메뉴 건너뛰기




Volumn 122, Issue 22, 2013, Pages 3575-3582

Applications of high-throughput DNA sequencing to benign hematology

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER;

EID: 84892507301     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-07-460337     Document Type: Review
Times cited : (21)

References (87)
  • 2
    • 0000192486 scopus 로고
    • Sickle cell anemia a molecular disease
    • Pauling L, Itano HA, et al. Sickle cell anemia a molecular disease. Science. 1949;110(2865): 543-548.
    • (1949) Science , vol.110 , Issue.2865 , pp. 543-548
    • Pauling, L.1    Itano, H.A.2
  • 3
    • 36949066642 scopus 로고
    • Structure of haemoglobin: A three-dimensional Fourier synthesis at 5.5-A. Resolution, obtained by x-ray analysis
    • Perutz MF, Rossmann MG, Cullis AF, Muirhead H, Will G, North AC. Structure of haemoglobin: a three-dimensional Fourier synthesis at 5.5-A. resolution, obtained by x-ray analysis. Nature. 1960;185(4711):416-422.
    • (1960) Nature , vol.185 , Issue.4711 , pp. 416-422
    • Perutz, M.F.1    Rossmann, M.G.2    Cullis, A.F.3    Muirhead, H.4    Will, G.5    North, A.C.6
  • 4
    • 0000420850 scopus 로고
    • A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin
    • Ingram VM. A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature. 1956; 178(4537):792-794.
    • (1956) Nature , vol.178 , Issue.4537 , pp. 792-794
    • Ingram, V.M.1
  • 5
    • 78249272956 scopus 로고    scopus 로고
    • Thalassemia: An overview of 50 years of clinical research
    • Sankaran VG, Nathan DG. Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am. 2010;24(6):1005-1020.
    • (2010) Hematol Oncol Clin North Am. , vol.24 , Issue.6 , pp. 1005-1020
    • Sankaran, V.G.1    Nathan, D.G.2
  • 6
    • 0022494269 scopus 로고
    • Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location
    • Royer-Pokora B, Kunkel LM, Monaco AP, et al. Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature. 1986;322(6074):32-38.
    • (1986) Nature , vol.322 , Issue.6074 , pp. 32-38
    • Royer-Pokora, B.1    Kunkel, L.M.2    Monaco, A.P.3
  • 7
    • 84869457261 scopus 로고    scopus 로고
    • The expanding scope of DNA sequencing
    • Shendure J, Lieberman Aiden E. The expanding scope of DNA sequencing. Nat Biotechnol. 2012; 30(11):1084-1094.
    • (2012) Nat Biotechnol. , vol.30 , Issue.11 , pp. 1084-1094
    • Shendure, J.1    Lieberman Aiden, E.2
  • 8
    • 84880557325 scopus 로고    scopus 로고
    • Genomic medicine: A decade of successes, challenges, and opportunities
    • McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5(189): 189sr184.
    • (2013) Sci Transl Med. , vol.5 , Issue.189 , pp. 189sr184
    • McCarthy, J.J.1    McLeod, H.L.2    Ginsburg, G.S.3
  • 9
    • 84861618864 scopus 로고    scopus 로고
    • Exome sequencing and the genetic basis of complex traits
    • Kiezun A, Garimella K, Do R, et al. Exome sequencing and the genetic basis of complex traits. Nat Genet. 2012;44(6):623-630.
    • (2012) Nat Genet. , vol.44 , Issue.6 , pp. 623-630
    • Kiezun, A.1    Garimella, K.2    Do, R.3
  • 11
    • 80052832184 scopus 로고    scopus 로고
    • Computational and statistical approaches to analyzing variants identified by exome sequencing
    • Stitziel NO, Kiezun A, Sunyaev S. Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol. 2011;12(9):227.
    • (2011) Genome Biol. , vol.12 , Issue.9 , pp. 227
    • Stitziel, N.O.1    Kiezun, A.2    Sunyaev, S.3
  • 13
    • 84875217898 scopus 로고    scopus 로고
    • Disease-targeted sequencing: A cornerstone in the clinic
    • Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013; 14(4):295-300.
