-
1
-
-
48249102392
-
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence
-
Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, Perry A, Abu-Libdeh A, Glaser B, Shyng SL, Zangen DH. 2008. Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. Diabetes 57: 1935-1940.
-
(2008)
Diabetes
, vol.57
, pp. 1935-1940
-
-
Abdulhadi-Atwan, M.1
Bushman, J.2
Tornovsky-Babaey, S.3
Perry, A.4
Abu-Libdeh, A.5
Glaser, B.6
Shyng, S.L.7
Zangen, D.H.8
-
2
-
-
84975076426
-
The promise and peril of genomic screening in the general population
-
Adams MC, Evans JP, Henderson GE, Berg JS. 2016. The promise and peril of genomic screening in the general population. Genet Med 18: 593-599.
-
(2016)
Genet Med
, vol.18
, pp. 593-599
-
-
Adams, M.C.1
Evans, J.P.2
Henderson, G.E.3
Berg, J.S.4
-
3
-
-
84902140288
-
Comparison of Parkinson risk in ashkenazi jewish patients with gaucher disease and GBA heterozygotes
-
Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, et al. 2014. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol 71: 752-757.
-
(2014)
JAMA Neurol
, vol.71
, pp. 752-757
-
-
Alcalay, R.N.1
Dinur, T.2
Quinn, T.3
Sakanaka, K.4
Levy, O.5
Waters, C.6
Fahn, S.7
Dorovski, T.8
Chung, W.K.9
Pauciulo, M.10
-
4
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, et al. 2015. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25: 305-315.
-
(2015)
Genome Res
, vol.25
, pp. 305-315
-
-
Amendola, L.M.1
Dorschner, M.O.2
Robertson, P.D.3
Salama, J.S.4
Hart, R.5
Shirts, B.H.6
Murray, M.L.7
Tokita, M.J.8
Gallego, C.J.9
Kim, D.S.10
-
5
-
-
85028235080
-
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort
-
Bacon S, Kyithar MP, Rizvi SR, Donnelly E, McCarthy A, Burke M, Colclough K, Ellard S, Byrne MM. 2015. Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort. Diabet Med 33: 976-984.
-
(2015)
Diabet Med
, vol.33
, pp. 976-984
-
-
Bacon, S.1
Kyithar, M.P.2
Rizvi, S.R.3
Donnelly, E.4
McCarthy, A.5
Burke, M.6
Colclough, K.7
Ellard, S.8
Byrne, M.M.9
-
6
-
-
84962168896
-
ABCC8 R1420H loss-of-function variant in a Southwest American Indian community: Association with increased birth weight and doubled risk of type 2 diabetes
-
Baier LJ, Muller YL, Remedi MS, Traurig M, Piaggi P, Wiessner G, Huang K, Stacy A, Kobes S, Krakoff J, et al. 2015. ABCC8 R1420H loss-of-function variant in a Southwest American Indian community: association with increased birth weight and doubled risk of type 2 diabetes. Diabetes 64: 4322-4332.
-
(2015)
Diabetes
, vol.64
, pp. 4322-4332
-
-
Baier, L.J.1
Muller, Y.L.2
Remedi, M.S.3
Traurig, M.4
Piaggi, P.5
Wiessner, G.6
Huang, K.7
Stacy, A.8
Kobes, S.9
Krakoff, J.10
-
7
-
-
79955525846
-
ATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism
-
ATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol 164: 733-740.
-
(2011)
Eur J Endocrinol
, vol.164
, pp. 733-740
-
-
Banerjee, I.1
Skae, M.2
Flanagan, S.E.3
Rigby, L.4
Patel, L.5
Didi, M.6
Blair, J.7
Ehtisham, S.8
Ellard, S.9
Cosgrove, K.E.10
-
8
-
-
84948949781
-
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation
-
Banno F, Kita T, Fernández JA, Yanamoto H, Tashima Y, Kokame K, Griffin JH, Miyata T. 2015. Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. Blood 126: 2247-2253.
-
(2015)
Blood
, vol.126
, pp. 2247-2253
-
-
Banno, F.1
Kita, T.2
Fernández, J.A.3
Yanamoto, H.4
Tashima, Y.5
Kokame, K.6
Griffin, J.H.7
Miyata, T.8
-
9
-
-
77952888956
-
Three novel mutations in MODY and its phenotype in three different Czech families
-
Bazalová Z, Rypácková B, Broz J, Brunerová L, Polák J, Rusavý Z, Treslová L, Andel M. 2010. Three novel mutations in MODY and its phenotype in three different Czech families. Diabetes Res Clin Pract 88: 132-138.
-
(2010)
Diabetes Res Clin Pract
, vol.88
, pp. 132-138
-
-
Bazalová, Z.1
Rypácková, B.2
Broz, J.3
Brunerová, L.4
Polák, J.5
Rusavý, Z.6
Treslová, L.7
Andel, M.8
-
10
-
-
40749151157
-
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3
-
Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, et al. 2008. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 57: 503-508.
-
(2008)
Diabetes
, vol.57
, pp. 503-508
-
-
Bellanné-Chantelot, C.1
Carette, C.2
Riveline, J.P.3
Valéro, R.4
Gautier, J.F.5
Larger, E.6
Reznik, Y.7
Ducluzeau, P.H.8
Sola, A.9
Hartemann-Heurtier, A.10
-
11
-
-
84994496503
-
Psychological, behavioral and social effects of disclosing Alzheimer's disease biomarkers to research participants: A systematic review
-
Bemelmans SA, Tromp K, Bunnik EM, Milne RJ, Badger S, Brayne C, Schermer MH, Richard E. 2016. Psychological, behavioral and social effects of disclosing Alzheimer's disease biomarkers to research participants: a systematic review. Alzheimers Res Ther 8: 46.
-
(2016)
Alzheimers Res Ther
, vol.8
, pp. 46
-
-
Bemelmans, S.A.1
Tromp, K.2
Bunnik, E.M.3
Milne, R.J.4
Badger, S.5
Brayne, C.6
Schermer, M.H.7
Richard, E.8
-
12
-
-
0037422207
-
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromo-cytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocyto-mas
-
Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ, Robinson BG. 2003. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromo-cytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocyto-mas. Oncogene 22: 1358-1364.
