-
1
-
-
84900846113
-
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
-
Al-Herz, W., Bousfiha, A., Casanova, J. L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A. et al., Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front. Immunol. 2014. 5: 162.
-
(2014)
Front. Immunol.
, vol.5
, pp. 162
-
-
Al-Herz, W.1
Bousfiha, A.2
Casanova, J.L.3
Chatila, T.4
Conley, M.E.5
Cunningham-Rundles, C.6
Etzioni, A.7
-
2
-
-
0017367852
-
Nucleotide sequence of bacteriophage phi X174 DNA
-
Sanger, F., Air, G. M., Barrell, B. G., Brown, N. L., Coulson, A. R., Fiddes, C. A., Hutchison, C. A. et al., Nucleotide sequence of bacteriophage phi X174 DNA. Nature 1977. 265: 687-695.
-
(1977)
Nature
, vol.265
, pp. 687-695
-
-
Sanger, F.1
Air, G.M.2
Barrell, B.G.3
Brown, N.L.4
Coulson, A.R.5
Fiddes, C.A.6
Hutchison, C.A.7
-
3
-
-
0023047540
-
Fluorescence detection in automated DNA sequence analysis
-
Smith, L. M., Sanders, J. Z., Kaiser, R. J., Hughes, P., Dodd, C., Connell, C. R., Heiner, C. et al., Fluorescence detection in automated DNA sequence analysis. Nature 1986. 321: 674-679.
-
(1986)
Nature
, vol.321
, pp. 674-679
-
-
Smith, L.M.1
Sanders, J.Z.2
Kaiser, R.J.3
Hughes, P.4
Dodd, C.5
Connell, C.R.6
Heiner, C.7
-
4
-
-
0003544659
-
-
Puck, J. (Eds.), 3rd edition, Oxford University Press, New York
-
Ochs, H. D., Smith, C. I. E. and Puck, J. (Eds.), Primary Immunodeficiencies: A Molecular and Genetic Approach. 3rd edition, Oxford University Press, New York: 2013.
-
(2013)
Primary Immunodeficiencies: A Molecular and Genetic Approach
-
-
Ochs, H.D.1
Smith, C.I.E.2
-
5
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W. et al., The complete genome of an individual by massively parallel DNA sequencing. Nature 2008. 452: 872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
-
6
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T. et al., Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009. 461: 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
-
7
-
-
84871324529
-
Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies
-
Chou, J., Ohsumi, T. K. and Geha, R. S., Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr. Opin. Allergy Clin. Immunol. 2012. 12: 623-628.
-
(2012)
Curr. Opin. Allergy Clin. Immunol.
, vol.12
, pp. 623-628
-
-
Chou, J.1
Ohsumi, T.K.2
Geha, R.S.3
-
8
-
-
70350783953
-
Mutation analysis in primary immunodeficiency diseases: case studies
-
Hsu, A. P., Fleisher, T. A. and Niemela, J. E., Mutation analysis in primary immunodeficiency diseases: case studies. Curr. Opin. Allergy Clin. Immunol. 2009. 9: 517-524.
-
(2009)
Curr. Opin. Allergy Clin. Immunol.
, vol.9
, pp. 517-524
-
-
Hsu, A.P.1
Fleisher, T.A.2
Niemela, J.E.3
-
9
-
-
78049259067
-
Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders
-
Oliveira, J. B. and Fleisher, T. A., Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders. Curr. Allergy Asthma Rep. 2010. 10: 460-467.
-
(2010)
Curr. Allergy Asthma Rep.
