Katherine a. Siminovitch

Katherine a. Siminovitch's AcademicInfluence.com Rankings

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#12817

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Genetics

#1080

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Neuroscience

#1457

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Biochemistry

#1606

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Biology

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Katherine a. Siminovitch's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetics of rheumatoid arthritis contributes to biology and drug discovery (2013) (1877)
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci (2010) (1285)
Functional variants of OCTN cation transporter genes are associated with Crohn disease (2004) (825)
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease (2001) (820)
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis (2011) (812)
Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene (1993) (593)
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (2009) (559)
Recruitment and activation of PTP1C in negative regulation of antigen receptor signaling by Fc gamma RIIB1. (1995) (543)
Pervasive Sharing of Genetic Effects in Autoimmune Disease (2011) (537)
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. (2000) (532)
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma (2011) (526)
Errata (1888) (501)
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis (2012) (411)
Antigen Receptor–Induced Activation and Cytoskeletal Rearrangement Are Impaired in Wiskott-Aldrich Syndrome Protein–Deficient Lymphocytes (1999) (385)
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis (2010) (372)
Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci (2011) (355)
Roles of the SHP-1 tyrosine phosphatase in the negative regulation of cell signalling. (2000) (353)
Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk (2009) (343)
The PTEN/MMAC1/TEP tumor suppressor gene decreases cell growth and induces apoptosis and anoikis in breast cancer cells (1999) (319)
REL, a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis (2009) (310)
Structure of Cdc42 in complex with the GTPase-binding domain of the ‘Wiskott–Aldrich syndrome’ protein (1999) (309)
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study (2017) (302)
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population (2012) (299)
Identification of the tyrosine phosphatase PTP1C as a B cell antigen receptor-associated protein involved in the regulation of B cell signaling (1995) (277)
The autoimmune disease–associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness (2011) (264)
Expression and catalytic activity of the tyrosine phosphatase PTP1C is severely impaired in motheaten and viable motheaten mice (1993) (257)
Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. (2001) (251)
Src Family Protein-tyrosine Kinases Alter the Function of PTEN to Regulate Phosphatidylinositol 3-Kinase/AKT Cascades* (2003) (243)
Signaling capacity of the T cell antigen receptor is negatively regulated by the PTP1C tyrosine phosphatase (1996) (235)
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways (2015) (233)
Abelson-interactor-1 promotes WAVE2 membrane translocation and Abelson-mediated tyrosine phosphorylation required for WAVE2 activation. (2005) (224)
SHP-1 Binds and Negatively Modulates the c-Kit Receptor by Interaction with Tyrosine 569 in the c-Kit Juxtamembrane Domain (1998) (219)
A role for noncoding variation in schizophrenia. (2014) (217)
The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. (2003) (207)
Fyn and PTP-PEST–mediated Regulation of Wiskott-Aldrich Syndrome Protein (WASp) Tyrosine Phosphorylation Is Required for Coupling T Cell Antigen Receptor Engagement to WASp Effector Function and T Cell Activation (2004) (206)
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis (2010) (202)
A uniform deleting element mediates the loss of κ genes in human B cells (1985) (198)
Nonreceptor protein-tyrosine phosphatases in immune cell signaling. (2007) (185)
Leishmania‐induced increases in activation of macrophage SHP‐1 tyrosine phosphatase are associated with impaired IFN‐γ‐triggered JAK2 activation (1999) (184)
Clinical Relevance of a Pharmacogenetic Approach Using Multiple Candidate Genes to Predict Response and Resistance to Imatinib Therapy in Chronic Myeloid Leukemia (2009) (181)
Wasp recruitment to the T cell:APC contact site occurs independently of Cdc42 activation. (2001) (179)
Src Kinase Activity Is Regulated by the SHP-1 Protein-tyrosine Phosphatase* (1997) (177)
SHP-1 Regulates Lck-induced Phosphatidylinositol 3-Kinase Phosphorylation and Activity* (1999) (172)
WIP is a chaperone for Wiskott–Aldrich syndrome protein (WASP) (2007) (163)
Lymphocyte microvilli are dynamic, actin-dependent structures that do not require Wiskott-Aldrich syndrome protein (WASp) for their morphology. (2004) (153)
Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis (2011) (150)
Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. (2005) (146)
The Intersectin 2 Adaptor Links Wiskott Aldrich Syndrome Protein (WASp)-mediated Actin Polymerization to T Cell Antigen Receptor Endocytosis (2001) (144)
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. (2012) (143)
The SHP-1 protein tyrosine phosphatase negatively modulates glucose homeostasis (2006) (142)
A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. (2005) (141)
The role of genetic abnormalities of PTEN and the phosphatidylinositol 3-kinase pathway in breast and ovarian tumorigenesis, prognosis, and therapy. (2001) (139)
Aberrant O-linked oligosaccharide biosynthesis in lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome. (1991) (139)
The Tyrosine Phosphatase PTP1C Associates with Vav, Grb2, and mSos1 in Hematopoietic Cells (*) (1996) (137)
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. (2013) (136)
IVIg-mediated amelioration of murine ITP via FcgammaRIIB is independent of SHIP1, SHP-1, and Btk activity. (2003) (130)
Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene (2014) (128)
Analysis of variable region genes encoding a human anti-DNA antibody of normal origin. Implications for the molecular basis of human autoimmune responses. (1989) (125)
Identification of PTP1C mutation as the genetic defect in motheaten and viable motheaten mice: a step toward defining the roles of protein tyrosine phosphatases in the regulation of hemopoietic cell differentiation and function. (1994) (119)
T Cell Responses in Mammalian Diaphanous-related Formin mDia1 Knock-out Mice* (2007) (114)
CARD15 and HLA DRB1 Alleles Influence Susceptibility and Disease Localization in Crohn's Disease (2004) (113)
Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody–Associated Vasculitis (2017) (112)
PTPN22 and autoimmune disease (2004) (112)
Uptake of apoptotic DC converts immature DC into tolerogenic DC that induce differentiation of Foxp3+ Treg (2010) (111)
Interaction of the Wiskott–Aldrich syndrome protein with sorting nexin 9 is required for CD28 endocytosis and cosignaling in T cells (2007) (109)
Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region. (1994) (108)
Glucagon-like peptide-1 receptor signalling selectively regulates murine lymphocyte proliferation and maintenance of peripheral regulatory T cells (2010) (108)
Role of host phosphotyrosine phosphatase SHP‐1 in the development of murine leishmaniasis (2001) (107)
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis. (2013) (104)
Molecular basis of an autoantibody-associated restriction fragment length polymorphism that confers susceptibility to autoimmune diseases. (1991) (102)
The immunogenetics of primary biliary cirrhosis: A comprehensive review (2015) (102)
A Population- and Family-Based Study of Canadian Families Reveals Association of HLA DRB1*0103 With Colonic Involvement in Inflammatory Bowel Disease (2003) (101)
SHP-1 negatively regulates neuronal survival by functioning as a TrkA phosphatase (2003) (98)
The mDial Formin Is Required for Neutrophil Polarization, Migration, and Activation of the LARG/RhoA/ROCK Signaling Axis during Chemotaxis1 (2009) (96)
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome (2015) (96)
Toronto Hypertrophic Cardiomyopathy Genotype Score for Prediction of a Positive Genotype in Hypertrophic Cardiomyopathy (2013) (95)
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. (1995) (95)
A natural autoantibody is encoded by germline heavy and lambda light chain variable region genes without somatic mutation. (1989) (95)
X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect. (1989) (95)
Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome. (1992) (93)
The Arabidopsis SWI2/SNF2 Chromatin Remodeler BRAHMA Regulates Polycomb Function during Vegetative Development and Directly Activates the Flowering Repressor Gene SVP (2015) (93)
Role of NOD2 variants in spondylarthritis. (2002) (93)
Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models. (2009) (90)
Molecular characterization of hNRP, a cDNA encoding a human nucleosome-assembly-protein-I-related gene product involved in the induction of cell proliferation. (1994) (89)
The Wiskott–Aldrich syndrome protein: forging the link between actin and cell activation (2003) (84)
Deficiency of Src Homology 2-Containing Phosphatase 1 Results in Abnormalities in Murine Neutrophil Function: Studies in Motheaten Mice1 (2000) (84)
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations (2021) (83)
Regulation of B cell signal transduction by SH2-containing protein-tyrosine phosphatases. (1998) (83)
Involvement of the SHP-1 tyrosine phosphatase in regulation of T cell selection. (1999) (81)
Recent advances in the genetics of inflammatory bowel disease (2005) (80)
Elucidation of the integrin LFA-1-mediated signaling pathway of actin polarization in natural killer cells. (2010) (80)
Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. (1987) (78)
Reduction of lupus nephritis in MRL/lpr mice by a bacterial superantigen treatment (1991) (78)
