-
1
-
-
0037043658
-
Inflammatory bowel disease
-
Podolsky DK. Inflammatory bowel disease. N Engl J Med 2002;347:417-29.
-
(2002)
N Engl J Med
, vol.347
, pp. 417-429
-
-
Podolsky, D.K.1
-
2
-
-
84864258739
-
The age of gene discovery in very early onset inflammatory bowel disease
-
Muise AM, Snapper SB, Kugathasan S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology 2012;143:285-8.
-
(2012)
Gastroenterology
, vol.143
, pp. 285-288
-
-
Muise, A.M.1
Snapper, S.B.2
Kugathasan, S.3
-
3
-
-
78650095875
-
Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends
-
Benchimol EI, Fortinsky KJ, Gozdyra P, Van den Heuvel M, Van Limbergen J, Griffiths AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis 2011;17:423-39.
-
(2011)
Inflamm Bowel Dis
, vol.17
, pp. 423-439
-
-
Benchimol, E.I.1
Fortinsky, K.J.2
Gozdyra, P.3
Van den Heuvel, M.4
Van Limbergen, J.5
Griffiths, A.M.6
-
4
-
-
84887421132
-
Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease
-
Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut 2013;62:1795-805.
-
(2013)
Gut
, vol.62
, pp. 1795-1805
-
-
Uhlig, H.H.1
-
5
-
-
84875221954
-
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation
-
Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol 2013;131:825-30.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 825-830
-
-
Engelhardt, K.R.1
Shah, N.2
Faizura-Yeop, I.3
Kocacik Uygun, D.F.4
Frede, N.5
Muise, A.M.6
Shteyer, E.7
Filiz, S.8
Chee, R.9
Elawad, M.10
Hartmann, B.11
Arkwright, P.D.12
Dvorak, C.13
Klein, C.14
Puck, J.M.15
Grimbacher, B.16
Glocker, E.O.17
-
6
-
-
84873606153
-
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
-
Marsh RA, Rao K, Satwani P, Lehmberg K, Muller I, Li D, Kim MO, Fischer A, Latour S, Sedlacek P, Barlogis V, Hamamoto K, Kanegane H, Milanovich S, Margolis DA, Dimmock D, Casper J, Douglas DN, Amrolia PJ, Veys P, Kumar AR, Jordan MB, Bleesing JJ, Filipovich AH. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2013;121:877-83.
-
(2013)
Blood
, vol.121
, pp. 877-883
-
-
Marsh, R.A.1
Rao, K.2
Satwani, P.3
Lehmberg, K.4
Muller, I.5
Li, D.6
Kim, M.O.7
Fischer, A.8
Latour, S.9
Sedlacek, P.10
Barlogis, V.11
Hamamoto, K.12
Kanegane, H.13
Milanovich, S.14
Margolis, D.A.15
Dimmock, D.16
Casper, J.17
Douglas, D.N.18
Amrolia, P.J.19
Veys, P.20
Kumar, A.R.21
Jordan, M.B.22
Bleesing, J.J.23
Filipovich, A.H.24
more..
-
7
-
-
84867742980
-
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity
-
Barzaghi F, Passerini L, Bacchetta R. Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol 2012;3:211.
-
(2012)
Front Immunol
, vol.3
, pp. 211
-
-
Barzaghi, F.1
Passerini, L.2
Bacchetta, R.3
-
8
-
-
84896492362
-
Mutations in Tetratricopeptide repeat domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease
-
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger J, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM. Mutations in Tetratricopeptide repeat domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2014;146:1028-39.
