Jay A. Tischfield

Jay A. Tischfield's AcademicInfluence.com Rankings

Jay A. Tischfield

Biology

#12572

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#16057

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Computational Biology

#277

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#278

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Cell Biology

#673

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#687

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Genetics

#1381

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#1483

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Biology

Jay A. Tischfield's Degrees

Masters Biology Cornell University
Bachelors Biochemistry Stanford University

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Jay A. Tischfield's Published Works

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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

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism (2011) (1218)
Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. (1998) (1071)
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A (1995) (944)
Genome-wide search for genes affecting the risk for alcohol dependence. (1998) (738)
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
Variants in nicotinic receptors and risk for nicotine dependence. (2008) (612)
A genome-wide association study of alcohol dependence (2010) (544)
The Functions of Five Distinct Mammalian Phospholipase A2s in Regulating Arachidonic Acid Release (1998) (384)
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. (2004) (331)
Heritability and Genomics of Gene Expression in Peripheral Blood (2014) (325)
Embryonic stem cells and somatic cells differ in mutation frequency and type (2002) (307)
A Reassessment of the Low Molecular Weight Phospholipase A2 Gene Family in Mammals* (1997) (305)
Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus (2002) (294)
Genome-wide association study of alcohol dependence implicates a region on chromosome 11. (2010) (292)
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture (2013) (280)
CCR2-dependent recruitment of macrophages by tumor-educated mesenchymal stromal cells promotes tumor development and is mimicked by TNFα. (2012) (274)
THE LINKAGE OF GENES FOR THE HUMAN INTERFERON-INDUCED ANTIVIRAL PROTEIN AND INDOPHENOL OXIDASE-B TRAITS TO CHROMOSOME G-21 (1973) (273)
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. (2006) (262)
Novel Group V Phospholipase A2 Involved in Arachidonic Acid Mobilization in Murine P388D1 Macrophages* (1996) (258)
L-histidine decarboxylase and Tourette's syndrome. (2010) (253)
The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylation. (2013) (231)
The Role of GABRA2 in Risk for Conduct Disorder and Alcohol and Drug Dependence across Developmental Stages (2006) (230)
Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence (2009) (230)
Cloning and recombinant expression of a novel human low molecular weight Ca(2+)-dependent phospholipase A2. (1994) (223)
ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry (2011) (197)
SIRT7 promotes genome integrity and modulates non‐homologous end joining DNA repair (2016) (185)
The Netherlands Twin Register Biobank: A Resource for Genetic Epidemiological Studies (2010) (179)
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism (2012) (178)
Groups IV, V, and X Phospholipases A2s in Human Neutrophils (2002) (177)
Altered Hematopoiesis, Behavior, and Sexual Function in μ Opioid Receptor–deficient Mice (1997) (177)
Gene expression in major depressive disorder (2016) (175)
Analysis of the Secretory Phospholipase A2 That Mediates Prostaglandin Production in Mast Cells* (1997) (173)
Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks (2008) (159)
Association of the κ-opioid system with alcohol dependence (2006) (154)
Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019) (153)
Standard karyotype of the Norway rat, Rattus norvegicus. Committee for a standardized karyotype of rattus norvegicus. (1973) (151)
A Risk Allele for Nicotine Dependence in CHRNA5 Is a Protective Allele for Cocaine Dependence (2008) (150)
Anxiety proneness linked to epistatic loci in genome scan of human personality traits. (1998) (148)
Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition. (2004) (144)
Endophenotypes Successfully Lead to Gene Identification: Results from the Collaborative Study on the Genetics of Alcoholism (2006) (136)
Mouse embryonic stem cells, but not somatic cells, predominantly use homologous recombination to repair double-strand DNA breaks. (2010) (133)
Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence. (2006) (132)
Sex differences in the human peripheral blood transcriptome (2014) (132)