Serum 14-3-3η is a Novel Marker that Complements Current Serological Measurements to Enhance Detection of Patients with Rheumatoid Arthritis (2014) (78)
Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: no association with schizophrenia. (1994) (76)
Hepatic cell-type specific gene expression better predicts HCV treatment outcome than IL28B genotype. (2012) (76)
Regulation of Src Homology 2-containing Tyrosine Phosphatase 1 during Activation of Human Neutrophils (1997) (75)
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12. (2012) (75)
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes (2012) (74)
Negative regulation of myeloid cell proliferation and function by the SH2 domain-containing tyrosine phosphatase-1. (1999) (70)
Classical HLA-DRB1 and DPB1 Alleles Account for HLA Associations with Primary Biliary Cirrhosis (2012) (69)
Apoptotic Dendritic Cells Induce Tolerance in Mice through Suppression of Dendritic Cell Maturation and Induction of Antigen-Specific Regulatory T Cells1 (2009) (69)
Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16. (1998) (68)
Cutting Edge: Selective Requirement for the Wiskott-Aldrich Syndrome Protein in Cytokine, but Not Chemokine, Secretion by CD4+ T Cells1 (2004) (67)
A uniform deleting element mediates the loss of kappa genes in human B cells. (1985) (67)
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. (2014) (67)
Asthma on Tristan da Cunha: looking for the genetic link. The University of Toronto Genetics of Asthma Research Group. (1996) (67)
The Motheaten Mutation Rescues B Cell Signaling and Development in CD45-deficient Mice (1997) (67)
N-WASp is required for Schwann cell cytoskeletal dynamics, normal myelin gene expression and peripheral nerve myelination (2011) (64)
Functional platelet-activating factor receptors are expressed by monocytes and granulocytes but not by resting or activated T and B lymphocytes from normal individuals or patients with asthma. (1994) (63)
Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome. (2016) (63)
CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population. (2009) (63)
Regulation of the Leishmania‐induced innate inflammatory response by the protein tyrosine phosphatase SHP‐1 (2005) (62)
Fibrocyte activation in rheumatoid arthritis. (2010) (62)
Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies (2001) (60)
Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts (2007) (60)
Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. (2012) (60)
Flow cytometric analysis of platelets from childrenwith the Wiskott‐Aldrich syndrome reveals defects in platelet development, activation and structure (1997) (59)
Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. (2014) (59)
Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population. (2006) (59)
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. (2015) (58)
Non-HLA genes modulate the risk of rheumatoid arthritis associated with HLA-DRB1 in a susceptible North American Native population (2011) (58)
The SH2 Domain Containing Tyrosine Phosphatase-1 Down-regulates Activation of Lyn and Lyn-induced Tyrosine Phosphorylation of the CD19 Receptor in B Cells* (2001) (57)
Abelson Interactor Protein-1 Positively Regulates Breast Cancer Cell Proliferation, Migration, and Invasion (2007) (56)
Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway (2013) (56)
SHP-1 Regulation of p62DOK Tyrosine Phosphorylation in Macrophages* (1999) (56)
Tyrosine phosphatase MEG2 modulates murine development and platelet and lymphocyte activation through secretory vesicle function (2005) (55)
The human kappa deleting element and the mouse recombining segment share DNA sequence homology. (1987) (55)
Vitamin D Receptor Polymorphism rs2228570 (Fok1) Is Associated with Rheumatoid Arthritis in North American Natives (2012) (55)
Utility of Incorporating Genetic Variants for the Early Detection of Prostate Cancer (2009) (54)
Biochemical and Genetic Evidence for a SAP-PKC-θ Interaction Contributing to IL-4 Regulation (2010) (53)
Neonatal Behçet's syndrome in an infant of a mother with the disease. (1981) (53)
The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease. (2012) (53)
Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events (2014) (52)
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics. (2007) (49)
Pathway-based analysis of primary biliary cirrhosis genome-wide association studies (2013) (49)
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome (1996) (49)
Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy (2011) (49)
Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation. (1989) (48)
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. (1990) (47)
A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da Cunha. (2003) (47)
The major SHP-1-binding, tyrosine-phosphorylated protein in macrophages is a member of the KIR/LIR family and an SHP-1 substrate (1998) (46)
An expanded population of natural killer cells in mice with severe combined immunodeficiency (SCID) lack rearrangement and expression of T cell receptor genes (1986) (44)