, vol.10
, pp. 460-467
-
-
Oliveira, J.B.1
Fleisher, T.A.2
-
10
-
-
84884533101
-
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories
-
Weiss, M. M., Van der Zwaag, B., Jongbloed, J. D., Vogel, M. J., Bruggenwirth, H. T., Lekanne Deprez, R. H., Mook, O. et al., Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum. Mutat. 2013. 34: 1313-1321.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 1313-1321
-
-
Weiss, M.M.1
Van der Zwaag, B.2
Jongbloed, J.D.3
Vogel, M.J.4
Bruggenwirth, H.T.5
Lekanne Deprez, R.H.6
Mook, O.7
-
11
-
-
0029939504
-
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11
-
Gong, W., Emanuel, B. S., Collins, J., Kim, D. H., Wang, Z., Chen, F., Zhang, G. et al., A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet. 1996. 5: 789-800.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 789-800
-
-
Gong, W.1
Emanuel, B.S.2
Collins, J.3
Kim, D.H.4
Wang, Z.5
Chen, F.6
Zhang, G.7
-
12
-
-
70449140148
-
A fatal granulomatosus of childhood: the clinical study of a new syndrome
-
Berendes, H., Bridges, R. A. and Good, R. A., A fatal granulomatosus of childhood: the clinical study of a new syndrome. Minn. Med. 1957. 40: 309-312.
-
(1957)
Minn. Med.
, vol.40
, pp. 309-312
-
-
Berendes, H.1
Bridges, R.A.2
Good, R.A.3
-
13
-
-
0022460708
-
DNA linkage analysis of X chromosome-linked chronic granulomatous disease
-
Baehner, R. L., Kunkel, L. M., Monaco, A. P., Haines, J. L., Conneally, P. M., Palmer, C., Heerema, N. et al., DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc. Natl. Acad. Sci. USA 1986. 83: 3398-3401.
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 3398-3401
-
-
Baehner, R.L.1
Kunkel, L.M.2
Monaco, A.P.3
Haines, J.L.4
Conneally, P.M.5
Palmer, C.6
Heerema, N.7
-
14
-
-
0022494269
-
Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location
-
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S. et al., Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 1986. 322: 32-38.
-
(1986)
Nature
, vol.322
, pp. 32-38
-
-
Royer-Pokora, B.1
Kunkel, L.M.2
Monaco, A.P.3
Goff, S.C.4
Newburger, P.E.5
Baehner, R.L.6
Cole, F.S.7
-
15
-
-
0023251352
-
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
-
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J. and Parkos, C. A., The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 1987. 327: 717-720.
-
(1987)
Nature
, vol.327
, pp. 717-720
-
-
Dinauer, M.C.1
Orkin, S.H.2
Brown, R.3
Jesaitis, A.J.4
Parkos, C.A.5
-
16
-
-
0023483148
-
Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000
-
Parkos, C. A., Allen, R. A., Cochrane, C. G. and Jesaitis, A. J., Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91, 000 and 22, 000. J. Clin. Invest. 1987. 80: 732-742.
-
(1987)
J. Clin. Invest.
, vol.80
, pp. 732-742
-
-
Parkos, C.A.1
Allen, R.A.2
Cochrane, C.G.3
Jesaitis, A.J.4
-
17
-
-
84924635402
-
Agammaglobulinemia & alymphocytosis with atrophy of lymphatic tissue
-
Hitzig, W. H., Biro, Z., Bosch, H. and Huser, H. J., Agammaglobulinemia & alymphocytosis with atrophy of lymphatic tissue. Helv Paediatr Acta 1958. 13: 551-585.
-
(1958)
Helv Paediatr Acta
, vol.13
, pp. 551-585
-
-
Hitzig, W.H.1
Biro, Z.2
Bosch, H.3
Huser, H.J.4
-
18
-
-
0006418886
-
Familial lymphopenia with agammaglobulinemia & severe moniliasis: the essential lymphocytophthisis as a special form of early childhood agammaglobulinemia
-
Tobler, R. and Cottier, H., Familial lymphopenia with agammaglobulinemia & severe moniliasis: the essential lymphocytophthisis as a special form of early childhood agammaglobulinemia. Helv. Paediatr. Acta 1958. 13: 313-338.