-
(2014)
Gastroenterology
, vol.146
, pp. 1028-1039
-
-
Avitzur, Y.1
Guo, C.2
Mastropaolo, L.A.3
Bahrami, E.4
Chen, H.5
Zhao, Z.6
Elkadri, A.7
Dhillon, S.8
Murchie, R.9
Fattouh, R.10
Huynh, H.11
Walker, J.L.12
Wales, P.W.13
Cutz, E.14
Kakuta, Y.15
Dudley, J.16
Kammermeier, J.17
Powrie, F.18
Shah, N.19
Walz, C.20
Nathrath, M.21
Kotlarz, D.22
Puchaka, J.23
Krieger, J.24
Racek, T.25
Kirchner, T.26
Walters, T.D.27
Brumell, J.H.28
Griffiths, A.M.29
Rezaei, N.30
Rashtian, P.31
Najafi, M.32
Monajemzadeh, M.33
Pelsue, S.34
McGovern, D.P.35
Uhlig, H.H.36
Schadt, E.37
Klein, C.38
Snapper, S.B.39
Muise, A.M.40
more..
-
9
-
-
79251645624
-
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, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13:255-62.
-
(2011)
Genet Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
Basehore, M.J.11
Broeckel, U.12
Tomita-Mitchell, A.13
Arca, M.J.14
Casper, J.T.15
Margolis, D.A.16
Bick, D.P.17
Hessner, M.J.18
Routes, J.M.19
Verbsky, J.W.20
Jacob, H.J.21
Dimmock, D.P.22
more..
-
10
-
-
79955712974
-
Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification
-
Levine A, Griffiths A, Markowitz J, Wilson DC, Turner D, Russell RK, Fell J, Ruemmele FM, Walters T, Sherlock M, Dubinsky M, Hyams JS. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis 2011;17:1314-21.
-
(2011)
Inflamm Bowel Dis
, vol.17
, pp. 1314-1321
-
-
Levine, A.1
Griffiths, A.2
Markowitz, J.3
Wilson, D.C.4
Turner, D.5
Russell, R.K.6
Fell, J.7
Ruemmele, F.M.8
Walters, T.9
Sherlock, M.10
Dubinsky, M.11
Hyams, J.S.12
-
11
-
-
67650064594
-
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
-
Pruitt KD, Harrow J, Harte RA, Wallin C, Diekhans M, Maglott DR, Searle S, Farrell CM, Loveland JE, Ruef BJ, Hart E, Suner MM, Landrum MJ, Aken B, Ayling S, Baertsch R, Fernandez-Banet J, Cherry JL, Curwen V, Dicuccio M, Kellis M, Lee J, Lin MF, Schuster M, Shkeda A, Amid C, Brown G, Dukhanina O, Frankish A, Hart J, Maidak BL, Mudge J, Murphy MR, Murphy T, Rajan J, Rajput B, Riddick LD, Snow C, Steward C, Webb D, Weber JA, Wilming L, Wu W, Birney E, Haussler D, Hubbard T, Ostell J, Durbin R, Lipman D. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 2009;19:1316-23.
-
(2009)
Genome Res
, vol.19
, pp. 1316-1323
-
-
Pruitt, K.D.1
Harrow, J.2
Harte, R.A.3
Wallin, C.4
Diekhans, M.5
Maglott, D.R.6
Searle, S.7
Farrell, C.M.8
Loveland, J.E.9
Ruef, B.J.10
Hart, E.11
Suner, M.M.12
Landrum, M.J.13
Aken, B.14
Ayling, S.15
Baertsch, R.16
Fernandez-Banet, J.17
Cherry, J.L.18
Curwen, V.19
Dicuccio, M.20
Kellis, M.21
Lee, J.22
Lin, M.F.23
Schuster, M.24
Shkeda, A.25
Amid, C.26
Brown, G.27
Dukhanina, O.28
Frankish, A.29
Hart, J.30
Maidak, B.L.31
Mudge, J.32
Murphy, M.R.33
Murphy, T.34
Rajan, J.35
Rajput, B.36
Riddick, L.D.37
Snow, C.38
Steward, C.39
Webb, D.40
Weber, J.A.41
Wilming, L.42
Wu, W.43
Birney, E.44
Haussler, D.45
Hubbard, T.46
Ostell, J.47
Durbin, R.48
Lipman, D.49
more..
-
12
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-60.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
13
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43:491-8.