Endometrial Cancer Risk Is Associated with Variants of the Mismatch Repair Genes MLH1 and MSH2 (2006) (44)
Involvement of the Wiskott-Aldrich syndrome protein and other actin regulatory adaptors in T cell activation. (2004) (43)
SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population. (2005) (43)
Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T‐lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: Evidence for a gene–gene interaction (2010) (42)
The Protein Tyrosine Phosphatase SHP-2 Regulates Interleukin-1-induced ERK Activation in Fibroblasts* (2003) (42)
WASp verprolin homology, cofilin homology, and acidic region domain-mediated actin polymerization is required for T cell development (2002) (41)
Genetic variants in the candidate genes of the apoptosis pathway and susceptibility to chronic myeloid leukemia. (2008) (41)
A human anti-cardiolipin autoantibody is encoded by developementally restricted heavy and light chain variable region genes. (1990) (40)
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
The Protein-tyrosine Phosphatase SHP-1 Regulates the Phosphorylation of α-Actinin* (2004) (39)
A genome-wide association screen identifies regions on chromosomes 1q25 and 7p21 as risk loci for sporadic prostate cancer (2008) (39)
Variants of the hK2 Protein Gene (KLK2) Are Associated with Serum hK2 Levels and Predict the Presence of Prostate Cancer at Biopsy (2006) (38)
Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits (2007) (38)
RFC1 80G>A Is a Genetic Determinant of Methotrexate Efficacy in Rheumatoid Arthritis: A Human Genome Epidemiologic Review and Meta‐Analysis of Observational Studies (2014) (38)
Phosphorylation of SHP-2 Regulates Interactions between the Endoplasmic Reticulum and Focal Adhesions to Restrict Interleukin-1-induced Ca2+ Signaling* (2006) (37)
New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort (2011) (37)
Possible deletion of a developmentally regulated heavy-chain variable region gene in autoimmune diseases. (1990) (37)
Fine mapping the TAGAP risk locus in rheumatoid arthritis (2011) (36)
Genetic Variants in IL-23R and ATG16L1 Independently Predispose to Increased Susceptibility to Crohn's Disease in a Canadian Population (2009) (36)
Epitope mapping of the cloned human autoantigen, histidyl-tRNA synthetase. Analysis of the myositis-associated anti-Jo-1 autoimmune response. (1989) (35)
From human autoantibodies to the fetal antibody repertoire to B cell malignancy: it's a small world after all. (1990) (35)
Immunoglobulin gene rearrangements and expression in diffuse histiocytic lymphomas reveal cellular lineage, molecular defects, and sites of chromosomal translocation. (1986) (35)
Multiparameter Phospho-Flow Analysis of Lymphocytes in Early Rheumatoid Arthritis: Implications for Diagnosis and Monitoring Drug Therapy (2009) (35)
Phenotype-Stratified Genetic Linkage Study Demonstrates that IBD2 Is an Extensive Ulcerative Colitis Locus (2006) (35)
Molecular characterization and mapping of murine genes encoding three members of the stefin family of cysteine proteinase inhibitors. (1993) (35)
A functional G300S variant of the cysteinyl leukotriene 1 receptor is associated with atopy in a Tristan da Cunha isolate (2007) (35)
DLG5 variants contribute to Crohn disease risk in a Canadian population (2006) (34)
Hepatocyte-Specific Ptpn6 Deletion Protects From Obesity-Linked Hepatic Insulin Resistance (2012) (34)
Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. (2012) (34)
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect (2017) (33)
Pharmacogenetics of the G protein-coupled receptors. (2014) (33)
Circulating immune complexes in patients with progressive systemic sclerosis. (1982) (32)
A review of economic evaluations of genetic testing services and interventions (2004–2009) (2011) (32)
Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients (2012) (32)
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank (2022) (31)
G protein-coupled receptor pharmacogenetics. (2008) (31)
Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations. (2013) (31)
Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. (1995) (30)
Analysis of the components of bile flow in the rhesus monkey. (1975) (29)
Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome. (1990) (29)
Hepatocyte‐specific Ptpn6 deletion promotes hepatic lipid accretion, but reduces NAFLD in diet‐induced obesity: Potential role of PPARγ (2014) (29)
14-3-3η Autoantibodies: Diagnostic Use in Early Rheumatoid Arthritis (2015) (29)
The Src-homology domain 2-bearing protein tyrosine phosphatase-1 inhibits antigen receptor-induced apoptosis of activated peripheral T cells. (1999) (28)
In vivo tumor immunotherapy by a bacterial superantigen. (1993) (28)
A highly informative probe for two polymorphic Vh gene regions that contain one or more autoantibody-associated Vh genes. (1989) (27)
Nucleotide sequence of the intron of the germline human kappa immunoglobulin gene connecting the J and C regions reveals a matrix association region (MAR) next to the enhancer. (1992) (27)
Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1. (2008) (27)
Molecular characterization of the human immunoglobulin VλI germline gene repertoire (1992) (26)
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs (2021) (26)
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs (2021) (26)
Whole genome amplification of buccal cell DNA: genotyping concordance before and after multiple displacement amplification (2005) (26)
NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis. (2003) (26)
W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy. (2005) (25)
Advances in the molecular dissection of inflammatory bowel disease. (2006) (24)
Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene. (2015) (23)
Preliminary report on the Mount Sinai Hospital Inflammatory Bowel Disease Genetics Project (1997) (23)
Genetic Testing in Combination with Preventive Donepezil Treatment for Patients with Amnestic Mild Cognitive Impairment (2012) (23)
Src kinase Hck association with the WASp and mDia1 cytoskeletal regulators promotes chemoattractant-induced Hck membrane targeting and activation in neutrophils. (2009) (23)
Molecular analysis of human immunoglobulin Vλ germline genes: Subgroups VλIII and VλIV (1992) (22)
Compartmentalized CDK2 is connected with SHP-1 and β-catenin and regulates insulin internalization. (2011) (21)
Protein-tyrosine Phosphatase-α and Src Functionally Link Focal Adhesions to the Endoplasmic Reticulum to Mediate Interleukin-1-induced Ca2+ Signaling* (2009) (21)
Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development (2019) (21)
Genetics in PBC: What Do the “Risk Genes” Teach Us? (2015) (21)
Coincident Kaposi sarcoma and T‐cell lymphoma in a patient with the Wiskott‐Aldrich syndrome (1992) (20)
Wiskott-Aldrich syndrome: new molecular and biochemical insights. (1992) (20)
Atypical Wiskott-Aldrich syndrome in a girl (1992) (20)
T cell anergy is programmed early after exposure to bacterial superantigen in vivo. (1993) (20)
Mammalian Diaphanous-Related Formin 1 Regulates GSK3β-Dependent Microtubule Dynamics Required for T Cell Migratory Polarization (2013) (20)
Protein tyrosine phosphatase roles in the regulation of lymphocyte signaling. (1997) (19)
Epstein-Barr virus immortalization of normal cells of B cell lineage with nonproductive, rearranged immunoglobulin genes. (1986) (19)
The protein-tyrosine phosphatase SHP-1 regulates the phosphorylation of alpha-actinin. (2004) (19)
A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. (1995) (18)
Comprehensive Profiling of the Rheumatoid Arthritis Antibody Repertoire (2020) (18)
Contributions of Wiskott–Aldrich syndrome family cytoskeletal regulatory adapters to immune regulation (2009) (18)
TYROSINE PHOSPHORYLATION OF P 85 RELIEVES ITS INHIBITORY ACTIVITY ON PHOSPHATIDYLINOSITOL 3-KINASE (2001) (18)
Ras-guanine-nucleotide-releasing factors 1 and 2 interact with PLCγ at focal adhesions to enable IL-1-induced Ca(2+) signalling, ERK activation and MMP-3 expression. (2013) (18)
Involvement of the SHP-1 tyrosine phosphatase in regulating B lymphocyte antigen receptor signaling, proliferation and transformation. (1999) (18)
Antigen receptor‐triggered apoptosis in immature B cell lines is associated with the binding of a 44‐kDa phosphoprotein to the PTP1C tyrosine phosphatase (1995) (18)
Atypical Wiskott-Aldrich syndrome in a girl. (1992) (17)
Inflammatory bowel disease: Crohn's disease and the success of NODern genetics. (2003) (17)
X chromosome contribution to the genetic architecture of primary biliary cholangitis. (2021) (16)
REL, encoding a member of the NF-kB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis (2020) (16)
CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease. (2004) (16)
WAVE2 suppresses mTOR activation to maintain T cell homeostasis and prevent autoimmunity (2021) (16)
The biologic significance of human natural autoimmune responses: relationship to the germline, early immune and malignant B cell variable gene repertoire. (1990) (16)
Locus category based analysis of a large genome-wide association study of rheumatoid arthritis. (2010) (16)
Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review (2019) (16)
The PTPN22 1858T variant is not associated with primary biliary cirrhosis. (2006) (15)
Bile Production in Fasted and Fed Primates (1974) (15)
Restricted CDR3 length of the heavy chain is characteristic of six randomly isolated disease-associated VH J558+ IgM autoantibodies in lupus prone motheaten mice. (1997) (14)
Chronic myeloid leukemia arising in a progenitor common to T cells and myeloid cells. (1990) (14)
G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective. (2006) (14)
X chromosome dose and sex bias in autoimmune diseases: increased 47,XXX in systemic lupus erythematosus and Sjögren’s syndrome (BA4P.211) (2014) (13)
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes (2021) (13)
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24 (2008) (12)