-
(1958)
Helv. Paediatr. Acta
, vol.13
, pp. 313-338
-
-
Tobler, R.1
Cottier, H.2
-
19
-
-
0023442485
-
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13
-
de Saint Basile, G., Arveiler, B., Oberle, I., Malcolm, S., Levinsky, R. J., Lau, Y. L., Hofker, M. et al., Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proc. Natl. Acad. Sci. USA 1987. 84: 7576-7579.
-
(1987)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 7576-7579
-
-
de Saint Basile, G.1
Arveiler, B.2
Oberle, I.3
Malcolm, S.4
Levinsky, R.J.5
Lau, Y.L.6
Hofker, M.7
-
20
-
-
0027320217
-
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
-
Puck, J. M., Deschenes, S. M., Porter, J. C., Dutra, A. S., Brown, C. J., Willard, H. F. and Henthorn, P. S., The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 1993. 2: 1099-1104.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1099-1104
-
-
Puck, J.M.1
Deschenes, S.M.2
Porter, J.C.3
Dutra, A.S.4
Brown, C.J.5
Willard, H.F.6
Henthorn, P.S.7
-
21
-
-
0027403374
-
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
-
Noguchi, M., Yi, H., Rosenblatt, H. M., Filipovich, A. H., Adelstein, S., Modi, W. S., McBride, O. W. et al., Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993. 73: 147-157.
-
(1993)
Cell
, vol.73
, pp. 147-157
-
-
Noguchi, M.1
Yi, H.2
Rosenblatt, H.M.3
Filipovich, A.H.4
Adelstein, S.5
Modi, W.S.6
McBride, O.W.7
-
22
-
-
58149142930
-
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
-
Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann, K., Rump, E. M., Barth, T. F. et al., Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat. Genet. 2009. 41: 101-105.
-
(2009)
Nat. Genet.
, vol.41
, pp. 101-105
-
-
Pannicke, U.1
Honig, M.2
Hess, I.3
Friesen, C.4
Holzmann, K.5
Rump, E.M.6
Barth, T.F.7
-
23
-
-
58149144707
-
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
-
Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat, F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C. et al., Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat. Genet. 2009. 41: 106-111.
-
(2009)
Nat. Genet.
, vol.41
, pp. 106-111
-
-
Lagresle-Peyrou, C.1
Six, E.M.2
Picard, C.3
Rieux-Laucat, F.4
Michel, V.5
Ditadi, A.6
Demerens-de Chappedelaine, C.7
-
24
-
-
0035174725
-
MHC class II deficiency: a disease of gene regulation
-
Villard, J., Masternak, K., Lisowska-Grospierre, B., Fischer, A. and Reith, W., MHC class II deficiency: a disease of gene regulation. Medicine (Baltimore) 2001. 80: 405-418.
-
(2001)
Medicine (Baltimore)
, vol.80
, pp. 405-418
-
-
Villard, J.1
Masternak, K.2
Lisowska-Grospierre, B.3
Fischer, A.4
Reith, W.5
-
25
-
-
0027490172
-
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
-
Steimle, V., Otten, L. A., Zufferey, M. and Mach, B., Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 1993. 75: 135-146.
-
(1993)
Cell
, vol.75
, pp. 135-146
-
-
Steimle, V.1
Otten, L.A.2
Zufferey, M.3
Mach, B.4
-
26
-
-
0004419978
-
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
-
Masternak, K., Barras, E., Zufferey, M., Conrad, B., Corthals, G., Aebersold, R., Sanchez, J. C. et al., A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat. Genet. 1998. 20: 273-277.
-
(1998)
Nat. Genet.
, vol.20
, pp. 273-277
-
-
Masternak, K.1
Barras, E.2
Zufferey, M.3
Conrad, B.4
Corthals, G.5
Aebersold, R.6
Sanchez, J.C.7
-
27
-
-
11944266638
-
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
-
Steimle, V., Durand, B., Barras, E., Zufferey, M., Hadam, M. R., Mach, B. and Reith, W., A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 1995. 9: 1021-1032.