Human Chromosome 21 Dosage: Effect on the Expression of the Interferon Induced Antiviral State (1974) (130)
High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination. (1997) (127)
Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk. (2007) (127)
Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. (2007) (125)
De Novo Coding Variants Are Strongly Associated with Tourette Disorder (2017) (125)
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (2015) (123)
Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice. (1999) (121)
Association of the kappa-opioid system with alcohol dependence. (2006) (120)
Human chromosomes 6 and 21 are required for sensitivity to human interferon gamma. (1987) (120)
Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination. (1997) (117)
Protecting genomic integrity in somatic cells and embryonic stem cells. (2007) (114)
Cloning and characterization of novel rat and mouse low molecular weight Ca(2+)-dependent phospholipase A2s containing 16 cysteines. (1994) (113)
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (1996) (112)
A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism. (1998) (111)
A genome‐wide association study of DSM‐IV cannabis dependence (2011) (109)
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. (2014) (109)
Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. (1985) (107)
Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14 (2005) (106)
Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization. (1974) (105)
The gene for the human immune interferon receptor is located on chromosome 6. (1986) (105)
A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence. (1998) (102)
Genome-wide association study of Tourette Syndrome (2012) (102)
Low-molecular-weight, calcium-dependent phospholipase A2 genes are linked and map to homologous chromosome regions in mouse and human. (1996) (100)
Biomanufacturing for clinically advanced cell therapies (2018) (97)
Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence. (2008) (91)
The novel mouse Polo-like kinase 5 responds to DNA damage and localizes in the nucleolus (2010) (91)
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. (1987) (90)
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks (2013) (89)
Association of NFKB1, which encodes a subunit of the transcription factor NF-kappaB, with alcohol dependence. (2007) (88)
Prevalence of SARS-CoV-2 infection in previously undiagnosed health care workers in New Jersey, at the onset of the U.S. COVID-19 pandemic (2020) (86)
Stress-response pathways are altered in the hippocampus of chronic alcoholics. (2013) (81)
Chromosome instability contributes to loss of heterozygosity in mice lacking p53. (2000) (80)
A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53 (2013) (80)
Replication Stress Induces Micronuclei Comprising of Aggregated DNA Double-Strand Breaks (2011) (79)
Linkage of an alcoholism-related severity phenotype to chromosome 16. (1998) (75)
Somatic Cell Genetic Assignment of Peptidase C and the Rh Linkage Group to Chromosome A-1 in Man (1972) (75)
A regulatory variation in OPRK1, the gene encoding the κ-opioid receptor, is associated with alcohol dependence (2008) (75)
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis (2018) (74)
SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study (2010) (74)
Association of single nucleotide polymorphisms in a glutamate receptor gene (GRM8) with theta power of event‐related oscillations and alcohol dependence (2009) (74)
Modulation of DNA End Joining by Nuclear Proteins* (2005) (72)
Prevalence of SARS-CoV-2 infection in previously undiagnosed health care workers at the onset of the U.S. COVID-19 epidemic (2020) (71)
Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. (1973) (71)
Brief Report: Interferon‐γ Induces Expansion of Lin−Sca‐1+C‐Kit+ Cells (2010) (71)
Polygenic Scores for Major Depressive Disorder and Risk of Alcohol Dependence (2017) (70)
Genetic influences on craving for alcohol. (2013) (70)
Single-nucleotide polymorphisms in corticotropin releasing hormone receptor 1 gene (CRHR1) are associated with quantitative trait of event-related potential and alcohol dependence. (2010) (69)
A New Statistic to Evaluate Imputation Reliability (2010) (69)
A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers. (1999) (68)
A Cholinergic Receptor Gene (CHRM2) Affects Event-related Oscillations (2006) (67)
Assignment of a gene for adenosine deaminase to human chromosome 20. (1974) (66)
Homologous recombination conserves DNA sequence integrity throughout the cell cycle in embryonic stem cells. (2011) (62)
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction (2021) (62)