    • (2013) Nat Rev Genet. , vol.14 , Issue.4 , pp. 295-300
    • Rehm, H.L.1
  • 14
    • 84868613789 scopus 로고    scopus 로고
    • Molecular pathogenesis and clinical management of Fanconi anemia
    • Kee Y, D'Andrea AD. Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest. 2012;122(11):3799-3806.
    • (2012) J Clin Invest. , vol.122 , Issue.11 , pp. 3799-3806
    • Kee, Y.1    D'Andrea, A.D.2
  • 15
    • 84872578210 scopus 로고    scopus 로고
    • Fanconi anaemia and the repair of Watson and Crick DNA crosslinks
    • Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature. 2013;493(7432):356-363.
    • (2013) Nature , vol.493 , Issue.7432 , pp. 356-363
    • Kottemann, M.C.1    Smogorzewska, A.2
  • 16
    • 84871455595 scopus 로고    scopus 로고
    • Genotyping of fanconi anemia patients by whole exome sequencing: Advantages and challenges
    • Knies K, Schuster B, Ameziane N, et al. Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. PLoS ONE. 2012;7(12):e52648.
    • (2012) PLoS One , vol.7 , Issue.12 , pp. e52648
    • Knies, K.1    Schuster, B.2    Ameziane, N.3
  • 17
    • 84871618131 scopus 로고    scopus 로고
    • Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP
    • Schuster B, Knies K, Stoepker C, et al. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat. 2013;34(1):93-96.
    • (2013) Hum Mutat. , vol.34 , Issue.1 , pp. 93-96
    • Schuster, B.1    Knies, K.2    Stoepker, C.3
  • 18
    • 84859484153 scopus 로고    scopus 로고
    • Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
    • Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012; 49(3):184-186.
    • (2012) J Med Genet. , vol.49 , Issue.3 , pp. 184-186
    • Shamseldin, H.E.1    Elfaki, M.2    Alkuraya, F.S.3
  • 19
    • 18744385813 scopus 로고    scopus 로고
    • Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    • Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002;10(11):773-781.
    • (2002) Eur J Hum Genet. , vol.10 , Issue.11 , pp. 773-781
    • Dobson-Stone, C.1    Danek, A.2    Rampoldi, L.3
  • 20
    • 0037413484 scopus 로고    scopus 로고
    • Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
    • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):33-40.
    • (2003) N Engl J Med. , vol.348 , Issue.1 , pp. 33-40
    • Hayflick, S.J.1    Westaway, S.K.2    Levinson, B.3
  • 21
    • 34250675175 scopus 로고    scopus 로고
    • The value of DNA analysis for antigens of the Kell and Kx blood group systems
    • Lee S. The value of DNA analysis for antigens of the Kell and Kx blood group systems. Transfusion. 2007;47(suppl 1):32S-39S.
    • (2007) Transfusion , vol.47 , pp. 32S-39S
    • Lee, S.1
  • 22
    • 84859383165 scopus 로고    scopus 로고
    • Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    • Walker RH, Schulz VP, Tikhonova IR, et al. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov Disord. 2012;27(4):539-543.
    • (2012) Mov Disord. , vol.27 , Issue.4 , pp. 539-543
    • Walker, R.H.1    Schulz, V.P.2    Tikhonova, I.R.3
  • 23
    • 80052840923 scopus 로고    scopus 로고
    • Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    • Cullinane AR, Vilboux T, O'Brien K, et al; NISC Comparative Sequencing Program. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol. 2011;131(10):2017-2025.
    • (2011) J Invest Dermatol. , vol.131 , Issue.10 , pp. 2017-2025
    • Cullinane, A.R.1    Vilboux, T.2    O'Brien, K.3
  • 24
    • 84869207490 scopus 로고    scopus 로고
    • Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    • Fernandez BA, Green JS, Bursey F, et al; FORGE Canada Consortium. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet. 2012;13:111.
    • (2012) BMC Med Genet. , vol.13 , pp. 111
    • Fernandez, B.A.1    Green, J.S.2    Bursey, F.3
  • 26
    • 78649549671 scopus 로고    scopus 로고
    • The ribosomal basis of Diamond-Blackfan anemia: Mutation and database update
    • Boria I, Garelli E, Gazda HT, et al. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum Mutat. 2010;31(12): 1269-1279.
    • (2010) Hum Mutat. , vol.31 , Issue.12 , pp. 1269-1279
    • Boria, I.1    Garelli, E.2    Gazda, H.T.3
  • 27
    • 84880653370 scopus 로고    scopus 로고
    • Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia
    • Gerrard G, Valgañón M, Foong HE, et al. Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br J Haematol. 2013;162(4):530-536.