-
(2003)
Oncogene
, vol.22
, pp. 1358-1364
-
-
Benn, D.E.1
Croxson, M.S.2
Tucker, K.3
Bambach, C.P.4
Richardson, A.L.5
Delbridge, L.6
Pullan, P.T.7
Hammond, J.8
Marsh, D.J.9
Robinson, B.G.10
-
13
-
-
77957927865
-
The genetics of Alzheimer disease: Back to the future
-
Bertram L, Lill CM, Tanzi RE. 2010. The genetics of Alzheimer disease: back to the future. Neuron 68: 270-281.
-
(2010)
Neuron
, vol.68
, pp. 270-281
-
-
Bertram, L.1
Lill, C.M.2
Tanzi, R.E.3
-
14
-
-
84886789083
-
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews
-
Boursi B, Sella T, Liberman E, Shapira S, David M, Kazanov D, Arber N, Kraus S. 2013. The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. Eur J Cancer 49: 3680-3685.
-
(2013)
Eur J Cancer
, vol.49
, pp. 3680-3685
-
-
Boursi, B.1
Sella, T.2
Liberman, E.3
Shapira, S.4
David, M.5
Kazanov, D.6
Arber, N.7
Kraus, S.8
-
16
-
-
3042582651
-
∗ 1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies
-
∗ 1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74: 1175-1182.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1175-1182
-
-
-
17
-
-
84858433310
-
Personal omics profiling reveals dynamic molecular and medical phenotypes
-
Chen R, Mias GI, Li-Pook-Than J, Jiang L, Chen R, Lam HY, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, et al. 2012. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 148: 1293-1307.
-
(2012)
Cell
, vol.148
, pp. 1293-1307
-
-
Chen, R.1
Mias, G.I.2
Li-Pook-Than, J.3
Jiang, L.4
Chen, R.5
Lam, H.Y.6
Miriami, E.7
Karczewski, K.J.8
Hariharan, M.9
Dewey, F.E.10
-
18
-
-
84969941163
-
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
-
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, et al. 2016. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol 34: 531-538.
-
(2016)
Nat Biotechnol
, vol.34
, pp. 531-538
-
-
Chen, R.1
Shi, L.2
Hakenberg, J.3
Naughton, B.4
Sklar, P.5
Zhang, J.6
Zhou, H.7
Tian, L.8
Prakash, O.9
Lemire, M.10
-
19
-
-
84939978640
-
Patients' views on incidental findings from clinical exome sequencing
-
Clift KE, Halverson CM, Fiksdal AS, Kumbamu A, Sharp RR, McCormick JB. 2016. Patients' views on incidental findings from clinical exome sequencing. Appl Transl Genom 4: 38-43.
-
(2016)
Appl Transl Genom
, vol.4
, pp. 38-43
-
-
Clift, K.E.1
Halverson, C.M.2
Fiksdal, A.S.3
Kumbamu, A.4
Sharp, R.R.5
McCormick, J.B.6
-
20
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA. 1993. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261: 921-923.
-
(1993)
Science
, vol.261
, pp. 921-923
-
-
Corder, E.H.1
Saunders, A.M.2
Strittmatter, W.J.3
Schmechel, D.E.4
Gaskell, P.C.5
Small, G.W.6
Roses, A.D.7
Haines, J.L.8
Pericak-Vance, M.A.9
-
21
-
-
17544403804
-
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families
-
Costa A, Bescós M, Velho G, Chêvre J, Vidal J, Sesmilo G, Bellanné-Chantelot C, Froguel P, Casamitjana R, Rivera-Fillat F, et al. 2000. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 142: 380-386.
-
(2000)
Eur J Endocrinol
, vol.142
, pp. 380-386
-
-
Costa, A.1
Bescós, M.2
Velho, G.3
Chêvre, J.4
Vidal, J.5
Sesmilo, G.6
Bellanné-Chantelot, C.7
Froguel, P.8
Casamitjana, R.9
Rivera-Fillat, F.10
-
22
-
-
84884860407
-
Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups
-
De Stefano V, Rossi E. 2013. Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups. Thromb Haemost 110: 697-705.
-
(2013)
Thromb Haemost
, vol.110
, pp. 697-705
-
-
De Stefano, V.1
Rossi, E.2
-
23
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, et al. 2014. Clinical interpretation and implications of whole-genome sequencing. JAMA 311: 1035-1045.
-
(2014)
JAMA
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
Merker, J.D.7
Goldfeder, R.L.8
Enns, G.M.9
David, S.P.10
-
24
-
-
84946606845
-
Sequence to medical phenotypes: A framework for interpretation of human whole genome DNA sequence data
-
Dewey FE, Grove ME, Priest JR, Waggott D, Batra P, Miller CL, Wheeler M, Zia A, Pan C, Karzcewski KJ, et al. 2015. Sequence to medical phenotypes: a framework for interpretation of human whole genome DNA sequence data. PLoS Genet 11: e1005496.
-
(2015)
PLoS Genet
, vol.11
, pp. e1005496
-
-
Dewey, F.E.1
Grove, M.E.2
Priest, J.R.3
Waggott, D.4
Batra, P.5
Miller, C.L.6
Wheeler, M.7
Zia, A.8
Pan, C.9
Karzcewski, K.J.10
-
25
-
-
85007028930
-
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
-
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, et al. 2016. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science 354: aaf6814.
-
(2016)
Science
, vol.354
, pp. aaf6814
-
-
Dewey, F.E.1
Murray, M.F.2
Overton, J.D.3
Habegger, L.4
Leader, J.B.5
Fetterolf, S.N.6
O'Dushlaine, C.7
Van Hout, C.V.8
Staples, J.9
Gonzaga-Jauregui, C.10
-
26
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, et al. 2013. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 93: 631-640.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
-
27
-
-
0035865031
-
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
-
Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, et al. 2001. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet 10: 305-316.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 305-316
-
-
Font, M.A.1
Feliubadalo, L.2
Estivill, X.3
Nunes, V.4
Golomb, E.5
Kreiss, Y.6
Pras, E.7
Bisceglia, L.8
D'Adamo, A.P.9
Zelante, L.10
-
28
-
-
13144305057
-
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history
-
Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, et al. 1998. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci 95: 10722-10727.