Other transgenic mutation assays: APRT: A versatile in vivo resident reporter of local mutation and loss of heterozygosity (1996) (62)
HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. (1996) (60)
Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains (2001) (60)
Three secretory phospholipase A(2) genes that map to human chromosome 1P35-36 are not mutated in individuals with attenuated adenomatous polyposis coli. (1996) (58)
A new electrophoretic-autoradiographic method for the visual detection of phosphotransferases. (1973) (57)
Using genetic information from candidate gene and genome‐wide association studies in risk prediction for alcohol dependence (2014) (56)
Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism (2018) (55)
Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase. (1991) (53)
Chromosome Assignments in Man of the Genes for Two Hexosephosphate Isomerases (1973) (52)
Family‐based genome‐wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6 (2012) (52)
Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder (2013) (51)
Cloning, expression and partial characterization of a novel rat phospholipase A2. (1994) (50)
Lack of association of alcohol dependence and habitual smoking with catechol-O-methyltransferase. (2007) (50)
Association of substance dependence phenotypes in the COGA sample (2015) (49)
The AVPR1A Gene and Substance Use Disorders: Association, Replication, and Functional Evidence (2011) (48)
Persistent Infection by HSV-1 Is Associated With Changes in Functional Architecture of iPSC-Derived Neurons and Brain Activation Patterns Underlying Working Memory Performance (2014) (47)
Radiation-induced genetic instability in vivo depends on p53 status. (2002) (47)
Cystinuria: genetic aspects, mouse models, and a new approach to therapy (2018) (46)
The tachykinin receptor 3 is associated with alcohol and cocaine dependence. (2008) (46)
GABRR1 and GABRR2, encoding the GABA‐A receptor subunits ρ1 and ρ2, are associated with alcohol dependence (2010) (45)
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (1998) (44)
Resveratrol protects mouse embryonic stem cells from ionizing radiation by accelerating recovery from DNA strand breakage. (2012) (44)
Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes (2013) (44)
HUMAN GENETIC STUDY: Association analysis of genes encoding the nociceptin receptor (OPRL1) and its endogenous ligand (PNOC) with alcohol or illicit drug dependence (2008) (43)
A Systematic Single Nucleotide Polymorphism Screen to Fine-Map Alcohol Dependence Genes on Chromosome 7 Identifies Association With a Novel Susceptibility Gene ACN9 (2008) (43)
Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts (2010) (42)
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods (2014) (42)
Genome-wide association data suggest ABCB1 and immune-related gene sets may be involved in adult antisocial behavior (2015) (42)
α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria (2017) (41)
Genetics of Alcoholism (1998) (41)
SIRT7 mediates L1 elements transcriptional repression and their association with the nuclear lamina (2019) (41)
Mismatch and base excision repair proficiency in murine embryonic stem cells. (2011) (40)
Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence. (2014) (40)
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci. (1986) (38)
Oxidative stress preferentially induces a subtype of micronuclei and mediates the genomic instability caused by p53 dysfunction. (2014) (38)
Genome‐wide association studies of alcohol dependence, DSM‐IV criterion count and individual criteria (2019) (38)
Assignment of the genes for human peptidase A to chromosome 18 and cytoplasmic glutamic oxaloacetate transaminase to chromosome 10 using somatic-cell hybrids. (1973) (38)
Localization of group IIc low molecular weight phospholipase A2 mRNA to meiotic cells in the mouse (1997) (38)
Cognitive Traits Link to Human Chromosomal Regions (2006) (37)
Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants (1984) (36)
Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Is Comparable in Clinical Samples Preserved in Saline or Viral Transport Medium (2020) (35)
Expression of FACIT collagens XII and XIV during bleomycin-induced pulmonary fibrosis in mice. (2003) (35)
Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans. (2014) (34)
Genomewide association study identifies a novel locus for cannabis dependence (2017) (34)
Appearance of hypoxanthine guanine phosphoribosyltransferase activity as a consequence of mycoplasma contamination (1975) (34)
Tumor resident mesenchymal stromal cells endow naïve stromal cells with tumor-promoting properties (2014) (33)
Genetic and Morphological Features of Human iPSC-Derived Neurons with Chromosome 15q11.2 (BP1-BP2) Deletions (2015) (33)
