonasdottir, A.15
Sigurdsson, A.16
Stefansson, H.17
Werge, T.18
Rafnar, T.19
Kiemeney, L.A.20
Parvez, B.21
Muhammad, R.22
Roden, D.M.23
Darbar, D.24
Thorleifsson, G.25
Walters, G.B.26
Kong, A.27
Thorsteinsdottir, U.28
Arnar, D.O.29
Stefansson, K.30
more..
-
23
-
-
84881609951
-
VAAST 2.0: Improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix
-
Hu H, Huff CD, Moore B, Flygare S, Reese MG, Yandell M. 2013. VAAST 2.0: Improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol 37:622-634.
-
(2013)
Genet Epidemiol
, vol.37
, pp. 622-634
-
-
Hu, H.1
Huff, C.D.2
Moore, B.3
Flygare, S.4
Reese, M.G.5
Yandell, M.6
-
24
-
-
84904025285
-
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
-
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya W, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. 2014. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotech 32:663-669.
-
(2014)
Nat Biotech
, vol.32
, pp. 663-669
-
-
Hu, H.1
Roach, J.C.2
Coon, H.3
Guthery, S.L.4
Voelkerding, K.V.5
Margraf, R.L.6
Durtschi, J.D.7
Tavtigian, S.V.8
Shankaracharya, W.9
Wu, W.10
Scheet, P.11
Wang, S.12
Xing, J.13
Glusman, G.14
Hubley, R.15
Li, H.16
Garg, V.17
Moore, B.18
Hood, L.19
Galas, D.J.20
Srivastava, D.21
Reese, M.G.22
Jorde, L.B.23
Yandell, M.24
Huff, C.D.25
more..
-
25
-
-
84905714943
-
Using VAAST to identify disease-associated variants in next-generation sequencing data
-
Kennedy B, Kronenberg Z, Hu H, Moore B, Flygare S, Reese MG, Jorde LB, Yandell M, Huff C. 2014. Using VAAST to identify disease-associated variants in next-generation sequencing data. Curr Protoc Hum Genet 81:6 14 11-16 14 25.
-
(2014)
Curr Protoc Hum Genet
, vol.81
, pp. 6 14 11-16 14 25
-
-
Kennedy, B.1
Kronenberg, Z.2
Hu, H.3
Moore, B.4
Flygare, S.5
Reese, M.G.6
Jorde, L.B.7
Yandell, M.8
Huff, C.9
-
26
-
-
0000267093
-
Researches on the structure and function of the mammalian heart
-
Kent AF. 1893. Researches on the structure and function of the mammalian heart. J Physiol 14:i2-i254.
-
(1893)
J Physiol
, vol.14
, pp. i2-i254
-
-
Kent, A.F.1
-
27
-
-
84891749517
-
The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data
-
Kohler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jahn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. 2014. The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Res 42:D966-D974.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D966-D974
-
-
Kohler, S.1
Doelken, S.C.2
Mungall, C.J.3
Bauer, S.4
Firth, H.V.5
Bailleul-Forestier, I.6
Black, G.C.7
Brown, D.L.8
Brudno, M.9
Campbell, J.10
FitzPatrick, D.R.11
Eppig, J.T.12
Jackson, A.P.13
Freson, K.14
Girdea, M.15
Helbig, I.16
Hurst, J.A.17
Jahn, J.18
Jackson, L.G.19
Kelly, A.M.20
Ledbetter, D.H.21
Mansour, S.22
Martin, C.L.23
Moss, C.24
Mumford, A.25
Ouwehand, W.H.26
Park, S.M.27
Riggs, E.R.28
Scott, R.H.29
Sisodiya, S.30
Van Vooren, S.31
Wapner, R.J.32
Wilkie, A.O.33
Wright, C.F.34
Vulto-van Silfhout, A.T.35
de Leeuw, N.36
de Vries, B.B.37
Washingthon, N.L.38
Smith, C.L.39
Westerfield, M.40
Schofield, P.41
Ruef, B.J.42
Gkoutos, G.V.43
Haendel, M.44
Smedley, D.45
Lewis, S.E.46
Robinson, P.N.47
more..
-
28
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
29
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
30
-
-
68549104404
-
The sequence alignment/map format and samtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. 2009. The sequence alignment/map format and samtools. Bioinformatics 25:2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
31
-
-
0014167384
-
Familial Wolff-Parkinson-White syndrome with cardiomyopathy
-
Massumi RA. 1967. Familial Wolff-Parkinson-White syndrome with cardiomyopathy. Am J Med 43:951-955.
-
(1967)
Am J Med
, vol.43
, pp. 951-955
-
-
Massumi, R.A.1
-
32
-
-
84880924317
-
Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth
-
McElroy JJ, Gutman CE, Shaffer CM, Busch TD, Puttonen H, Teramo K, Murray JC, Hallman M, Muglia LJ. 2013. Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth. Hum Genet 132:935-942.