    • (2013) Br J Haematol. , vol.162 , Issue.4 , pp. 530-536
    • Gerrard, G.1    Valgañón, M.2    Foong, H.E.3
  • 28
    • 84863554398 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
    • Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012; 122(7):2439-2443.
    • (2012) J Clin Invest. , vol.122 , Issue.7 , pp. 2439-2443
    • Sankaran, V.G.1    Ghazvinian, R.2    Do, R.3
  • 29
    • 84884190615 scopus 로고    scopus 로고
    • Analysis of disease-causing GATA1 mutations in murine gene complementation systems
    • Campbell AE, Wilkinson-White L, Mackay JP, Matthews JM, Blobel GA. Analysis of disease-causing GATA1 mutations in murine gene complementation systems. Blood. 2013; 121(26):5218-5227.
    • (2013) Blood , vol.121 , Issue.26 , pp. 5218-5227
    • Campbell, A.E.1    Wilkinson-White, L.2    Mackay, J.P.3    Matthews, J.M.4    Blobel, G.A.5
  • 30
    • 42649118442 scopus 로고    scopus 로고
    • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
    • Finberg KE, Heeney MM, Campagna DR, et al. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008; 40(5):569-571.
    • (2008) Nat Genet. , vol.40 , Issue.5 , pp. 569-571
    • Finberg, K.E.1    Heeney, M.M.2    Campagna, D.R.3
  • 31
    • 84873448594 scopus 로고    scopus 로고
    • Iron refractory iron deficiency anemia: Presentation with hyperferritinemia and response to oral iron therapy
    • Khuong-Quang DA, Schwartzentruber J, Westerman M, et al. Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics. 2013; 131(2):e620-e625.
    • (2013) Pediatrics , vol.131 , Issue.2 , pp. e620-e625
    • Khuong-Quang, D.A.1    Schwartzentruber, J.2    Westerman, M.3
  • 32
    • 84867946004 scopus 로고    scopus 로고
    • Next-generation sequencing: Impact of exome sequencing in characterizing Mendelian disorders
    • Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet. 2012;57(10):621-632.
    • (2012) J Hum Genet. , vol.57 , Issue.10 , pp. 621-632
    • Rabbani, B.1    Mahdieh, N.2    Hosomichi, K.3    Nakaoka, H.4    Inoue, I.5
  • 33
    • 84876290140 scopus 로고    scopus 로고
    • Disorders of red cell volume regulation
    • Gallagher PG. Disorders of red cell volume regulation. Curr Opin Hematol. 2013;20(3): 201-207.
    • (2013) Curr Opin Hematol. , vol.20 , Issue.3 , pp. 201-207
    • Gallagher, P.G.1
  • 34
    • 0032231446 scopus 로고    scopus 로고
    • Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): Mapping of locus to chromosome 16 (16q23-qter)
    • Carella M, Stewart G, Ajetunmobi JF, et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet. 1998;63(3):810-816.
    • (1998) Am J Hum Genet. , vol.63 , Issue.3 , pp. 810-816
    • Carella, M.1    Stewart, G.2    Ajetunmobi, J.F.3
  • 35
    • 84865279173 scopus 로고    scopus 로고
    • Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
    • Zarychanski R, Schulz VP, Houston BL, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood. 2012;120(9):1908-1915.
    • (2012) Blood , vol.120 , Issue.9 , pp. 1908-1915
    • Zarychanski, R.1    Schulz, V.P.2    Houston, B.L.3
  • 36
    • 84878689800 scopus 로고    scopus 로고
    • Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
    • Albuisson J, Murthy SE, Bandell M, et al. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun. 2013;4:1884.
    • (2013) Nat Commun. , vol.4 , pp. 1884
    • Albuisson, J.1    Murthy, S.E.2    Bandell, M.3
  • 37
    • 84878716780 scopus 로고    scopus 로고
    • Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
    • Andolfo I, Alper SL, De Franceschi L, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013;121(19):3925-3935.