-
(1998)
Proc Natl Acad Sci
, vol.95
, pp. 10722-10727
-
-
Frayling, I.M.1
Beck, N.E.2
Ilyas, M.3
Dove-Edwin, I.4
Goodman, P.5
Pack, K.6
Bell, J.A.7
Williams, C.B.8
Hodgson, S.V.9
Thomas, H.J.10
-
29
-
-
84937547912
-
Secondary findings and carrier test frequencies in a large multiethnic sample
-
Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, et al. 2015. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 7: 54.
-
(2015)
Genome Med
, vol.7
, pp. 54
-
-
Gambin, T.1
Jhangiani, S.N.2
Below, J.E.3
Campbell, I.M.4
Wiszniewski, W.5
Muzny, D.M.6
Staples, J.7
Morrison, A.C.8
Bainbridge, M.N.9
Penney, S.10
-
30
-
-
84868292211
-
Clinical features and treatment of maturity onset diabetes of the young (MODY)
-
Gardner DS, Tai ES. 2012. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabetes Metab Syndr Obes 5: 101-108.
-
(2012)
Diabetes Metab Syndr Obes
, vol.5
, pp. 101-108
-
-
Gardner, D.S.1
Tai, E.S.2
-
31
-
-
0036774422
-
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X. 2002. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab 87: 4771-4774.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4771-4774
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Rieubland, C.4
Kerlan, V.5
Plouin, P.F.6
Rotig, A.7
Jeunemaitre, X.8
-
33
-
-
67650925282
-
Disclosure of APOE genotype for risk of Alzheimer's disease
-
Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, Eckert SL, Butson M, Sadovnick AD, Quaid KA, et al. 2009. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med 361: 245-254.
-
(2009)
N Engl J Med
, vol.361
, pp. 245-254
-
-
Green, R.C.1
Roberts, J.S.2
Cupples, L.A.3
Relkin, N.R.4
Whitehouse, P.J.5
Brown, T.6
Eckert, S.L.7
Butson, M.8
Sadovnick, A.D.9
Quaid, K.A.10
-
34
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15: 565-574.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
-
35
-
-
84924030069
-
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis
-
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, et al. 2014. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol 26: 543-551.
-
(2014)
J Am Soc Nephrol
, vol.26
, pp. 543-551
-
-
Halbritter, J.1
Baum, M.2
Hynes, A.M.3
Rice, S.J.4
Thwaites, D.T.5
Gucev, Z.S.6
Fisher, B.7
Spaneas, L.8
Porath, J.D.9
Braun, D.A.10
-
36
-
-
33646837867
-
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
-
Halperin A, Elstein D, Zimran A. 2006. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 36: 426-428.
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 426-428
-
-
Halperin, A.1
Elstein, D.2
Zimran, A.3
-
37
-
-
13444266370
-
Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33: D514-D517.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. D514-D517
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.S.3
Bocchini, C.A.4
McKusick, V.A.5
-
38
-
-
79952185524
-
Mesenteric venous thrombosis in a child with type 2 protein S deficiency
-
Hayakawa T, Morimoto A, Nozaki Y, Kashii Y, Aihara T, Maeda K, Momoi MY. 2011. Mesenteric venous thrombosis in a child with type 2 protein S deficiency. J Pediatr Hematol Oncol 33: 141-143.
-
(2011)
J Pediatr Hematol Oncol
, vol.33
, pp. 141-143
-
-
Hayakawa, T.1
Morimoto, A.2
Nozaki, Y.3
Kashii, Y.4
Aihara, T.5
Maeda, K.6
Momoi, M.Y.7
-
39
-
-
0027953010
-
Protein S Tokushima: Abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S
-
Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. 1994. Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood 83: 683-690.
-
(1994)
Blood
, vol.83
, pp. 683-690
-
-
Hayashi, T.1
Nishioka, J.2
Shigekiyo, T.3
Saito, S.4
Suzuki, K.5
-
40
-
-
84863873006
-
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
-
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, et al. 2012. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 33: 1228-1238.
-
(2012)
Hum Mutat
, vol.33
, pp. 1228-1238
-
-
Houdayer, C.1
Caux-Moncoutier, V.2
Krieger, S.3
Barrois, M.4
Bonnet, F.5
Bourdon, V.6
Bronner, M.7
Buisson, M.8
Coulet, F.9
Gaildrat, P.10
-
41
-
-
84961690116
-
Common genetic risk factors of venous thromboembolism in Western and Asian populations
-
Huang SS, Liu Y, Jing ZC, Wang XJ, Mao YM. 2016. Common genetic risk factors of venous thromboembolism in Western and Asian populations. Genet Mol Res 15: 15017644.
-
(2016)
Genet Mol Res
, vol.15
, pp. 15017644
-
-
Huang, S.S.1
Liu, Y.2
Jing, Z.C.3
Wang, X.J.4
Mao, Y.M.5
-
42
-
-
0033803049
-
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
-
Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, et al. 2000. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 106: 897-906.
-
(2000)
J Clin Invest
, vol.106
, pp. 897-906
-
-
Huopio, H.1
Reimann, F.2
Ashfield, R.3
Komulainen, J.4
Lenko, H.L.5
Rahier, J.6
Vauhkonen, I.7
Kere, J.8
Laakso, M.9
Ashcroft, F.10
-
43
-
-
0037464795
-
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
-
Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M. 2003. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 361: 301-307.
-
(2003)
Lancet
, vol.361
, pp. 301-307
-
-
Huopio, H.1
Otonkoski, T.2
Vauhkonen, I.3
Reimann, F.4
Ashcroft, F.M.5
Laakso, M.6
-
44
-
-
77956916949
-
The association of protein S Tokushima-K196E with a risk of deep vein thrombosis
-
Ikejiri M, Wada H, Sakamoto Y, Ito N, Nishioka J, Nakatani K, Tsuji A, Yamada N, Nakamura M, Ito M, et al. 2010. The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. Int J Hematol 92: 302-305.
-
(2010)
Int J Hematol
, vol.92
, pp. 302-305
-
-
Ikejiri, M.1
Wada, H.2
Sakamoto, Y.3
Ito, N.4
Nishioka, J.5
Nakatani, K.6
Tsuji, A.7
Yamada, N.8
Nakamura, M.9
Ito, M.10
-
45
-
-
85046023833
-
Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar
-
Jain A, Gandhi S, Koshy R, Scaria V. 2018. Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. Mol Genet Genomics 293: 919-929.