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms (2020) (11)
Gene Therapy and Dermatology: More Than Just Skin Deep (1999) (11)
Immune Regulatory Abnormalities in Systemic Lupus Erythematosus (1983) (11)
The role of germline polymorphisms in the T-cell receptor in susceptibility to ankylosing spondylitis. (1998) (11)
Prenatal diagnosis and genetic analysis of Wiskott–Aldrich syndrome (2003) (11)
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease (2022) (11)
Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis (2021) (10)
Toward the molecular dissection of primary biliary cirrhosis (2009) (10)
Monoclonal Antibodies for the Treatment of Hypercholesterolemia: Targeting PCSK9. (2016) (10)
G-Protein-Coupled Receptors and Asthma Endophenotypes (2012) (9)
Selective impairment of CD43-mediated T cell activation in the Wiskott-Aldrich syndrome. (1993) (9)
Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction (1989) (9)
Glutamate and Synaptic Plasticity Systems and Smoking Behavior: Results from a Genetic Association Study (2012) (8)
Clinical and Investigative Medicine (2006) (8)
The Wiskott-Aldrich syndrome. (1993) (8)
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis (2022) (8)
Genetic analysis of the variable region genes encoding a monospecific human natural anti‐DNA antibody (1993) (8)
Primer: genomic and proteomic tools for the molecular dissection of disease (2007) (7)
Defective expression of CD23 and autocrine growth‐stimulation in Epstein‐Barr virus (EBV)‐transformed B cells from patients with Wiskott‐Aldrich syndrome (WAS) (1993) (7)
Molecular intensive care medicine (1999) (7)
A coupled assay for UDP-GlcNAc:Galβ1-3GalNAc-R β1,6-N-acetylglucosaminyltransferase (GlcNAc to GalNAc) (1992) (7)
Signal Transduction and the Coordination of B Lymphocyte Development and Function I (2000) (7)
Immunoglobulin heavy chain variable gene utilization in human large cell and Burkitt's lymphoma cell lines. (1994) (6)
Protein-tyrosine phosphatase-α and Src functionally link focal adhesions to the endoplasmic reticulum to mediate interleukin-1-induced Ca2+ signaling. (2009) (6)
Identification of the NF-κB activating protein-like locus as a risk locus for rheumatoid arthritis (2012) (6)
Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin (2001) (6)
Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3–p11.22 region (1993) (5)
Involvement of the protein tyrosine phosphatase PTP1C in cellular physiology, autoimmunity and oncogenesis. (1994) (5)
Signaling Capacity of the T Cell Antigen Receptor Is Negatively Regulated by the PTPIC Tyrosine Phosphatase By Giovanni Pani,*~ Klaus-Dieter Fischer,~ Irena Mlinaric-Rascan,*~ (1996) (5)
Molecular analysis of human immunoglobulin V lambda germline genes: subgroups V lambda III and V lambda IV. (1992) (5)
Increased expression of the stefin A cysteine proteinase inhibitor occurs in the myelomonocytic cell-infiltrated tissues of autoimmune motheaten mice. (1994) (5)
Core 2N-acetylglucosaminyltransferase activity: a diagnostic marker for Wiskott-Aldrich syndrome (1994) (5)
The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1 (1992) (4)
T cell receptor gene rearrangements in cells with natural killer activity in the mouse (1986) (4)
Sex Bias In Autoimmune Diseases : Increased Risk Of 47,XXX In Systemic Lupus Erythematosus (SLE) and Sjogren's Syndrome (SS) Supports The Gene Dose Hypothesis (2013) (4)
Genetic Rearrangements of Human Immunoglobulin Genes (1984) (4)
Women in biomedical research--addressing the challenges. (1997) (4)
Functional organization of an Mbp enhancer exposes striking transcriptional regulatory diversity within myelinating glia (2016) (4)
Transcriptional regulators of the Golli/myelin basic protein locus integrate additive and stealth activities (2020) (4)
Efficient Production of sTNFRII-gAD Fusion Protein in Large Quantity by Use of the Modified CHO-S Cell Expression System (2014) (3)
New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians (2018) (3)
The new immunology. (1992) (3)
Molecular characterization of the human immunoglobulin V lambda I germline gene repertoire. (1992) (3)
Introduction: Role of infection in autoimmune disease (1998) (3)
The significance and limitations of current methods for detecting circulating immune complexes. (1981) (3)
The role of T cell receptors in non-MHC-restricted cytotoxicity. (1989) (3)
Contribution of HLA class II genes to susceptibility to ulcerative colitis (UC) in a Canadian inflammatory bowel disease (IBD) population (1998) (3)
Clinical Relevance of a Pharmacogenetic Approach Using Multiple Candidate Gene Polymorphisms To Predict Response and Resistance to Imatinib Mesylate Therapy in Chronic Myeloid Leukemia. (2007) (3)
Human B-cell precursor leukemias. (1984) (3)
Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study. (2021) (3)
Genetic dissection of inflammatory bowel disease: unravelling etiology and improving diagnostics (2005) (2)
Granulomatosis with polyangiitis (Wegener's) is associated with HLA-DPB1*04 and EMA6A gene variants. Evidence from a genome-wide analysis (2013) (2)