    • (2013) Blood , vol.121 , Issue.19 , pp. 3925-3935
    • Andolfo, I.1    Alper, S.L.2    De Franceschi, L.3
  • 38
    • 84862777142 scopus 로고    scopus 로고
    • Piezo proteins are pore-forming subunits of mechanically activated channels
    • Coste B, Xiao B, Santos JS, et al. Piezo proteins are pore-forming subunits of mechanically activated channels. Nature. 2012;483(7388): 176-181.
    • (2012) Nature , vol.483 , Issue.7388 , pp. 176-181
    • Coste, B.1    Xiao, B.2    Santos, J.S.3
  • 39
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492(7429):369-375.
    • (2012) Nature , vol.492 , Issue.7429 , pp. 369-375
    • Van Der-Harst, P.1    Zhang, W.2    Mateo Leach, I.3
  • 40
    • 84882432632 scopus 로고    scopus 로고
    • The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy
    • Stepensky P, Saada A, Cowan M, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood. 2013; 121(25):5078-5087.
    • (2013) Blood , vol.121 , Issue.25 , pp. 5078-5087
    • Stepensky, P.1    Saada, A.2    Cowan, M.3
  • 41
    • 84879753994 scopus 로고    scopus 로고
    • A congenital neutrophil defect syndrome associated with mutations in VPS45
    • Vilboux T, Lev A, Malicdan MC, et al. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med. 2013;369(1): 54-65.
    • (2013) N Engl J Med. , vol.369 , Issue.1 , pp. 54-65
    • Vilboux, T.1    Lev, A.2    Malicdan, M.C.3
  • 42
    • 84859469338 scopus 로고    scopus 로고
    • Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
    • Walne AJ, Dokal A, Plagnol V, et al. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica. 2012; 97(4):524-528.
    • (2012) Haematologica , vol.97 , Issue.4 , pp. 524-528
    • Walne, A.J.1    Dokal, A.2    Plagnol, V.3
  • 43
    • 84860782889 scopus 로고    scopus 로고
    • Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
    • Kirwan M, Walne AJ, Plagnol V, et al. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet. 2012;90(5): 888-892.
    • (2012) Am J Hum Genet. , vol.90 , Issue.5 , pp. 888-892
    • Kirwan, M.1    Walne, A.J.2    Plagnol, V.3
  • 44
    • 84876410662 scopus 로고    scopus 로고
    • Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    • Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013; 92(3):448-453.
    • (2013) Am J Hum Genet. , vol.92 , Issue.3 , pp. 448-453
    • Walne, A.J.1    Vulliamy, T.2    Kirwan, M.3    Plagnol, V.4    Dokal, I.5
  • 45
    • 84876503523 scopus 로고    scopus 로고
    • Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    • Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet. 2013;132(4):473-480.
    • (2013) Hum Genet. , vol.132 , Issue.4 , pp. 473-480
    • Ballew, B.J.1    Yeager, M.2    Jacobs, K.3
  • 46
    • 79961074298 scopus 로고    scopus 로고
    • Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    • Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653-2655.
    • (2011) Blood , vol.118 , Issue.10 , pp. 2653-2655
    • Hsu, A.P.1    Sampaio, E.P.2    Khan, J.3
  • 47
    • 80053383273 scopus 로고    scopus 로고
    • Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    • Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10): 1012-1017.
    • (2011) Nat Genet. , vol.43 , Issue.10 , pp. 1012-1017
    • Hahn, C.N.1    Chong, C.E.2    Carmichael, C.L.3
  • 48
    • 80053385569 scopus 로고    scopus 로고
    • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    • Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011; 43(10):929-931.
    • (2011) Nat Genet. , vol.43 , Issue.10 , pp. 929-931
    • Ostergaard, P.1    Simpson, M.A.2    Connell, F.C.3
  • 49
    • 84863012056 scopus 로고    scopus 로고
    • Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
    • Kazenwadel J, Secker GA, Liu YJ, et al. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012; 119(5):1283-1291.
    • (2012) Blood , vol.119 , Issue.5 , pp. 1283-1291
    • Kazenwadel, J.1    Secker, G.A.2    Liu, Y.J.3
  • 50
    • 84880449489 scopus 로고    scopus 로고
    • GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
    • Hsu AP, Johnson KD, Falcone EL, et al. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood. 2013;121(19):3830-3837.
    • (2013) Blood , vol.121 , Issue.19 , pp. 3830-3837
    • Hsu, A.P.1    Johnson, K.D.2    Falcone, E.L.3
  • 51
    • 84873530537 scopus 로고    scopus 로고
    • High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
    • Pasquet M, Bellanné-Chantelot C, Tavitian S, et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013;121(5):822-829.