-
(2018)
Mol Genet Genomics
, vol.293
, pp. 919-929
-
-
Jain, A.1
Gandhi, S.2
Koshy, R.3
Scaria, V.4
-
46
-
-
84957630061
-
Incidentalome from genomic sequencing: A barrier to personalized medicine?
-
Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Law HY, Tan ES, et al. 2016. Incidentalome from genomic sequencing: a barrier to personalized medicine? EBioMedicine 5: 211-216.
-
(2016)
EBioMedicine
, vol.5
, pp. 211-216
-
-
Jamuar, S.S.1
Kuan, J.L.2
Brett, M.3
Tiang, Z.4
Tan, W.L.5
Lim, J.Y.6
Liew, W.K.7
Javed, A.8
Law, H.Y.9
Tan, E.S.10
-
47
-
-
84949237792
-
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes
-
Jang MA, Lee SH, Kim N, Ki CS. 2015. Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med 17: 1007-1011.
-
(2015)
Genet Med
, vol.17
, pp. 1007-1011
-
-
Jang, M.A.1
Lee, S.H.2
Kim, N.3
Ki, C.S.4
-
48
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. 2012. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 91: 97-108.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
49
-
-
84984914666
-
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
-
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, et al. 2015. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet 96: 913-925.
-
(2015)
Am J Hum Genet
, vol.96
, pp. 913-925
-
-
Johnston, J.J.1
Lewis, K.L.2
Ng, D.3
Singh, L.N.4
Wynter, J.5
Brewer, C.6
Brooks, B.P.7
Brownell, I.8
Candotti, F.9
Gonsalves, S.G.10
-
50
-
-
84939157303
-
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
-
Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N. 2015. Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17: 782-788.
-
(2015)
Genet Med
, vol.17
, pp. 782-788
-
-
Jurgens, J.1
Ling, H.2
Hetrick, K.3
Pugh, E.4
Schiettecatte, F.5
Doheny, K.6
Hamosh, A.7
Avramopoulos, D.8
Valle, D.9
Sobreira, N.10
-
51
-
-
85011835129
-
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics
-
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, et al. 2017. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 19: 249-255.
-
(2017)
Genet Med
, vol.19
, pp. 249-255
-
-
Kalia, S.S.1
Adelman, K.2
Bale, S.J.3
Chung, W.K.4
Eng, C.5
Evans, J.P.6
Herman, G.E.7
Hufnagel, S.B.8
Klein, T.E.9
Korf, B.R.10
-
52
-
-
80054092390
-
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/ KCNJ11 mutations
-
Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K. 2011. Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/ KCNJ11 mutations. Diabetologia 54: 2575-2583.
-
(2011)
Diabetologia
, vol.54
, pp. 2575-2583
-
-
Kapoor, R.R.1
Flanagan, S.E.2
James, C.T.3
McKiernan, J.4
Thomas, A.M.5
Harmer, S.C.6
Shield, J.P.7
Tinker, A.8
Ellard, S.9
Hussain, K.10
-
53
-
-
84937038780
-
Structural and functional consequences of succinate dehydrogenase subunit B mutations
-
Kim E, Rath EM, Tsang VH, Duff AP, Robinson BG, Church WB, Benn DE, Dwight T, Clifton-Bligh RJ. 2015. Structural and functional consequences of succinate dehydrogenase subunit B mutations. Endocr Relat Cancer 22: 387-397.
-
(2015)
Endocr Relat Cancer
, vol.22
, pp. 387-397
-
-
Kim, E.1
Rath, E.M.2
Tsang, V.H.3
Duff, A.P.4
Robinson, B.G.5
Church, W.B.6
Benn, D.E.7
Dwight, T.8
Clifton-Bligh, R.J.9
-
54
-
-
84903577999
-
Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma
-
Kimura N, Takekoshi K, Horii A, Morimoto R, Imai T, Oki Y, Saito T, Midorikawa S, Arao T, Sugisawa C, et al. 2014. Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma. Endocr Relat Cancer 21: L13-L16.
-
(2014)
Endocr Relat Cancer
, vol.21
, pp. L13-L16
-
-
Kimura, N.1
Takekoshi, K.2
Horii, A.3
Morimoto, R.4
Imai, T.5
Oki, Y.6
Saito, T.7
Midorikawa, S.8
Arao, T.9
Sugisawa, C.10
-
55
-
-
33747152200
-
Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers
-
Kimura R, Sakata T, Kokubo Y, Okamoto A, Okayama A, Tomoike H, Miyata T. 2006. Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. J Thromb Haemost 4: 2010-2013.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 2010-2013
-
-
Kimura, R.1
Sakata, T.2
Kokubo, Y.3
Okamoto, A.4
Okayama, A.5
Tomoike, H.6
Miyata, T.7
-
56
-
-
84931043936
-
Functional complemen-tation assay for 47 MUTYH variants in a MutY-disrupted Escherichia coli strain
-
Komine K, Shimodaira H, Takao M, Soeda H, Zhang X, Takahashi M, Ishioka C. 2015. Functional complemen-tation assay for 47 MUTYH variants in a MutY-disrupted Escherichia coli strain. Hum Mutat 36: 704-711.
-
(2015)
Hum Mutat
, vol.36
, pp. 704-711
-
-
Komine, K.1
Shimodaira, H.2
Takao, M.3
Soeda, H.4
Zhang, X.5
Takahashi, M.6
Ishioka, C.7
-
57
-
-
16944365288
-
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
-
Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, et al. 1997. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17: 79-83.