-
(2013)
Hum Genet
, vol.132
, pp. 935-942
-
-
McElroy, J.J.1
Gutman, C.E.2
Shaffer, C.M.3
Busch, T.D.4
Puttonen, H.5
Teramo, K.6
Murray, J.C.7
Hallman, M.8
Muglia, L.J.9
-
33
-
-
33747140711
-
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
-
Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C. 2006. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet 70:214-227.
-
(2006)
Clin Genet
, vol.70
, pp. 214-227
-
-
Millat, G.1
Chevalier, P.2
Restier-Miron, L.3
Da Costa, A.4
Bouvagnet, P.5
Kugener, B.6
Fayol, L.7
Gonzalez Armengod, C.8
Oddou, B.9
Chanavat, V.10
Froidefond, E.11
Perraudin, R.12
Rousson, R.13
Rodriguez-Lafrasse, C.14
-
34
-
-
0037192339
-
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
-
Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. 2002. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 105:446-451.
-
(2002)
Circulation
, vol.105
, pp. 446-451
-
-
Niimura, H.1
Patton, K.K.2
McKenna, W.J.3
Soults, J.4
Maron, B.J.5
Seidman, J.G.6
Seidman, C.E.7
-
35
-
-
80051550297
-
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
-
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. 2011. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 89:28-43.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 28-43
-
-
Rope, A.F.1
Wang, K.2
Evjenth, R.3
Xing, J.4
Johnston, J.J.5
Swensen, J.J.6
Johnson, W.E.7
Moore, B.8
Huff, C.D.9
Bird, L.M.10
Carey, J.C.11
Opitz, J.M.12
Stevens, C.A.13
Jiang, T.14
Schank, C.15
Fain, H.D.16
Robison, R.17
Dalley, B.18
Chin, S.19
South, S.T.20
Pysher, T.J.21
Jorde, L.B.22
Hakonarson, H.23
Lillehaug, J.R.24
Biesecker, L.G.25
Yandell, M.26
Arnesen, T.27
Lyon, G.J.28
more..
-
36
-
-
0014544050
-
Familial occurrence of Wolff-Parkinson-White syndrome
-
Schneider RG. 1969. Familial occurrence of Wolff-Parkinson-White syndrome. Am Heart J 78:34-37.
-
(1969)
Am Heart J
, vol.78
, pp. 34-37
-
-
Schneider, R.G.1
-
37
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575-576.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
38
-
-
0035173378
-
dbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: The NCBI database of genetic variation. Nucl Acids Res 29:308-311.
-
(2001)
Nucl Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
39
-
-
84877957142
-
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ
-
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. 2013. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971-1979.
-
(2013)
N Engl J Med
, vol.368
, pp. 1971-1979
-
-
Shirley, M.D.1
Tang, H.2
Gallione, C.J.3
Baugher, J.D.4
Frelin, L.P.5
Cohen, B.6
North, P.E.7
Marchuk, D.A.8
Comi, A.M.9
Pevsner, J.10
-
40
-
-
84898743768
-
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families
-
Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M. 2014. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet 94:599-610.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 599-610
-
-
Singleton, M.V.1
Guthery, S.L.2
Voelkerding, K.V.3
Chen, K.4
Kennedy, B.5
Margraf, R.L.6
Durtschi, J.7
Eilbeck, K.8
Reese, M.G.9
Jorde, L.B.10
Huff, C.D.11
Yandell, M.12
-
41
-
-
0022516684
-
Complete nucleotide and encoded amino acid sequence of a mammalian myosin heavy chain gene. Evidence against intron-dependent evolution of the rod
-
Strehler EE, Strehler-Page MA, Perriard JC, Periasamy M, Nadal-Ginard B. 1986. Complete nucleotide and encoded amino acid sequence of a mammalian myosin heavy chain gene. Evidence against intron-dependent evolution of the rod. J Mol Biol 190:291-317.
-
(1986)
J Mol Biol
, vol.190
, pp. 291-317
-
-
Strehler, E.E.1
Strehler-Page, M.A.2
Perriard, J.C.3
Periasamy, M.4
Nadal-Ginard, B.5
-
42
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. 2006. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43:295-305.
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
Samollow, P.B.6
de Silva, D.7
Zharkikh, A.8
Thomas, A.9
-
43
-
-
33749817427
-
Bundle-branch block with short P-R interval in healthy young people prone to paroxysmal tachycardia. 1930
-
Wolff L, Parkinson J, White PD. 2006. Bundle-branch block with short P-R interval in healthy young people prone to paroxysmal tachycardia. 1930. Ann Noninvasive Electrocardiol 11:340-353.
-
(2006)
Ann Noninvasive Electrocardiol
, vol.11
, pp. 340-353
-
-
Wolff, L.1
Parkinson, J.2
White, P.D.3
-
44
-
-
80051547469
-
A probabilistic disease-gene finder for personal genomes
-
Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG. 2011. A probabilistic disease-gene finder for personal genomes. Genome Res 21:1529-1542.
-
(2011)
Genome Res
, vol.21
, pp. 1529-1542
-
-
Yandell, M.1
Huff, C.2
Hu, H.3
Singleton, M.4
Moore, B.5
Xing, J.6
Jorde, L.B.7
Reese, M.G.8
|