    • (2013) Blood , vol.121 , Issue.5 , pp. 822-829
    • Pasquet, M.1    Bellanné-Chantelot, C.2    Tavitian, S.3
  • 52
    • 79955518530 scopus 로고    scopus 로고
    • Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients
    • Bhatnagar P, Purvis S, Barron-Casella E, et al. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. J Hum Genet. 2011;56(4):316-323.
    • (2011) J Hum Genet. , vol.56 , Issue.4 , pp. 316-323
    • Bhatnagar, P.1    Purvis, S.2    Barron-Casella, E.3
  • 53
    • 84859983470 scopus 로고    scopus 로고
    • Rare variants in ischemic stroke: An exome pilot study
    • Cole JW, Stine OC, Liu X, et al. Rare variants in ischemic stroke: an exome pilot study. PLoS ONE. 2012;7(4):e35591.
    • (2012) PLoS One , vol.7 , Issue.4 , pp. e35591
    • Cole, J.W.1    Stine, O.C.2    Liu, X.3
  • 54
    • 78851470036 scopus 로고    scopus 로고
    • Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1
    • Dworkis DA, Klings ES, Solovieff N, et al. Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1. Am J Hematol. 2011;86(2):220-223.
    • (2011) Am J Hematol. , vol.86 , Issue.2 , pp. 220-223
    • Dworkis, D.A.1    Klings, E.S.2    Solovieff, N.3
  • 55
    • 84860458015 scopus 로고    scopus 로고
    • A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia
    • Milton JN, Sebastiani P, Solovieff N, et al. A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. PLoS ONE. 2012;7(4):e34741.
    • (2012) PLoS One , vol.7 , Issue.4 , pp. e34741
    • Milton, J.N.1    Sebastiani, P.2    Solovieff, N.3
  • 56
    • 74049109698 scopus 로고    scopus 로고
    • Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study
    • Sebastiani P, Solovieff N, Hartley SW, et al. Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol. 2010;85(1): 29-35.
    • (2010) Am J Hematol. , vol.85 , Issue.1 , pp. 29-35
    • Sebastiani, P.1    Solovieff, N.2    Hartley, S.W.3
  • 57
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    • Nelson MR, Wegmann D, Ehm MG, et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science. 2012;337(6090):100-104.
    • (2012) Science , vol.337 , Issue.6090 , pp. 100-104
    • Nelson, M.R.1    Wegmann, D.2    Ehm, M.G.3
  • 58
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, et al; Broad GO; Seattle GO; NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012; 337(6090):64-69.
    • (2012) Science , vol.337 , Issue.6090 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3
  • 59
    • 84864505483 scopus 로고    scopus 로고
    • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    • Coppola G, Chinnathambi S, Lee JJ, et al; Alzheimer's Disease Genetics Consortium. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012; 21(15):3500-3512.
    • (2012) Hum Mol Genet. , vol.21 , Issue.15 , pp. 3500-3512
    • Coppola, G.1    Chinnathambi, S.2    Lee, J.J.3
  • 60
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008; 40(5):592-599.
    • (2008) Nat Genet. , vol.40 , Issue.5 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3
  • 62
    • 34047177395 scopus 로고    scopus 로고
    • Populationbased resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    • Romeo S, Pennacchio LA, Fu Y, et al. Populationbased resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet. 2007;39(4):513-516.
    • (2007) Nat Genet. , vol.39 , Issue.4 , pp. 513-516
    • Romeo, S.1    Pennacchio, L.A.2    Fu, Y.3
  • 64
    • 23744481593 scopus 로고    scopus 로고
    • Genetic influences on peripheral blood cell counts: A study in baboons
    • Mahaney MC, Brugnara C, Lease LR, Platt OS. Genetic influences on peripheral blood cell counts: a study in baboons. Blood. 2005;106(4): 1210-1214.
