PubRank

Jennifer M Puck

Author PubWeight™ 98.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007 8.99
2 Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 2004 5.59
3 Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009 3.13
4 Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2011 3.05
5 Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007 2.98
6 Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood 2010 2.77
7 Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005 2.45
8 NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A 2007 2.25
9 Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 2002 2.11
10 Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004 2.01
11 Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005 1.99
12 The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol 2008 1.97
13 Hyper-IgE syndromes. Immunol Rev 2005 1.92
14 Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 2014 1.88
15 Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014 1.81
16 Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 2013 1.66
17 Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol 2011 1.64
18 Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol 2007 1.61
19 Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol 2008 1.46
20 The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol 2013 1.40
21 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010 1.36
22 Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med 2010 1.35
23 Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol 2012 1.30
24 Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet 2007 1.28
25 IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Blood 2011 1.28
26 A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 2013 1.27
27 Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol 2005 1.25
28 Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol 2008 1.25
29 Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 2009 1.23
30 An update on the hyper-IgE syndromes. Arthritis Res Ther 2012 1.23
31 Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood 2007 1.22
32 The hyper IgE syndrome and mutations in TYK2. Immunity 2007 1.21
33 Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol 2010 1.12
34 Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med 2008 1.08
35 A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab 2011 1.06
36 Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med 2008 1.06
37 Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics 2006 1.04
38 Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 2007 1.02
39 Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes 2005 0.99
40 Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 2006 0.97
41 Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol 2006 0.96
42 Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clin Immunol 2004 0.93
43 Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol 2013 0.92
44 Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004 0.92
45 HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol 2005 0.91
46 The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics 2007 0.89
47 Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. Am J Hematol 2007 0.89
48 Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. Genet Med 2011 0.88
49 Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. Am J Med Genet A 2004 0.84
50 Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. J Immunol 2012 0.83
51 A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J Hum Genet 2006 0.83
52 Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 2004 0.83
53 Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). J Clin Immunol 2015 0.82
54 USIDNET: a strategy to build a community of clinical immunologists. J Clin Immunol 2014 0.82
55 Immunodeficiency disorders. Hematology Am Soc Hematol Educ Program 2003 0.82
56 Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J Clin Immunol 2015 0.82
57 A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant 2014 0.81
58 Successes and risks of gene therapy in primary immunodeficiencies. J Allergy Clin Immunol 2004 0.81
59 Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras. Blood 2002 0.80
60 Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow. Proc Natl Acad Sci U S A 2002 0.80
61 Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome. Clin Immunol 2002 0.80
62 A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant 2014 0.79
63 Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol 2014 0.78
64 Coronin-1A: immune deficiency in humans and mice. J Clin Immunol 2015 0.78
65 Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID). J Clin Immunol 2011 0.77
66 Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant 2011 0.77
67 Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice. Eur J Immunol 2002 0.77
68 Reply: To PMID 22285280. J Allergy Clin Immunol 2013 0.75
69 IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. J Clin Immunol 2015 0.75
70 Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. Pediatrics 2016 0.75
71 A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures. J Am Acad Dermatol 2004 0.75
72 Primary immunodeficiency: meeting the challenges. J Allergy Clin Immunol 2007 0.75