PubRank

J M Puck

Author PubWeight™ 100.49‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med 1999 5.82
2 Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995 5.64
3 Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1989 3.37
4 Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997 2.92
5 Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex. Nature 1986 2.76
6 Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 1999 2.74
7 X inactivation in females with X-linked disease. N Engl J Med 1998 2.67
8 Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999 2.63
9 Protection of infants from infection with influenza A virus by transplacentally acquired antibody. J Infect Dis 1980 2.50
10 Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996 2.29
11 An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med 1999 2.20
12 The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001 2.15
13 Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997 2.10
14 Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med 1996 1.86
15 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 1999 1.74
16 Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest 1987 1.67
17 Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 1990 1.62
18 Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A 1999 1.56
19 Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 2001 1.55
20 Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood 2001 1.42
21 Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 1998 1.41
22 Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A 1988 1.41
23 Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 1988 1.39
24 Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 1997 1.27
25 Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome. J Infect Dis 1985 1.21
26 Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000 1.21
27 TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol 2001 1.20
28 An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. Am J Hum Genet 2001 1.18
29 Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral Dis 2008 1.10
30 Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic Acids Res 1992 1.07
31 IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics 1994 1.06
32 Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen. J Immunol 1984 1.00
33 Gene localization and syntenic mapping by FISH in the dog. Cytogenet Cell Genet 1996 0.99
34 X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest 1990 0.98
35 IL2RGbase: a database of gamma c-chain defects causing human X-SCID. Immunol Today 1996 0.97
36 The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 1998 0.96
37 Primary immunodeficiency mutation databases. Adv Genet 2001 0.95
38 Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet 2001 0.95
39 Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 1991 0.94
40 Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy. Mol Ther 2000 0.94
41 The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. Genomics 1991 0.93
42 Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit. EMBO J 1996 0.92
43 Clonal analysis of solitary follicular nodules in the thyroid. Am J Pathol 1990 0.90
44 Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. Am J Med Genet 2001 0.90
45 Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features. Radiology 1999 0.89
46 X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. Clin Immunol Immunopathol 1990 0.88
47 Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Curr Opin Pediatr 1999 0.87
48 Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J Clin Immunol 1997 0.87
49 Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. J Immunol 1996 0.86
50 The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. N Engl J Med 1998 0.84
51 Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum Mol Genet 1995 0.84
52 Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest 1988 0.83
53 Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome. Clin Immunol 1999 0.83
54 Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 2000 0.83
55 The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis. Clin Rev Allergy Immunol 2001 0.82
56 Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med 2001 0.81
57 Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. Genomics 1994 0.81
58 Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J Biol Chem 1997 0.80
59 Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am J Hum Genet 1995 0.80
60 Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model. Mol Ther 2001 0.79
61 Primary immunodeficiency diseases. JAMA 1997 0.78
62 Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood 1996 0.78
63 Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet 1994 0.78
64 RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res 1989 0.78
65 Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission. Clin Infect Dis 1993 0.78
66 Twelve new polymorphic microsatellites on human chromosome 22. Genomics 1993 0.78
67 Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Exp Hematol 1997 0.77
68 Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. Gene Ther 1998 0.77
69 Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes. Blood 1998 0.77
70 Branhamella catarrhalis sepsis. Pediatr Infect Dis 1985 0.76
71 The timing of twinning: more insights from X inactivation. Am J Hum Genet 1998 0.75
72 The Canale-Smith syndrome. N Engl J Med 1997 0.75
73 A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies. Clin Immunol 2000 0.75
74 Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates. J Exp Med 1981 0.75
75 Seven chromosome 22 STR polymorphisms. Hum Mol Genet 1994 0.75
76 Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2. Cell Immunol 1983 0.75
77 Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants. Cell Immunol 1982 0.75
78 Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections. Trans Assoc Am Physicians 1984 0.75
79 Canine lymphocyte expression of retrovirally transferred human common gamma chain. Ann N Y Acad Sci 1999 0.75
80 Immunodeficiencies: injecting some safety into SCID gene therapy? Gene Ther 2006 0.75
81 Genetic testing and screening in pediatric populations. Nurs Clin North Am 2000 0.75
82 Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro. J Exp Med 1980 0.75