-
(1997)
Nat Genet
, vol.17
, pp. 79-83
-
-
Laken, S.J.1
Petersen, G.M.2
Gruber, S.B.3
Oddoux, C.4
Ostrer, H.5
Giardiello, F.M.6
Hamilton, S.R.7
Hampel, H.8
Markowitz, A.9
Klimstra, D.10
-
58
-
-
84857956783
-
Detecting and annotating genetic variations using the HugeSeq pipeline
-
Lam HY, Pan C, Clark MJ, Lacroute P, Chen R, Haraksingh R, O'Huallachain M, Gerstein MB, Kidd JM, Bustamante CD, et al. 2012. Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol 30: 226-229.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 226-229
-
-
Lam, H.Y.1
Pan, C.2
Clark, M.J.3
Lacroute, P.4
Chen, R.5
Haraksingh, R.6
O'Huallachain, M.7
Gerstein, M.B.8
Kidd, J.M.9
Bustamante, C.D.10
-
59
-
-
84891809093
-
Clinvar: Public archive of relationships among sequence variation and human phenotype
-
Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. 2014. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42: D980-D985.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
Maglott, D.R.7
-
60
-
-
84991491933
-
The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
-
Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, et al. 2014. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med 16: 741-750.
-
(2014)
Genet Med
, vol.16
, pp. 741-750
-
-
Lawrence, L.1
Sincan, M.2
Markello, T.3
Adams, D.R.4
Gill, F.5
Godfrey, R.6
Golas, G.7
Groden, C.8
Landis, D.9
Nehrebecky, M.10
-
61
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al. 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536: 285-291.
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
Fennell, T.6
O'Donnell-Luria, A.H.7
Ware, J.S.8
Hill, A.J.9
Cummings, B.B.10
-
62
-
-
84975089400
-
Participant use and communication of findings from exome sequencing: A mixed-methods study
-
Lewis KL, Hooker GW, Connors PD, Hyams TC, Wright MF, Caldwell S, Biesecker LG, Biesecker BB. 2016. Participant use and communication of findings from exome sequencing: a mixed-methods study. Genet Med 18: 577-583.
-
(2016)
Genet Med
, vol.18
, pp. 577-583
-
-
Lewis, K.L.1
Hooker, G.W.2
Connors, P.D.3
Hyams, T.C.4
Wright, M.F.5
Caldwell, S.6
Biesecker, L.G.7
Biesecker, B.B.8
-
63
-
-
77957270156
-
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
-
Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M, Hershberger RE. 2010. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci 3: 90-97.
-
(2010)
Clin Transl Sci
, vol.3
, pp. 90-97
-
-
Li, D.1
Morales, A.2
Gonzalez-Quintana, J.3
Norton, N.4
Siegfried, J.D.5
Hofmeyer, M.6
Hershberger, R.E.7
-
64
-
-
84878562585
-
APC polymorphisms and the risk of colorectal neoplasia: A HuGE review and meta-analysis
-
Liang J, Lin C, Hu F, Wang F, Zhu L, Yao X, Wang Y, Zhao Y. 2013. APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. Am J Epidemiol 177: 1169-1179.
-
(2013)
Am J Epidemiol
, vol.177
, pp. 1169-1179
-
-
Liang, J.1
Lin, C.2
Hu, F.3
Wang, F.4
Zhu, L.5
Yao, X.6
Wang, Y.7
Zhao, Y.8
-
65
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, et al. 2013. Implementing genomic medicine in the clinic: the future is here. Genet Med 15: 258-267.
-
(2013)
Genet Med
, vol.15
, pp. 258-267
-
-
Manolio, T.A.1
Chisholm, R.L.2
Ozenberger, B.3
Roden, D.M.4
Williams, M.S.5
Wilson, R.6
Bick, D.7
Bottinger, E.P.8
Brilliant, M.H.9
Eng, C.10
-
66
-
-
84975880719
-
Towards increasing the clinical relevance of in silico methods to predict pathogenic missense variants
-
Masica DL, Karchin R. 2016. Towards increasing the clinical relevance of in silico methods to predict pathogenic missense variants. PLoS Comput Biol 12: e1004725.
-
(2016)
PLoS Comput Biol
, vol.12
, pp. e1004725
-
-
Masica, D.L.1
Karchin, R.2
-
67
-
-
77956295988
-
The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
-
68
-
-
18544389716
-
∗ )1100delC in noncarriers of BRCA1 or BRCA2 mutations
-
∗ )1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59.
-
(2002)
Nat Genet
, vol.31
, pp. 55-59
-
-
Meijers-Heijboer, H.1
Van Den Ouweland, A.2
Klijn, J.3
Wasielewski, M.4
De Snoo, A.5
Oldenburg, R.6
Hollestelle, A.7
Houben, M.8
Crepin, E.9
Van Veghel-Plandsoen, M.10
-
69
-
-
25844529526
-
Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas
-
Miyaki M, Iijima T, Yamaguchi T, Hishima T, Tamura K, Utsunomiya J, Mori T. 2005. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 578: 430-433.
-
(2005)
Mutat Res
, vol.578
, pp. 430-433
-
-
Miyaki, M.1
Iijima, T.2
Yamaguchi, T.3
Hishima, T.4
Tamura, K.5
Utsunomiya, J.6
Mori, T.7
-
70
-
-
64649084828
-
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis
-
Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, Kokame K, Kimura R, Honda S, Kawasaki T, et al. 2009. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb Res 124: 14-18.
-
(2009)
Thromb Res
, vol.124
, pp. 14-18
-
-
Miyata, T.1
Sato, Y.2
Ishikawa, J.3
Okada, H.4
Takeshita, S.5
Sakata, T.6
Kokame, K.7
Kimura, R.8
Honda, S.9
Kawasaki, T.10
-
71
-
-
85059771806
-
National comprehensive cancer network
-
National Comprehensive Cancer Network. Version 2.2016
-
National Comprehensive Cancer Network. 2016. National Comprehensive Cancer Network. Colorectal Cancer Screening (Version 2.2016).
-
(2016)
Colorectal Cancer Screening
-
-
-
72
-
-
85013845167
-
-
National Comprehensive Cancer Network. National Comprehensive Cancer Network. Version 2.2017
-
National Comprehensive Cancer Network. 2017. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2017).
-
(2017)
Genetic/Familial High-Risk Assessment: Breast and Ovarian
-
-
-
73
-
-
84906978168
-
-
National Diabetes Statistics Report. Centers for Disease Control and Prevention. U.S. Department of Health and Human Services, Atlanta, GA
-
National Diabetes Statistics Report. 2014. National Diabetes Statistics Report: Estimates of Diabetes and Its Burden in the United States, 2014. Centers for Disease Control and Prevention. U.S. Department of Health and Human Services, Atlanta, GA.