    • (2005) Blood , vol.106 , Issue.4 , pp. 1210-1214
    • Mahaney, M.C.1    Brugnara, C.2    Lease, L.R.3    Platt, O.S.4
  • 65
    • 79960991930 scopus 로고    scopus 로고
    • Quantitative trait loci analysis for peripheral blood parameters in a (BALB/cW x C57BL/6J-Mpl (hlb219)/J) F(2) mice
    • Strzalkowska A, Unrug-Bielawska K, Bluszcz A, et al. Quantitative trait loci analysis for peripheral blood parameters in a (BALB/cW x C57BL/6J-Mpl (hlb219)/J) F(2) mice. Exp Anim. 2011;60(4): 405-416.
    • (2011) Exp Anim. , vol.60 , Issue.4 , pp. 405-416
    • Strzalkowska, A.1    Unrug-Bielawska, K.2    Bluszcz, A.3
  • 66
    • 70350644759 scopus 로고    scopus 로고
    • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    • Soranzo N, Spector TD, Mangino M, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet. 2009; 41(11):1182-1190.
    • (2009) Nat Genet. , vol.41 , Issue.11 , pp. 1182-1190
    • Soranzo, N.1    Spector, T.D.2    Mangino, M.3
  • 67
    • 72149102717 scopus 로고    scopus 로고
    • Sequence variants in three loci influence monocyte counts and erythrocyte volume
    • Ferreira MA, Hottenga JJ, Warrington NM, et al. Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet. 2009;85(5):745-749.
    • (2009) Am J Hum Genet. , vol.85 , Issue.5 , pp. 745-749
    • Ferreira, M.A.1    Hottenga, J.J.2    Warrington, N.M.3
  • 68
    • 78649469071 scopus 로고    scopus 로고
    • Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
    • Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010;42(12):1049-1051.
    • (2010) Nat Genet. , vol.42 , Issue.12 , pp. 1049-1051
    • Galarneau, G.1    Palmer, C.D.2    Sankaran, V.G.3    Orkin, S.H.4    Hirschhorn, J.N.5    Lettre, G.6
  • 69
    • 84868502906 scopus 로고    scopus 로고
    • Imputation of exome sequence variants into population-based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project
    • Auer PL, Johnsen JM, Johnson AD, et al. Imputation of exome sequence variants into population-based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet. 2012;91(5):794-808.
    • (2012) Am J Hum Genet. , vol.91 , Issue.5 , pp. 794-808
    • Auer, P.L.1    Johnsen, J.M.2    Johnson, A.D.3
  • 70
    • 84867555327 scopus 로고    scopus 로고
    • A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders
    • Cheung YH, Wang G, Leal SM, Wang S. A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genet Epidemiol. 2012;36(7): 675-685.
    • (2012) Genet Epidemiol. , vol.36 , Issue.7 , pp. 675-685
    • Cheung, Y.H.1    Wang, G.2    Leal, S.M.3    Wang, S.4
  • 71
    • 79251645624 scopus 로고    scopus 로고
    • Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
    • Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13(3):255-262.
    • (2011) Genet Med. , vol.13 , Issue.3 , pp. 255-262
    • Worthey, E.A.1    Mayer, A.N.2    Syverson, G.D.3
  • 72
    • 84858433310 scopus 로고    scopus 로고
    • Personal omics profiling reveals dynamic molecular and medical phenotypes
    • Chen R, Mias GI, Li-Pook-Than J, et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012;148(6):1293-1307.
    • (2012) Cell , vol.148 , Issue.6 , pp. 1293-1307
    • Chen, R.1    Mias, G.I.2    Li-Pook-Than, J.3
  • 73
    • 84862833585 scopus 로고    scopus 로고
    • Exome sequencing and unrelated findings in the context of complex disease research: Ethical and clinical implications
    • Lyon GJ, Jiang T, Van Wijk R, et al. Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med. 2011;12(62):41-55.
    • (2011) Discov Med. , vol.12 , Issue.62 , pp. 41-55
    • Lyon, G.J.1    Jiang, T.2    Van Wijk, R.3
  • 74
    • 84857855694 scopus 로고    scopus 로고
    • Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility
    • Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 2012;22(3):421-428.
    • (2012) Genome Res. , vol.22 , Issue.3 , pp. 421-428
    • Cassa, C.A.1    Savage, S.K.2    Taylor, P.L.3    Green, R.C.4    McGuire, A.L.5    Mandl, K.D.6
  • 75
    • 81955167410 scopus 로고    scopus 로고
    • Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
    • Tabor HK, Berkman BE, Hull SC, Bamshad MJ. Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A. 2011;155A(12):2916-2924.