-
(1995)
Genes Dev.
, vol.9
, pp. 1021-1032
-
-
Steimle, V.1
Durand, B.2
Barras, E.3
Zufferey, M.4
Hadam, M.R.5
Mach, B.6
Reith, W.7
-
28
-
-
0031055891
-
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency
-
Durand, B., Sperisen, P., Emery, P., Barras, E., Zufferey, M., Mach, B. and Reith, W., RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 1997. 16: 1045-1055.
-
(1997)
EMBO J.
, vol.16
, pp. 1045-1055
-
-
Durand, B.1
Sperisen, P.2
Emery, P.3
Barras, E.4
Zufferey, M.5
Mach, B.6
Reith, W.7
-
29
-
-
0027441332
-
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
-
Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L. et al., The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993. 361: 226-233.
-
(1993)
Nature
, vol.361
, pp. 226-233
-
-
Vetrie, D.1
Vorechovsky, I.2
Sideras, P.3
Holland, J.4
Davies, A.5
Flinter, F.6
Hammarstrom, L.7
-
30
-
-
0027399081
-
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
-
Tsukada, S., Saffran, D. C., Rawlings, D. J., Parolini, O., Allen, R. C., Klisak, I., Sparkes, R. S. et al., Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993. 72: 279-290.
-
(1993)
Cell
, vol.72
, pp. 279-290
-
-
Tsukada, S.1
Saffran, D.C.2
Rawlings, D.J.3
Parolini, O.4
Allen, R.C.5
Klisak, I.6
Sparkes, R.S.7
-
31
-
-
0027305921
-
Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice
-
Rawlings, D. J., Saffran, D. C., Tsukada, S., Largaespada, D. A., Grimaldi, J. C., Cohen, L., Mohr, R. N. et al., Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 1993. 261: 358-361.
-
(1993)
Science
, vol.261
, pp. 358-361
-
-
Rawlings, D.J.1
Saffran, D.C.2
Tsukada, S.3
Largaespada, D.A.4
Grimaldi, J.C.5
Cohen, L.6
Mohr, R.N.7
-
32
-
-
0000788042
-
Familiärer, angeborener Morbus Werlhofii?
-
Wiskott, A., Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd 1937. 68: 212-216.
-
(1937)
Monatsschr Kinderheilkd
, vol.68
, pp. 212-216
-
-
Wiskott, A.1
-
33
-
-
0025847314
-
Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3
-
Kwan, S. P., Lehner, T., Hagemann, T., Lu, B., Blaese, M., Ochs, H., Wedgwood, R. et al., Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3. Genomics 1991. 10: 29-33.
-
(1991)
Genomics
, vol.10
, pp. 29-33
-
-
Kwan, S.P.1
Lehner, T.2
Hagemann, T.3
Lu, B.4
Blaese, M.5
Ochs, H.6
Wedgwood, R.7
-
34
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
-
Derry, J. M., Ochs, H. D. and Francke, U., Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994. 78: 635-644.
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.1
Ochs, H.D.2
Francke, U.3
-
35
-
-
0024846088
-
The V(D)J recombination activating gene, RAG-1
-
Schatz, D. G., Oettinger, M. A. and Baltimore, D., The V(D)J recombination activating gene, RAG-1. Cell 1989. 59: 1035-1048.
-
(1989)
Cell
, vol.59
, pp. 1035-1048
-
-
Schatz, D.G.1
Oettinger, M.A.2
Baltimore, D.3
-
36
-
-
0030009253
-
The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination
-
van Gent, D. C., Ramsden, D. A. and Gellert, M., The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination. Cell 1996. 85: 107-113.
-
(1996)
Cell
, vol.85
, pp. 107-113
-
-
van Gent, D.C.1
Ramsden, D.A.2
Gellert, M.3
-
37
-
-
0027770854
-
Expression and V(D)J recombination activity of mutated RAG-1 proteins
-
Sadofsky, M. J., Hesse, J. E., McBlane, J. F. and Gellert, M., Expression and V(D)J recombination activity of mutated RAG-1 proteins. Nucleic Acids Res. 1993. 21: 5644-5650.