CDRH3 Length Is the Target of Selection of Disease‐associated IgM Autoantibodies a (1997) (2)
Clinical Relevance of Vascular Endothelial Growth Factor (VEGFA) and VEGF Receptor (VEGFR2) Gene Single Nucleotide Polymorphism on the Treatment Outcomes Following Imatinib Mesylate Therapy. (2008) (2)
MOLECULAR CHARACTERIZATION OF HUMAN ANTI-DNA ANTIBODIES (1990) (2)
Anti-Jo-1 autoantibodies and the immunopathogenesis of autoimmune myositis. (1991) (2)
Involvement of the lymphocyte cytoskeleton in antigen-receptor signaling. (2000) (2)
Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent (2012) (2)
Molecular characterization of the X-linked immunodeficiency diseases (1994) (2)
TIE: A Method to Electroporate Long DNA Templates into Preimplantation Embryos for CRISPR-Cas9 Gene Editing (2018) (2)
Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome" [Clin. Immunol. 168 (2016) 25-29]. (2017) (1)
DNA Rearrangements as Unique Molecular Markers of Clonality, Cellular Lineage, Differentiation, and Translocation (1985) (1)
Genetics of inflammatory bowel disease: where are we? (2000) (1)
T cell receptor genes in rheumatoid arthritis (2004) (1)
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma (2022) (1)
Genetic interaction in the susceptibility of rheumatoid arthritis (2011) (1)
Introduction to modern molecular biology: fundamental concepts and techniques. (1995) (1)
Navigating the road to personalized medicine: Can we believe? (2010) (1)
FRI0226 93% of Early RA Patients Are Positive for 14-3-3Eta Markers and 14-3-3Eta Auto-Antibodies Inform A Favourable Prognosis, Irrespective of RF or ACPA Status (2014) (1)
susceptibility to chronic myeloid leukemia Genetic variants in the candidate genes of the apoptosis pathway and (2011) (1)
Cardiovascular Risk Factors Are Increased in People Reporting Chronic Pain Symptoms (2010) (1)
Incremental predictive value of deep crypts in the basal inferoseptum in the setting of hypertrophic cardiomyopathy (2013) (1)
Concurrent Oral 3 – Genetics and Epidemiology [OP16–OP23] OP16. Genetic Variation in the Dream Pain Modulation Pathway is Associated with the Extent of Musculoskeletal Pain (2010) (1)
Reply: To PMID 23740775. (2014) (1)
Positional Cloning and Disease Gene Identification (2005) (1)
Obeticholic acid response in primary biliary cholangitis associated with differential expression of antigen presentation, Wnt signalling and mRNA splicing (2018) (1)
Transduction of BCR signals from the cell membrane to the nucleus (2000) (1)
259 Specific Crohn's Disease (CD) Associated Risk Alleles Are Associated With the Composition of the Intestinal Microbiota in Healthy First Degree Relatives (FDR) of CD Subjects (2013) (1)
Report from the University of Toronto Department of Medicine Ad Hoc Committee on career development of clinician scientists. (1997) (1)
A coupled assay for UDP-GlcNAc:Gal beta 1-3GalNAc-R beta 1,6-N-acetylglucosaminyltransferase (GlcNAc to GalNAc). (1992) (1)
Confirmation of non-MHC genetic loci by whole genome linkage studies in ankylosing spondylitis. (2000) (1)
Variation at DENND1B and Asthma on the Island of Tristan da Cunha (2019) (1)
Translation of BCR signals to specific physiologic outcomes (2000) (1)
Corrigendum to "Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott-Aldrich Syndrome in Preclinical Models". (2009) (1)
Deploying next-generation sequencing in a hospital setting (2012) (0)
PM3 ECONOMIC EVALUATION OF GENETIC TEST IN COMBINATION WITH PREVENTIVE DONEPEZIL TREATMENT FOR AMNESTIC MILD COGNITIVE IMPAIRMENT PATIENTS: LIFE- TIME MODEL (2010) (0)
CS1-7 Activated fibrocytes contribute to disease pathogenesis in rheumatoid arthritis (2010) (0)
The wiskott aldrich syndrome gene localization and carrier detection with restriction fragment length polymorphisms (1986) (0)
Antigen-Specific Regulatory T Cells Cell Maturation and Induction of in Mice through Suppression of Dendritic Apoptotic Dendritic Cells Induce Tolerance (2009) (0)
RFLP Standardization Report for C4/KpnI (1989) (0)
1400 DISCOVERY OF A DIRECT ASSOCIATION BETWEEN PRIMARY BILIARY CIRRHOSIS AND LOW BONE MASS: IDENTIFICATION OF TNFSF11/RANKL AS A RISK LOCUS FOR PATIENTS WITH PBC (2012) (0)
Topic: AS04-MDS Biology and Pathogenesis/AS04c-MDS Mouse models (GEMMS, PDX): MAMMALIAN DIAPHANOUS-RELATED FORMIN 1 IS REQUIRED FOR MAINTAINING HEMATOPOIETIC STEM CELL QUIESCENCE AND SURVIVAL VIA REGULATING MITOCHONDRIA OXIDATIVE METABOLIC PATHWAY (2023) (0)
Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581]. (2023) (0)
Tu1744 The Relationship Between Common IBD-Associated Risk Alleles and Intestinal Permeability in a Cohort of Healthy First Degree Relatives of Individuals With Crohn's Disease (2013) (0)
RFLP Standardization Report for DR Beta/KpnI (1989) (0)
SAT0037 14-3-3 ETA Sero-Positivity Marks More Severe Disease and Titres Inform Response to Therapy, also in Patients with Lower Crp (2013) (0)
RFLP Standardization Report for DQ Beta/KpnI (1989) (0)
Henry Friesen Award. Inflammatory bowel disease in the era of genomic medicine. (2006) (0)
