Published in Blood on February 19, 2010
The genomic landscape of juvenile myelomonocytic leukemia. Nat Genet (2015) 1.61
IL-2 induces a WAVE2-dependent pathway for actin reorganization that enables WASp-independent human NK cell function. J Clin Invest (2011) 1.40
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. Front Immunol (2012) 1.27
Genetics of familial forms of thrombocytopenia. Hum Genet (2012) 1.24
Retracted The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol (2012) 1.11
Novel clearance mechanisms of platelets. Curr Opin Hematol (2010) 1.00
Ubiquitous high-level gene expression in hematopoietic lineages provides effective lentiviral gene therapy of murine Wiskott-Aldrich syndrome. Blood (2012) 0.99
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease. J Pediatr Gastroenterol Nutr (2014) 0.92
Nuclear role of WASp in gene transcription is uncoupled from its ARP2/3-dependent cytoplasmic role in actin polymerization. J Immunol (2014) 0.88
Wiskott-Aldrich Syndrome at the nexus of autoimmune and primary immunodeficiency diseases. FEBS Lett (2011) 0.87
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood (2015) 0.86
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol (2015) 0.84
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding. J Allergy Clin Immunol (2011) 0.84
Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis. Platelets (2012) 0.82
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. Clin Mol Allergy (2011) 0.81
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. Blood (2015) 0.79
WIP remodeling actin behind the scenes: how WIP reshapes immune and other functions. Int J Mol Sci (2012) 0.78
Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report. Ital J Pediatr (2011) 0.78
Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet (2014) 0.78
Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome. Blood (2014) 0.78
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? J Clin Immunol (2011) 0.77
ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol (2014) 0.77
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J Clin Immunol (2014) 0.76
A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome. Indian J Hematol Blood Transfus (2014) 0.75
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. Korean J Pediatr (2013) 0.75
Adult-onset immunodeficiency--why is it important in rheumatology? Arthritis Res Ther (2013) 0.75
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. BMC Pediatr (2017) 0.75
A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report. J Med Case Rep (2016) 0.75
Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. J Clin Immunol (2013) 0.75
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med (2006) 9.68
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest (2008) 9.42
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2003) 8.59
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med (2009) 8.20
MPact: the MIPS protein interaction resource on yeast. Nucleic Acids Res (2006) 7.75
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest (2008) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci U S A (2006) 5.50
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet (2004) 5.43
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 4.94
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med (2010) 4.76
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood (2007) 4.14
Transcellular diapedesis is initiated by invasive podosomes. Immunity (2007) 4.06
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol (2003) 3.69
AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol (2003) 3.69
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2010) 3.54
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
A randomized, placebo-controlled trial of infliximab plus methotrexate for the treatment of polyarticular-course juvenile rheumatoid arthritis. Arthritis Rheum (2007) 3.32
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest (2007) 3.28
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood (2010) 3.23
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (2012) 3.10
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
Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest (2007) 2.80
Essential role of the NADPH oxidase subunit p47(phox) in endothelial cell superoxide production in response to phorbol ester and tumor necrosis factor-alpha. Circ Res (2002) 2.79
Hot spots of retroviral integration in human CD34+ hematopoietic cells. Blood (2007) 2.79
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Effective gene therapy with nonintegrating lentiviral vectors. Nat Med (2006) 2.70
Astrovirus encephalitis in boy with X-linked agammaglobulinemia. Emerg Infect Dis (2010) 2.69
X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) (2006) 2.66
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med (2005) 2.66
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res (2008) 2.64
Insertional transformation of hematopoietic cells by self-inactivating lentiviral and gammaretroviral vectors. Mol Ther (2009) 2.56
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol (2008) 2.50
Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2009) 2.47
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic response to perinatal and adult metabolic demand. Cell (2012) 2.45
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol (2006) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood (2007) 2.36
E-cadherin regulates metastasis of pancreatic cancer in vivo and is suppressed by a SNAIL/HDAC1/HDAC2 repressor complex. Gastroenterology (2009) 2.35
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol (2010) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33