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 5644-5650
-
-
Sadofsky, M.J.1
Hesse, J.E.2
McBlane, J.F.3
Gellert, M.4
-
38
-
-
10144253125
-
RAG mutations in human B cell-negative SCID
-
Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, Z., Lindner, D., Friedrich, W. et al., RAG mutations in human B cell-negative SCID. Science 1996. 274: 97-99.
-
(1996)
Science
, vol.274
, pp. 97-99
-
-
Schwarz, K.1
Gauss, G.H.2
Ludwig, L.3
Pannicke, U.4
Li, Z.5
Lindner, D.6
Friedrich, W.7
-
39
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
Jiang, Y. H., Yuen, R. K., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J. et al., Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 2013. 93: 249-263.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 249-263
-
-
Jiang, Y.H.1
Yuen, R.K.2
Jin, X.3
Wang, M.4
Chen, N.5
Wu, X.6
Ju, J.7
-
40
-
-
84899487990
-
A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges
-
Weiss, G. J., Liang, W. S., Demeure, M. J., Kiefer, J. A., Hostetter, G., Izatt, T., Sinari, S. et al., A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges. PLoS One 2013. 8: e76438.
-
(2013)
PLoS One
, vol.8
, pp. e76438
-
-
Weiss, G.J.1
Liang, W.S.2
Demeure, M.J.3
Kiefer, J.A.4
Hostetter, G.5
Izatt, T.6
Sinari, S.7
-
41
-
-
84888380730
-
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation
-
Guo, G., Sun, X., Chen, C., Wu, S., Huang, P., Li, Z., Dean, M. et al., Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat. Genet. 2013. 45: 1459-1463.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1459-1463
-
-
Guo, G.1
Sun, X.2
Chen, C.3
Wu, S.4
Huang, P.5
Li, Z.6
Dean, M.7
-
42
-
-
78149325696
-
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
-
Byun, M., Abhyankar, A., Lelarge, V., Plancoulaine, S., Palanduz, A., Telhan, L., Boisson, B. et al., Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J. Exp. Med. 2010. 207: 2307-2312.
-
(2010)
J. Exp. Med.
, vol.207
, pp. 2307-2312
-
-
Byun, M.1
Abhyankar, A.2
Lelarge, V.3
Plancoulaine, S.4
Palanduz, A.5
Telhan, L.6
Boisson, B.7
-
43
-
-
65649088588
-
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
-
Picard, C., McCarl, C. A., Papolos, A., Khalil, S., Luthy, K., Hivroz, C., LeDeist, F. et al., STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N. Engl. J. Med. 2009. 360: 1971-1980.
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 1971-1980
-
-
Picard, C.1
McCarl, C.A.2
Papolos, A.3
Khalil, S.4
Luthy, K.5
Hivroz, C.6
LeDeist, F.7
-
44
-
-
80052089944
-
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
-
Dickinson, R. E., Griffin, H., Bigley, V., Reynard, L. N., Hussain, R., Haniffa, M., Lakey, J. H. et al., Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011. 118: 2656-2658.
-
(2011)
Blood
, vol.118
, pp. 2656-2658
-
-
Dickinson, R.E.1
Griffin, H.2
Bigley, V.3
Reynard, L.N.4
Hussain, R.5
Haniffa, M.6
Lakey, J.H.7
-
45
-
-
79961074298
-
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
-
Hsu, A. P., Sampaio, E. P., Khan, J., Calvo, K. R., Lemieux, J. E., Patel, S. Y., Frucht, D. M. et al., Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011. 118: 2653-2655.