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
del Angel, G.8
Rivas, M.A.9
Hanna, M.10
McKenna, A.11
Fennell, T.J.12
Kernytsky, A.M.13
Sivachenko, A.Y.14
Cibulskis, K.15
Gabriel, S.B.16
Altshuler, D.17
Daly, M.J.18
-
14
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-14.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
15
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
16
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-6.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
17
-
-
77952855204
-
Mutations in TTC37 cause trichohepatoenteric syndrome ( phenotypic diarrhea of infancy)
-
98+e1-e2
-
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Mutations in TTC37 cause trichohepatoenteric syndrome ( phenotypic diarrhea of infancy). Gastroenterology 2010;138:2388-98, 98 e1-2.
-
(2010)
Gastroenterology
, vol.138
, pp. 2388-2398
-
-
Hartley, J.L.1
Zachos, N.C.2
Dawood, B.3
Donowitz, M.4
Forman, J.5
Pollitt, R.J.6
Morgan, N.V.7
Tee, L.8
Gissen, P.9
Kahr, W.H.10
Knisely, A.S.11
Watson, S.12
Chitayat, D.13
Booth, I.W.14
Protheroe, S.15
Murphy, S.16
de Vries, E.17
Kelly, D.A.18
Maher, E.R.19
-
18
-
-
0035167967
-
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
-
Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-1.
-
(2001)
Nat Genet
, vol.27
, pp. 20-21
-
-
Bennett, C.L.1
Christie, J.2
Ramsdell, F.3
Brunkow, M.E.4
Ferguson, P.J.5
Whitesell, L.6
Kelly, T.E.7
Saulsbury, F.T.8
Chance, P.F.9
Ochs, H.D.10
-
19
-
-
70949087383
-
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
-
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009;361:2033-45.
-
(2009)
N Engl J Med
, vol.361
, pp. 2033-2045
-
-
Glocker, E.O.1
Kotlarz, D.2
Boztug, K.3
Gertz, E.M.4
Schaffer, A.A.5
Noyan, F.6
Perro, M.7
Diestelhorst, J.8
Allroth, A.9
Murugan, D.10
Hatscher, N.11
Pfeifer, D.12
Sykora, K.W.13
Sauer, M.14
Kreipe, H.15
Lacher, M.16
Nustede, R.17
Woellner, C.18
Baumann, U.19
Salzer, U.20
Koletzko, S.21
Shah, N.22
Segal, A.W.23
Sauerbrey, A.24
Buderus, S.25
Snapper, S.B.26
Grimbacher, B.27
Klein, C.28
more..
-
20
-
-
77958003426
-
Infant colitis-it's in the genes
-
Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B. Infant colitis-it's in the genes. Lancet 2010;376:1272.
-
(2010)
Lancet
, vol.376
, pp. 1272
-
-
Glocker, E.O.1
Frede, N.2
Perro, M.3
Sebire, N.4
Elawad, M.5
Shah, N.6
Grimbacher, B.7
-
21
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-11.
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
Hardison, M.11
Person, R.12
Bekheirnia, M.R.13
Leduc, M.S.14
Kirby, A.15
Pham, P.16
Scull, J.17
Wang, M.18
Ding, Y.19
Plon, S.E.20
Lupski, J.R.21
Beaudet, A.L.22
Gibbs, R.A.23
Eng, C.M.24
more..
-
22
-
-
84895064425
-
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies
-
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol 2014;133:529-34.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 529-534
-
-
Nijman, I.J.1
van Montfrans, J.M.2
Hoogstraat, M.3
Boes, M.L.4
van de Corput, L.5
Renner, E.D.6
van Zon, P.7
van Lieshout, S.8
Elferink, M.G.9
van der Burg, M.10
Vermont, C.L.11
van der Zwaag, B.12
Janson, E.13
Cuppen, E.14
Ploos van Amstel, J.K.15
van Gijn, M.E.16
-
23
-
-
48749091347
-
Identification of EpCAM as the gene for congenital tufting enteropathy
-
Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 2008;135:429-37.