-
(2014)
National Diabetes Statistics Report: Estimates of Diabetes and Its Burden in the United States, 2014
-
-
-
74
-
-
80052358034
-
Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum
-
Neki R, Fujita T, Kokame K, Nakanishi I, Waguri M, Imayoshi Y, Suehara N, Ikeda T, Miyata T. 2011. Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. Int J Hematol 94: 150-155.
-
(2011)
Int J Hematol
, vol.94
, pp. 150-155
-
-
Neki, R.1
Fujita, T.2
Kokame, K.3
Nakanishi, I.4
Waguri, M.5
Imayoshi, Y.6
Suehara, N.7
Ikeda, T.8
Miyata, T.9
-
75
-
-
35348976129
-
Similar colorectal cancer risk in patients with mono-allelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis
-
Olschwang S, Blanché H, de Moncuit C, Thomas G. 2007. Similar colorectal cancer risk in patients with mono-allelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. Genet Test 11: 315-320.
-
(2007)
Genet Test
, vol.11
, pp. 315-320
-
-
Olschwang, S.1
Blanché, H.2
De Moncuit, C.3
Thomas, G.4
-
76
-
-
84938894761
-
Achieving high-sensitivity for clinical applications using augmented exome sequencing
-
Patwardhan A, Harris J, Leng N, Bartha G, Church DM, Luo S, Haudenschild C, Pratt M, Zook J, Salit M, et al. 2015. Achieving high-sensitivity for clinical applications using augmented exome sequencing. Genome Med 7: 71.
-
(2015)
Genome Med
, vol.7
, pp. 71
-
-
Patwardhan, A.1
Harris, J.2
Leng, N.3
Bartha, G.4
Church, D.M.5
Luo, S.6
Haudenschild, C.7
Pratt, M.8
Zook, J.9
Salit, M.10
-
77
-
-
0142186278
-
Genetic cause of hyperglycae-mia and response to treatment in diabetes
-
Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. 2003. Genetic cause of hyperglycae-mia and response to treatment in diabetes. Lancet 362: 1275-1281.
-
(2003)
Lancet
, vol.362
, pp. 1275-1281
-
-
Pearson, E.R.1
Starkey, B.J.2
Powell, R.J.3
Gribble, F.M.4
Clark, P.M.5
Hattersley, A.T.6
-
78
-
-
84868136807
-
Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer
-
Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T. 2012. Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. PLoS One 7: e47993.
-
(2012)
PLoS One
, vol.7
-
-
Pern, F.1
Bogdanova, N.2
Schürmann, P.3
Lin, M.4
Ay, A.5
Länger, F.6
Hillemanns, P.7
Christiansen, H.8
Park-Simon, T.W.9
Dörk, T.10
-
79
-
-
84884592445
-
Genic intolerance to functional variation and the interpretation of personal genomes
-
Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. 2013. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 9: e1003709.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003709
-
-
Petrovski, S.1
Wang, Q.2
Heinzen, E.L.3
Allen, A.S.4
Goldstein, D.B.5
-
80
-
-
48749109863
-
ATP channel mutations
-
ATP channel mutations. J Clin Invest 118: 2877-2886.
-
(2008)
J Clin Invest
, vol.118
, pp. 2877-2886
-
-
Pinney, S.E.1
MacMullen, C.2
Becker, S.3
Lin, Y.W.4
Hanna, C.5
Thornton, P.6
Ganguly, A.7
Shyng, S.L.8
Stanley, C.A.9
-
81
-
-
85041390512
-
The personal genome project Canada: Findings from whole genome sequences of the inaugural 56 participants
-
Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, et al. 2018. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ 190: E126-E136.
-
(2018)
CMAJ
, vol.190
, pp. E126-E136
-
-
Reuter, M.S.1
Walker, S.2
Thiruvahindrapuram, B.3
Whitney, J.4
Cohn, I.5
Sondheimer, N.6
Yuen, R.K.C.7
Trost, B.8
Paton, T.A.9
Pereira, S.L.10
-
82
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17: 405-424.
-
(2015)
Genet Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
-
83
-
-
84884588531
-
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability
-
Ruggieri V, Pin E, Russo MT, Barone F, Degan P, Sanchez M, Quaia M, Minoprio A, Turco E, Mazzei F, et al. 2012. Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. Oncogene 32: 4500-4508.
-
(2012)
Oncogene
, vol.32
, pp. 4500-4508
-
-
Ruggieri, V.1
Pin, E.2
Russo, M.T.3
Barone, F.4
Degan, P.5
Sanchez, M.6
Quaia, M.7
Minoprio, A.8
Turco, E.9
Mazzei, F.10
-
84
-
-
85008385061
-
Psychological and behavioural impact of returning personal results from whole-genome sequencing: The HealthSeq project
-
Sanderson SC, Linderman MD, Suckiel SA, Zinberg R, Wasserstein M, Kasarskis A, Diaz GA, Schadt EE. 2017. Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project. Eur J Hum Genet 25: 280-292.
-
(2017)
Eur J Hum Genet
, vol.25
, pp. 280-292
-
-
Sanderson, S.C.1
Linderman, M.D.2
Suckiel, S.A.3
Zinberg, R.4
Wasserstein, M.5
Kasarskis, A.6
Diaz, G.A.7
Schadt, E.E.8
-
85
-
-
84956575209
-
SDHB-deficient cancers: The role of mutations that impair iron sulfur cluster delivery
-
Saxena N, Maio N, Crooks DR, Ricketts CJ, Yang Y, Wei MH, Fan TW, Lane AN, Sourbier C, Singh A, et al. 2016. SDHB-deficient cancers: the role of mutations that impair iron sulfur cluster delivery. J Natl Cancer Inst 108: djv287.
-
(2016)
J Natl Cancer Inst
, vol.108
, pp. djv287
-
-
Saxena, N.1
Maio, N.2
Crooks, D.R.3
Ricketts, C.J.4
Yang, Y.5
Wei, M.H.6
Fan, T.W.7
Lane, A.N.8
Sourbier, C.9
Singh, A.10
-
86
-
-
64249170094
-
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
-
Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT. 2009. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med 26: 437-441.