-
(2011)
Blood
, vol.118
, pp. 2653-2655
-
-
Hsu, A.P.1
Sampaio, E.P.2
Khan, J.3
Calvo, K.R.4
Lemieux, J.E.5
Patel, S.Y.6
Frucht, D.M.7
-
46
-
-
80054928104
-
Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency
-
Li, F. Y., Lenardo, M. J. and Chaigne-Delalande, B., Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency. Magnes. Res. 2011. 24: S109-114.
-
(2011)
Magnes. Res.
, vol.24
, pp. S109-S114
-
-
Li, F.Y.1
Lenardo, M.J.2
Chaigne-Delalande, B.3
-
47
-
-
79960915373
-
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency
-
Li, F. Y., Chaigne-Delalande, B., Kanellopoulou, C., Davis, J. C., Matthews, H. F., Douek, D. C., Cohen, J. I. et al., Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature 2011. 475: 471-476.
-
(2011)
Nature
, vol.475
, pp. 471-476
-
-
Li, F.Y.1
Chaigne-Delalande, B.2
Kanellopoulou, C.3
Davis, J.C.4
Matthews, H.F.5
Douek, D.C.6
Cohen, J.I.7
-
48
-
-
84899050112
-
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus
-
Li, F. Y., Chaigne-Delalande, B., Su, H., Uzel, G., Matthews, H. and Lenardo, M. J., XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. Blood 2014. 123: 2148-2152.
-
(2014)
Blood
, vol.123
, pp. 2148-2152
-
-
Li, F.Y.1
Chaigne-Delalande, B.2
Su, H.3
Uzel, G.4
Matthews, H.5
Lenardo, M.J.6
-
49
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
Liu, L., Okada, S., Kong, X. F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J. et al., Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J. Exp. Med. 2011. 208: 1635-1648.
-
(2011)
J. Exp. Med.
, vol.208
, pp. 1635-1648
-
-
Liu, L.1
Okada, S.2
Kong, X.F.3
Kreins, A.Y.4
Cypowyj, S.5
Abhyankar, A.6
Toubiana, J.7
-
50
-
-
79960094057
-
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
-
van de Veerdonk, F. L., Plantinga, T. S., Hoischen, A., Smeekens, S. P., Joosten, L. A., Gilissen, C., Arts, P. et al., STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N. Engl. J. Med. 2011. 365: 54-61.
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 54-61
-
-
van de Veerdonk, F.L.1
Plantinga, T.S.2
Hoischen, A.3
Smeekens, S.P.4
Joosten, L.A.5
Gilissen, C.6
Arts, P.7
-
51
-
-
84860359332
-
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K
-
Conley, M. E., Dobbs, A. K., Quintana, A. M., Bosompem, A., Wang, Y. D., Coustan-Smith, E., Smith, A. M. et al., Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J. Exp. Med. 2012. 209: 463-470.
-
(2012)
J. Exp. Med.
, vol.209
, pp. 463-470
-
-
Conley, M.E.1
Dobbs, A.K.2
Quintana, A.M.3
Bosompem, A.4
Wang, Y.D.5
Coustan-Smith, E.6
Smith, A.M.7
-
52
-
-
84878013555
-
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
-
Bolze, A., Mahlaoui, N., Byun, M., Turner, B., Trede, N., Ellis, S. R., Abhyankar, A. et al., Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 2013. 340: 976-978.
-
(2013)
Science
, vol.340
, pp. 976-978
-
-
Bolze, A.1
Mahlaoui, N.2
Byun, M.3
Turner, B.4
Trede, N.5
Ellis, S.R.6
Abhyankar, A.7
-
53
-
-
84887824378
-
Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage
-
Angulo, I., Vadas, O., Garcon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H. et al., Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science 2013. 342: 866-871.
-
(2013)
Science
, vol.342
, pp. 866-871
-
-
Angulo, I.1
Vadas, O.2
Garcon, F.3
Banham-Hall, E.4
Plagnol, V.5
Leahy, T.R.6
Baxendale, H.7
-
54
-
-
84891030577
-
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency
-
Lucas, C. L., Kuehn, H. S., Zhao, F., Niemela, J. E., Deenick, E. K., Palendira, U., Avery, D. T. et al., Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat. Immunol. 2014. 15: 88-97.