    • (2011) Am J Med Genet A , vol.155 A , Issue.12 , pp. 2916-2924
    • Tabor, H.K.1    Berkman, B.E.2    Hull, S.C.3    Bamshad, M.J.4
  • 76
    • 84861926494 scopus 로고    scopus 로고
    • Incidental medical information in whole-exome sequencing
    • Solomon BD, Hadley DW, Pineda-Alvarez DE, et al. Incidental medical information in whole-exome sequencing. Pediatrics. 2012; 129(6):e1605-e1611.
    • (2012) Pediatrics , vol.129 , Issue.6 , pp. e1605-e1611
    • Solomon, B.D.1    Hadley, D.W.2    Pineda-Alvarez, D.E.3
  • 77
    • 84864649027 scopus 로고    scopus 로고
    • Points to consider in the clinical application of genomic sequencing
    • ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012;14(8):759-761.
    • (2012) Genet Med. , vol.14 , Issue.8 , pp. 759-761
  • 78
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565-574.
    • (2013) Genet Med. , vol.15 , Issue.7 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3
  • 79
    • 84880515119 scopus 로고    scopus 로고
    • Not-so-incidental findings: The ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
    • Allyse M, Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol. 2013;31(8):439-441.
    • (2013) Trends Biotechnol. , vol.31 , Issue.8 , pp. 439-441
    • Allyse, M.1    Michie, M.2
  • 80
    • 84878364688 scopus 로고    scopus 로고
    • Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
    • Wolf SM, Annas GJ, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science. 2013;340(6136):1049-1050.
    • (2013) Science , vol.340 , Issue.6136 , pp. 1049-1050
    • Wolf, S.M.1    Annas, G.J.2    Elias, S.3
  • 81
    • 84878354128 scopus 로고    scopus 로고
    • Pointcounterpoint. Ethics and genomic incidental findings
    • McGuire AL, Joffe S, Koenig BA, et al. Pointcounterpoint. Ethics and genomic incidental findings. Science. 2013;340(6136):1047-1048.
    • (2013) Science , vol.340 , Issue.6136 , pp. 1047-1048
    • McGuire, A.L.1    Joffe, S.2    Koenig, B.A.3
  • 82
    • 84880547053 scopus 로고    scopus 로고
    • Genomics in clinical practice: Lessons from the front lines
    • Jacob HJ, Abrams K, Bick DP, et al. Genomics in clinical practice: lessons from the front lines. Sci Transl Med. 2013;5(194):194cm5.
    • (2013) Sci Transl Med. , vol.5 , Issue.194 , pp. 194cm5
    • Jacob, H.J.1    Abrams, K.2    Bick, D.P.3
  • 83
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362(13):1181-1191.
    • (2010) N Engl J Med. , vol.362 , Issue.13 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 84
    • 84874662323 scopus 로고    scopus 로고
    • Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
    • Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45(3): 299-303.
    • (2013) Nat Genet. , vol.45 , Issue.3 , pp. 299-303
    • Kirby, A.1    Gnirke, A.2    Jaffe, D.B.3
  • 85
    • 84881618216 scopus 로고    scopus 로고
    • XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
    • pii:S0002-9297(13)00282-6
    • Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet. 2013;pii:S0002-9297(13)00282-6.
    • (2013) Am J Hum Genet.
    • Piton, A.1    Redin, C.2    Mandel, J.L.3
  • 86
    • 84884905922 scopus 로고    scopus 로고
    • Where genotype is not predictive of phenotype: Towards an understanding of the molecular basis of reduced penetrance in human inherited disease
    • [published online ahead of print July 3, 2013]
    • Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease [published online ahead of print July 3, 2013]. Hum Genet.
    • Hum Genet
    • Cooper, D.N.1    Krawczak, M.2    Polychronakos, C.3    Tyler-Smith, C.4    Kehrer-Sawatzki, H.5
  • 87
    • 84870900036 scopus 로고    scopus 로고
    • Deleterious- and diseaseallele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
    • Xue Y, Chen Y, Ayub Q, et al; 1000 Genomes Project Consortium. Deleterious- and diseaseallele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet. 2012;91(6):1022-1032.
    • (2012) Am J Hum Genet. , vol.91 , Issue.6 , pp. 1022-1032
    • Xue, Y.1    Chen, Y.2    Ayub, Q.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.