-
(2009)
Diabet Med
, vol.26
, pp. 437-441
-
-
Shepherd, M.1
Shields, B.2
Ellard, S.3
Rubio-Cabezas, O.4
Hattersley, A.T.5
-
87
-
-
0037083566
-
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
-
Shih HA, Couch FJ, Nathanson KL, Blackwood MA, Rebbeck TR, Armstrong KA, Calzone K, Stopfer J, Seal S, Stratton MR, et al. 2002. BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol 20: 994-999.
-
(2002)
J Clin Oncol
, vol.20
, pp. 994-999
-
-
Shih, H.A.1
Couch, F.J.2
Nathanson, K.L.3
Blackwood, M.A.4
Rebbeck, T.R.5
Armstrong, K.A.6
Calzone, K.7
Stopfer, J.8
Seal, S.9
Stratton, M.R.10
-
88
-
-
84873643510
-
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism
-
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A. 2013. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab 98: E355-E363.
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. E355-E363
-
-
Snider, K.E.1
Becker, S.2
Boyajian, L.3
Shyng, S.L.4
MacMullen, C.5
Hughes, N.6
Ganapathy, K.7
Bhatti, T.8
Stanley, C.A.9
Ganguly, A.10
-
89
-
-
0037903275
-
Human gene mutation database (HGMD): 2003 update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21: 577-581.
-
(2003)
Hum Mutat
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
90
-
-
0035127921
-
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews
-
Stern HS, Viertelhausen S, Hunter AG, O'Rourke K, Cappelli M, Perras H, Serfas K, Blumenthall A, Dewar D, Baumann E, et al. 2001. APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology 120: 392-400.
-
(2001)
Gastroenterology
, vol.120
, pp. 392-400
-
-
Stern, H.S.1
Viertelhausen, S.2
Hunter, A.G.3
O'Rourke, K.4
Cappelli, M.5
Perras, H.6
Serfas, K.7
Blumenthall, A.8
Dewar, D.9
Baumann, E.10
-
91
-
-
85059747542
-
Like mother like son? Variable expression and phenotype of an inactivating dominant ATP-binding cassette sub-family C member 8 (ABCC8) gene mutation within a single family
-
Stranks JL, Zimmermann AT, Radhakutty A, Vora P, Mann Mah P. 2016. Like mother like son? Variable expression and phenotype of an inactivating dominant ATP-binding cassette sub-family C member 8 (ABCC8) gene mutation within a single family. Vol 84. Annual Scientific Meeting of the Endocrine-Society-of-Australia, Conference paper.
-
(2016)
Annual Scientific Meeting of the Endocrine-Society-of-Australia, Conference Paper
, vol.84
-
-
Stranks, J.L.1
Zimmermann, A.T.2
Radhakutty, A.3
Vora, P.4
Mann Mah, P.5
-
92
-
-
84905912748
-
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: Implications for the return of incidental results
-
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, et al. 2014. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet 95: 183-193.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 183-193
-
-
Tabor, H.K.1
Auer, P.L.2
Jamal, S.M.3
Chong, J.X.4
Yu, J.H.5
Gordon, A.S.6
Graubert, T.A.7
O'Donnell, C.J.8
Rich, S.S.9
Nickerson, D.A.10
-
93
-
-
85033497727
-
Actionable secondary findings from whole-genome sequencing of 954 East Asians
-
Tang CS, Dattani S, So MT, Cherny SS, Tam PKH, Sham PC, Garcia-Barcelo MM. 2018. Actionable secondary findings from whole-genome sequencing of 954 East Asians. Hum Genet 137: 31-37.
-
(2018)
Hum Genet
, vol.137
, pp. 31-37
-
-
Tang, C.S.1
Dattani, S.2
So, M.T.3
Cherny, S.S.4
Tam, P.K.H.5
Sham, P.C.6
Garcia-Barcelo, M.M.7
-
94
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. 2003. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79: 104-109.
-
(2003)
Mol Genet Metab
, vol.79
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
Orvisky, E.4
LaMarca, M.E.5
Wong, K.6
Rosenbaum, H.7
Schiffmann, R.8
Bembi, B.9
Sidransky, E.10
-
95
-
-
84907686349
-
The integrative human microbiome project: Dynamic analysis of microbiome-host omics profiles during periods of human health and disease
-
The Integrative Human Microbiome Project
-
The Integrative Human Microbiome Project. 2014. The Integrative Human Microbiome Project: dynamic analysis of microbiome-host omics profiles during periods of human health and disease. Cell Host Microbe 16: 276-289.
-
(2014)
Cell Host Microbe
, vol.16
, pp. 276-289
-
-
-
96
-
-
84943171338
-
A global reference for human genetic variation
-
The 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR, et al. 2015. A global reference for human genetic variation. Nature 526: 68-74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
Korbel, J.O.6
Marchini, J.L.7
McCarthy, S.8
McVean, G.A.9
Abecasis, G.R.10
-
97
-
-
0041819997
-
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
-
Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA. 2003. Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes 52: 2403-2410.
-
(2003)
Diabetes
, vol.52
, pp. 2403-2410
-
-
Thornton, P.S.1
MacMullen, C.2
Ganguly, A.3
Ruchelli, E.4
Steinkrauss, L.5
Crane, A.6
Aguilar-Bryan, L.7
Stanley, C.A.8
-
98
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
Thusberg J, Olatubosun A, Vihinen M. 2011. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32: 358-368.
-
(2011)
Hum Mutat
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
99
-
-
0036460039
-
High frequency of mutations in the HNF-1α gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance
-
Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J. 2002. High frequency of mutations in the HNF-1α gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 45: 1709-1712.
-
(2002)
Diabetologia
, vol.45
, pp. 1709-1712
-
-
Tonooka, N.1
Tomura, H.2
Takahashi, Y.3
Onigata, K.4
Kikuchi, N.5
Horikawa, Y.6
Mori, M.7
Takeda, J.8
-
100
-
-
77956493835
-
Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age
-
Turkovic L, Gurrin LC, Bahlo M, Dite GS, Southey MC, Hopper JL. 2010. Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age. BMC Cancer 10: 466.
-
(2010)
BMC Cancer
, vol.10
, pp. 466
-
-
Turkovic, L.1
Gurrin, L.C.2
Bahlo, M.3
Dite, G.S.4
Southey, M.C.5
Hopper, J.L.6
-
101
-
-
84941996137
-
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases
-
Vail PJ, Morris B, van Kan A, Burdett BC, Moyes K, Theisen A, Kerr ID, Wenstrup RJ, Eggington JM. 2015. Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. J Community Genet 6: 351-359.