-
(2014)
Nat. Immunol.
, vol.15
, pp. 88-97
-
-
Lucas, C.L.1
Kuehn, H.S.2
Zhao, F.3
Niemela, J.E.4
Deenick, E.K.5
Palendira, U.6
Avery, D.T.7
-
55
-
-
84860390352
-
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis
-
Marrakchi, S., Guigue, P., Renshaw, B. R., Puel, A., Pei, X. Y., Fraitag, S., Zribi, J. et al., Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N. Engl. J. Med. 2011. 365: 620-628.
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 620-628
-
-
Marrakchi, S.1
Guigue, P.2
Renshaw, B.R.3
Puel, A.4
Pei, X.Y.5
Fraitag, S.6
Zribi, J.7
-
56
-
-
80053397654
-
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
-
Kitamura, A., Maekawa, Y., Uehara, H., Izumi, K., Kawachi, I., Nishizawa, M., Toyoshima, Y. et al., A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J. Clin. Invest. 2011. 121: 4150-4160.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 4150-4160
-
-
Kitamura, A.1
Maekawa, Y.2
Uehara, H.3
Izumi, K.4
Kawachi, I.5
Nishizawa, M.6
Toyoshima, Y.7
-
57
-
-
84863030888
-
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
-
Ombrello, M. J., Remmers, E. F., Sun, G., Freeman, A. F., Datta, S., Torabi-Parizi, P., Subramanian, N. et al., Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N. Engl. J. Med. 2012. 366: 330-338.
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 330-338
-
-
Ombrello, M.J.1
Remmers, E.F.2
Sun, G.3
Freeman, A.F.4
Datta, S.5
Torabi-Parizi, P.6
Subramanian, N.7
-
58
-
-
84864461405
-
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
-
e482.
-
Alangari, A., Alsultan, A., Adly, N., Massaad, M. J., Kiani, I. S., Aljebreen, A., Raddaoui, E. et al., LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J. Allergy Clin. Immunol. 2012. 130: 481-488, e482.
-
(2012)
J. Allergy Clin. Immunol.
, vol.130
, pp. 481-488
-
-
Alangari, A.1
Alsultan, A.2
Adly, N.3
Massaad, M.J.4
Kiani, I.S.5
Aljebreen, A.6
Raddaoui, E.7
-
59
-
-
84862132898
-
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
-
Lopez-Herrera, G., Tampella, G., Pan-Hammarstrom, Q., Herholz, P., Trujillo-Vargas, C. M., Phadwal, K., Simon, A. K. et al., Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am. J. Hum. Genet. 2012. 90: 986-1001.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 986-1001
-
-
Lopez-Herrera, G.1
Tampella, G.2
Pan-Hammarstrom, Q.3
Herholz, P.4
Trujillo-Vargas, C.M.5
Phadwal, K.6
Simon, A.K.7
-
60
-
-
84866748115
-
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency
-
Bogunovic, D., Byun, M., Durfee, L. A., Abhyankar, A., Sanal, O., Mansouri, D., Salem, S. et al., Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 2012. 337: 1684-1688.
-
(2012)
Science
, vol.337
, pp. 1684-1688
-
-
Bogunovic, D.1
Byun, M.2
Durfee, L.A.3
Abhyankar, A.4
Sanal, O.5
Mansouri, D.6
Salem, S.7
-
61
-
-
84869429707
-
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
-
Boisson, B., Laplantine, E., Prando, C., Giliani, S., Israelsson, E., Xu, Z., Abhyankar, A. et al., Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat. Immunol. 2012. 13: 1178-1186.
-
(2012)
Nat. Immunol.