-
(2008)
Gastroenterology
, vol.135
, pp. 429-437
-
-
Sivagnanam, M.1
Mueller, J.L.2
Lee, H.3
Chen, Z.4
Nelson, S.F.5
Turner, D.6
Zlotkin, S.H.7
Pencharz, P.B.8
Ngan, B.Y.9
Libiger, O.10
Schork, N.J.11
Lavine, J.E.12
Taylor, S.13
Newbury, R.O.14
Kolodner, R.D.15
Hoffman, H.M.16
-
24
-
-
84905561912
-
Mucosal inflammation as a component of tufting enteropathy
-
Gerada J. Mucosal inflammation as a component of tufting enteropathy. Immunogastroenterology 2013;2:62-7.
-
(2013)
Immunogastroenterology
, vol.2
, pp. 62-67
-
-
Gerada, J.1
-
25
-
-
84859487192
-
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
-
Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet 2012;90:689-92.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 689-692
-
-
Fabre, A.1
Charroux, B.2
Martinez-Vinson, C.3
Roquelaure, B.4
Odul, E.5
Sayar, E.6
Smith, H.7
Colomb, V.8
Andre, N.9
Hugot, J.P.10
Goulet, O.11
Lacoste, C.12
Sarles, J.13
Royet, J.14
Levy, N.15
Badens, C.16
-
26
-
-
84925946652
-
Allogeneic Stem Cell Transplant Offers Cure for Intractable Childhood Enteropathy
-
Worth AJJ, Nademi Z, Kammermeier J, Bunn S, Chiesa R, Cant A, Hambleton S, Shah N, Slatter M, Rao K, Gennery A, Elawad M, Amrolia P, Veys P. Allogeneic Stem Cell Transplant Offers Cure for Intractable Childhood Enteropathy. Biol Blood Marrow Transplant 2014;20:S89-90.
-
(2014)
Biol Blood Marrow Transplant
, vol.20
, pp. S89-90
-
-
Worth, A.J.J.1
Nademi, Z.2
Kammermeier, J.3
Bunn, S.4
Chiesa, R.5
Cant, A.6
Hambleton, S.7
Shah, N.8
Slatter, M.9
Rao, K.10
Gennery, A.11
Elawad, M.12
Amrolia, P.13
Veys, P.14
-
27
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 2011;29:908-14.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.3
Karczewski, K.J.4
Chen, R.5
Euskirchen, G.6
Butte, A.J.7
Snyder, M.8
-
28
-
-
0035888596
-
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
-
Aradhya S, Bardaro T, Galgoczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 2001;10:2557-67.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2557-2567
-
-
Aradhya, S.1
Bardaro, T.2
Galgoczy, P.3
Yamagata, T.4
Esposito, T.5
Patlan, H.6
Ciccodicola, A.7
Munnich, A.8
Kenwrick, S.9
Platzer, M.10
D'Urso, M.11
Nelson, D.L.12
-
29
-
-
0036720555
-
Identification of a novel NCF-1 ( p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection
-
Heyworth PG, Noack D, Cross AR. Identification of a novel NCF-1 ( p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection. Blood 2002;100:1845-51.
-
(2002)
Blood
, vol.100
, pp. 1845-1851
-
-
Heyworth, P.G.1
Noack, D.2
Cross, A.R.3
-
30
-
-
33749434938
-
First exons and introns-a survey of GC content and gene structure in the human genome
-
Kalari KR, Casavant M, Bair TB, Keen HL, Comeron JM, Casavant TL, Scheetz TE. First exons and introns-a survey of GC content and gene structure in the human genome. In Silico Biol 2006;6:237-42.
-
(2006)
In Silico Biol
, vol.6
, pp. 237-242
-
-
Kalari, K.R.1
Casavant, M.2
Bair, T.B.3
Keen, H.L.4
Comeron, J.M.5
Casavant, T.L.6
Scheetz, T.E.7
-
31
-
-
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, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-74.
-
(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
Rehm, H.L.11
Watson, M.S.12
Williams, M.S.13
Biesecker, L.G.14
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