-
(2015)
J Community Genet
, vol.6
, pp. 351-359
-
-
Vail, P.J.1
Morris, B.2
Van Kan, A.3
Burdett, B.C.4
Moyes, K.5
Theisen, A.6
Kerr, I.D.7
Wenstrup, R.J.8
Eggington, J.M.9
-
102
-
-
84990242141
-
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: A systematic review and meta-analysis
-
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K. 2016. Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. J Thromb Haemost 14: 1393-1403.
-
(2016)
J Thromb Haemost
, vol.14
, pp. 1393-1403
-
-
Van Vlijmen, E.F.1
Wiewel-Verschueren, S.2
Monster, T.B.3
Meijer, K.4
-
103
-
-
85026656059
-
The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: A pilot randomized trial
-
Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, et al. 2017. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med 167: 159-169.
-
(2017)
Ann Intern Med
, vol.167
, pp. 159-169
-
-
Vassy, J.L.1
Christensen, K.D.2
Schonman, E.F.3
Blout, C.L.4
Robinson, J.O.5
Krier, J.B.6
Diamond, P.M.7
Lebo, M.8
Machini, K.9
Azzariti, D.R.10
-
104
-
-
8244219694
-
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)
-
Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, et al. 1997. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet 6: 583-586.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 583-586
-
-
Vaxillaire, M.1
Rouard, M.2
Yamagata, K.3
Oda, N.4
Kaisaki, P.J.5
Boriraj, V.V.6
Chevre, J.C.7
Boccio, V.8
Cox, R.D.9
Lathrop, G.M.10
-
105
-
-
77958523353
-
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
-
Vieira TC, Bergamin CS, Gurgel LC, Moisés RS. 2010. Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. Pediatr Diabetes 11: 505-508.
-
(2010)
Pediatr Diabetes
, vol.11
, pp. 505-508
-
-
Vieira, T.C.1
Bergamin, C.S.2
Gurgel, L.C.3
Moisés, R.S.4
-
106
-
-
58349088957
-
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs
-
Vreeswijk MP, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, Wijnen JT, Bakker E, van Asperen CJ, Devilee P. 2008. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Hum Mutat 30: 107-114.
-
(2008)
Hum Mutat
, vol.30
, pp. 107-114
-
-
Vreeswijk, M.P.1
Kraan, J.N.2
Van Der Klift, H.M.3
Vink, G.R.4
Cornelisse, C.J.5
Wijnen, J.T.6
Bakker, E.7
Van Asperen, C.J.8
Devilee, P.9
-
107
-
-
84866611528
-
Pharmacogenomics knowledge for personalized medicine
-
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE. 2012. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther 92: 414-417.
-
(2012)
Clin Pharmacol Ther
, vol.92
, pp. 414-417
-
-
Whirl-Carrillo, M.1
McDonagh, E.M.2
Hebert, J.M.3
Gong, L.4
Sangkuhl, K.5
Thorn, C.F.6
Altman, R.B.7
Klein, T.E.8
-
108
-
-
84899413123
-
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
-
e1201-1205
-
Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, Clendenning M, Rosty C, MacInnis RJ, Giles GG, et al. 2014. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 146: 1208-1211.e1201-1205.
-
(2014)
Gastroenterology
, vol.146
, pp. 1208-1211
-
-
Win, A.K.1
Dowty, J.G.2
Cleary, S.P.3
Kim, H.4
Buchanan, D.D.5
Young, J.P.6
Clendenning, M.7
Rosty, C.8
MacInnis, R.J.9
Giles, G.G.10
-
109
-
-
0031595693
-
The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews
-
Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, Tucker MA, Brody LC. 1998. The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 20: 62-65.
-
(1998)
Nat Genet
, vol.20
, pp. 62-65
-
-
Woodage, T.1
King, S.M.2
Wacholder, S.3
Hartge, P.4
Struewing, J.P.5
McAdams, M.6
Laken, S.J.7
Tucker, M.A.8
Brody, L.C.9
-
110
-
-
80755186927
-
Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility
-
Xiang HP, Geng XP, Ge WW, Li H. 2011. Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. Eur J Cancer 47: 2546-2551.
-
(2011)
Eur J Cancer
, vol.47
, pp. 2546-2551
-
-
Xiang, H.P.1
Geng, X.P.2
Ge, W.W.3
Li, H.4
-
111
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, et al. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91: 1022-1032.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
Phillips, A.D.7
Shaw, K.8
Stenson, P.D.9
Cooper, D.N.10
-
112
-
-
0033048609
-
Identification of mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins
-
Yamada S, Tomura H, Nishigori H, Sho K, Mabe H, Iwatani N, Takumi T, Kito Y, Moriya N, Muroya K, et al. 1999. Identification of mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. Diabetes 48: 645-648.
-
(1999)
Diabetes
, vol.48
, pp. 645-648
-
-
Yamada, S.1
Tomura, H.2
Nishigori, H.3
Sho, K.4
Mabe, H.5
Iwatani, N.6
Takumi, T.7
Kito, Y.8
Moriya, N.9
Muroya, K.10
-
113
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, et al. 2014. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312: 1870-1879.
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
Niu, Z.4
Person, R.5
Ding, Y.6
Ward, P.7
Braxton, A.8
Wang, M.9
Buhay, C.10
-
114
-
-
84960421177
-
Patient preferences regarding incidental genomic findings discovered during tumor profiling
-
Yushak ML, Han G, Bouberhan S, Epstein L, DiGiovanna MP, Mougalian SS, Sanft TB, Abu-Khalaf MM, Chung GG, Stein SM, et al. 2016. Patient preferences regarding incidental genomic findings discovered during tumor profiling. Cancer 122: 1588-1597.
-
(2016)
Cancer
, vol.122
, pp. 1588-1597
-
-
Yushak, M.L.1
Han, G.2
Bouberhan, S.3
Epstein, L.4
DiGiovanna, M.P.5
Mougalian, S.S.6
Sanft, T.B.7
Abu-Khalaf, M.M.8
Chung, G.G.9
Stein, S.M.10
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