, vol.13
, pp. 1178-1186
-
-
Boisson, B.1
Laplantine, E.2
Prando, C.3
Giliani, S.4
Israelsson, E.5
Xu, Z.6
Abhyankar, A.7
-
62
-
-
72849144434
-
Sequencing technologies-the next generation
-
Metzker, M. L., Sequencing technologies-the next generation. Nat. Rev. Genet. 2010. 11: 31-46.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
63
-
-
84895064425
-
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
-
Nijman, I. J., van Montfrans, J. M., Hoogstraat, M., Boes, M. L., van de Corput, L., Renner, E. D., van Zon, P. et al., Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies. J. Allergy Clin. Immunol. 2013. 133: 529-534.
-
(2013)
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
-
64
-
-
84856879501
-
Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies
-
Ghosh, S., Krux, F., Binder, V., Gombert, M., Niehues, T., Feyen, O., Laws, H. J. et al., Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies. Scand. J. Immunol. 2012. 75: 350-354.
-
(2012)
Scand. J. Immunol.
, vol.75
, pp. 350-354
-
-
Ghosh, S.1
Krux, F.2
Binder, V.3
Gombert, M.4
Niehues, T.5
Feyen, O.6
Laws, H.J.7
-
65
-
-
80052595393
-
What can exome sequencing do for you?
-
Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A. and Jabado, N., What can exome sequencing do for you? J. Med. Genet. 2011. 48: 580-589.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 580-589
-
-
Majewski, J.1
Schwartzentruber, J.2
Lalonde, E.3
Montpetit, A.4
Jabado, N.5
-
66
-
-
77956798475
-
Next-generation sequencing techniques for eukaryotic microorganisms: sequencing-based solutions to biological problems
-
Nowrousian, M., Next-generation sequencing techniques for eukaryotic microorganisms: sequencing-based solutions to biological problems. Eukaryot. Cell 2010. 9: 1300-1310.
-
(2010)
Eukaryot. Cell
, vol.9
, pp. 1300-1310
-
-
Nowrousian, M.1
-
67
-
-
80955152021
-
Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
-
Harakalova, M., Mokry, M., Hrdlickova, B., Renkens, I., Duran, K., van Roekel, H., Lansu, N. et al., Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing. Nat. Protoc. 2011. 6: 1870-1886.
-
(2011)
Nat. Protoc.
, vol.6
, pp. 1870-1886
-
-
Harakalova, M.1
Mokry, M.2
Hrdlickova, B.3
Renkens, I.4
Duran, K.5
van Roekel, H.6
Lansu, N.7
-
68
-
-
77956275991
-
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
-
Wang, H. Y., Gopalan, V., Aksentijevich, I., Yeager, M., Ma, C. A., Mohamoud, Y. A., Quinones, M. et al., A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. Hum. Mutat. 2010. 31: 1080-1088.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 1080-1088
-
-
Wang, H.Y.1
Gopalan, V.2
Aksentijevich, I.3
Yeager, M.4
Ma, C.A.5
Mohamoud, Y.A.6
Quinones, M.7
-
69
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S. and Ng, P. C., Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009. 4: 1073-1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
70
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S. et al., A method and server for predicting damaging missense mutations. Nat. Methods 2010. 7: 248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
-
71
-
-
84862683078
-
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions
-
Bamshad, M. J., Shendure, J. A., Valle, D., Hamosh, A., Lupski, J. R., Gibbs, R. A., Boerwinkle, E. et al., The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am. J. Med. Genet. A 2012. 158A: 1523-1525.
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 1523-1525
-
-
Bamshad, M.J.1
Shendure, J.A.2
Valle, D.3
Hamosh, A.4
Lupski, J.R.5
Gibbs, R.A.6
Boerwinkle, E.7
-
72
-
-
84901466916
-
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia
-
Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A. et al., Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum. Mol. Genet. 2014. 23: 368-382.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 368-382
-
-
Rogler, L.E.1
Kosmyna, B.2
Moskowitz, D.3
Bebawee, R.4
Rahimzadeh, J.5
Kutchko, K.6
Laederach, A.7
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