Rheumatoid Arthritis in North American Natives Vitamin D Receptor Polymorphism rs 2228570 ( Fok 1 ) Is Associated with (2012) (0)
Biochemical and Genetic Evidence for a Signaling Lymphocytic Activation Molecule-Associated Protein–Protein Kinase C-u Interaction Contributing to IL-4 Regulation (2010) (0)
Self-labelled encoder-decoder (SLED) for multi-echo gradient echo-based myelin water imaging (2022) (0)
NK cells and NK receptors (PP-007) (2010) (0)
Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581] (2021) (0)
Neonatal Behcet's syndrome inaninfant ofamother withthedisease (1981) (0)
Estimating the strength of genetic effects: a comparison of maximum likelihood and transmission disequilibrium methods in the study of ankylosing spondylitis. (1997) (0)
Genetic susceptibility in a Canadian inflammatory bowel disease (IBD) population (1998) (0)
A genome-wide scan in a canadian inflammatory bowel disease (IBD) population reveals two novel susceptibility loci (2000) (0)
Uptake of apoptotic dendritic cells by viable dendritic cells: a novel mechanism of inducing immune tolerance (48.7) (2009) (0)
RFLP Standardization Report for DP Beta/KpnI (1989) (0)
The Journal of Rheumatology Measurements to Enhance Detection of Patients with Rheumatoid Arthritis is a Novel Marker that Complements Current Serological η Serum 14-3-3 (2014) (0)
Measurements to Enhance Detection of Patients with Rheumatoid Arthritis is a Novel Marker that Complements Current Serological η Serum 14-3-3 (2014) (0)
Domain-Containing Tyrosine Phosphatase-1 Proliferation and Function by the SH 2 Negative Regulation of Myeloid Cell (1999) (0)
Multiparameter phospho-flow analysis of peripheral blood in early rheumatoid arthritis (2009) (0)
Genetic Testing in Combination with Preventive Donepezil Treatment for Patients with Amnestic Mild Cognitive Impairment (2012) (0)
nucleosome-assembly-protein-l-related gene product involved in the induction of cell proliferation (2005) (0)
Protein-tyrosine Phosphatase- and Src Functionally Link Focal Adhesions to the Endoplasmic Reticulum to Mediate (2009) (0)
Subject Index, Vol. 3, 1984 (1984) (0)
Biological Insights From Genetics Of Rheumatoid Arthritis Contribute To Drug Discovery (2013) (0)
StructureofCdc 42 incomplex with theGTPase-binding domainofthe ‘ Wiskott – Aldrich syndrome ’ protein (0)
Original article Fibrocyte activation in rheumatoid arthritis (2010) (0)
HIGH THROUGHPUT SNP ANALYSIS OF BRCA1/2 ASSOCIATED DNA MISMATCH REPAIR GENES IN OVARIAN CANCER: PREDICTING RESPONSE TO CHEMOTHERAPY AND SURVIVAL (2004) (0)
Abacteriophageencodinga pathogenicity island , a type-IV pilusandaphage receptor incholerabacteria (1999) (0)
inactivation (see comments) unrelated males based on studies of maternal T cell X chromosome Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two (2011) (0)
Medicine,UniversityofToronto,MountSinaiHospital,SamuelLunenfeldandTorontoGeneralHospital ResearchInstitutes,Toronto,OntarioM5G1X5,Canada (2007) (0)
Metagenomics and autoimmune liver disease: searching for the unknown (2009) (0)
Peripheral T Cells Receptor-Induced Apoptosis of Activated Tyrosine Phosphatase-1 Inhibits Antigen The Src-Homology Domain 2-Bearing Protein (1999) (0)
Phosphatase in Regulation of T Cell Selection Involvement of the SHP-1 Tyrosine (1999) (0)
Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis (2023) (0)
Identification of two novel susceptibility loci in a Canadian inflammatory bowel disease population (2000) (0)
Murine Neutrophil Function: Studies in Phosphatase 1 Results in Abnormalities in Deficiency of Src Homology 2-Containing (2000) (0)
Systemic Administration of SEB Reduces Both Immune Corn-flex and dsDNA-specific Ab Titer (2003) (0)
A modifier in the 129S2/SvPasCrl genome is responsible for the viability of Notch1[12f/12f] mice (2019) (0)
RFLP Standardization Report for Class I/KpnI (1989) (0)
FEMALE SEX IS ASSOCIATED WITH ADVERSE CLINICAL AND ECHOCARDIOGRAPHIC MEASURES IN A GENETICALLY TESTED HYPERTROPHIC CARDIOMYOPATHY COHORT (2013) (0)
Role of infection in autoimmune disease. (1998) (0)
Functional interaction of the SHP1 SH2 domain containing tyrosine phosphatase with the PTEN tumor suppressor gene is regulated by growth factors (2000) (0)
Diagnostic misclassification of patients with presumed inflammatory bowel disease (IBD) (2000) (0)
Effect of diagnostic misclassification on the ability to detect linkage in inflammatory bowel disease (IBD) (2000) (0)
Reply (2014) (0)
PMH31 Genetic Testing in Combination With Preventive Donepezil Treatment for Amnestic Mild Cognitive Impairment Patients: An Exploratory Economic Evaluation of Personalized Medicine (2012) (0)
Physiological Considerations in the Planning of Studies of Cholestasis (1975) (0)
Novel insights into mouse models of ectopic proplatelet release (2022) (0)
Contents, Vol. 3, 1984 (1984) (0)
91% Of Early RA Patients Are Positive For Serum 14-3-3 eta Or Its Auto-Antibodies (2013) (0)

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