An ADH1B variant and peer drinking in progression to adolescent drinking milestones: evidence of a gene-by-environment interaction. (2014) (32)
Elevated superoxide dismutase in black alcoholics. (1980) (32)
In vivo loss of heterozygosity in T‐cells of B6C3F1 Aprt+/− mice (2000) (32)
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. (1995) (31)
Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. (2016) (31)
Defining Alcohol-Related Phenotypes in Humans (2002) (31)
Single-base deletion induced by benzo[a]pyrene diol epoxide at the adenine phosphoribosyltransferase locus in human fibrosarcoma cell lines. (1994) (31)
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. (1993) (30)
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. (1992) (30)
Variants Located Upstream of CHRNB4 on Chromosome 15q25.1 Are Associated with Age at Onset of Daily Smoking and Habitual Smoking (2012) (29)
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. (2014) (29)
Chromatin structure, pluripotency and differentiation (2013) (29)
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family (2017) (29)
Gene expression in major depressive disorder. (2016) (28)
A radioimmune assay for human cupro-zinc superoxide dismutase and its application to erythrocytes. (1979) (28)
Identification of DNA sequences required for mouse APRT gene expression. (1988) (28)
New tools and methods for direct programmatic access to the dbSNP relational database (2010) (27)
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. (1991) (27)
A genome-wide association study of alcohol (2010) (26)
Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87. (1993) (25)
The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model. (2007) (25)
Cloning and expression of a mouse adenine phosphoribosyltransferase gene. (1983) (25)
Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Mitochondrial superoxide dismutase (indophenol oxidase-B, tetrameric) to chromosome 6 (1973) (25)
Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells (1982) (25)
Increased nicotine response in iPSC-derived human neurons carrying the CHRNA5 N398 allele (2016) (25)
Somatic recombination redux (2003) (24)
Solid tissues removed from ATM homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations. (1999) (24)
Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines (2012) (24)
Mlh1 mediates tissue-specific regulation of mitotic recombination (2004) (24)
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis. (2000) (24)
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. (2018) (24)
Mutational basis of adenine phosphoribosyltransferase deficiency. (1991) (24)
Sequential analysis of kidney stone formation in the Aprt knockout mouse. (2001) (24)
Biallelic methylation and silencing of mouse Aprt in normal kidney cells. (2000) (23)
Family-based association analysis of alcohol dependence criteria and severity. (2014) (23)
Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity. (2005) (23)
Genetic and Neurophysiological Correlates of the Age of Onset of Alcohol Use Disorders in Adolescents and Young Adults (2013) (23)
Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2−/− mice (2002) (23)
Ethanol-mediated activation of the NLRP3 inflammasome in iPS cells and iPS cells-derived neural progenitor cells (2016) (23)
Setting Priorities for Genomic Research (2004) (22)
l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. (2016) (22)
Common biological networks underlie genetic risk for alcoholism in African‐ and European‐American populations (2013) (22)
Letter: Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome. (1973) (22)
Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. (2014) (22)
Comparative effects of adenine analogs upon metabolic cooperation between Chinese hamster cells with different levels of adenine phosphoribosyltransferase activity. (1978) (21)
SirT7 auto-ADP-ribosylation regulates glucose starvation response through mH2A1 (2020) (21)
Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders (2019) (21)
Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology (2016) (21)
The Aggregate Effect of Dopamine Genes on Dependence Symptoms Among Cocaine Users: Cross-Validation of a Candidate System Scoring Approach (2012) (21)
Prdx1 deficiency in mice promotes tissue specific loss of heterozygosity mediated by deficiency in DNA repair and increased oxidative stress. (2012) (20)
Polygenic Risk Scores Derived From a Tourette Syndrome Genome-wide Association Study Predict Presence of Tics in the Avon Longitudinal Study of Parents and Children Cohort (2019) (20)
Loss of heterozygosity: The most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus (1993) (20)
p38 MAPK Regulates Group IIa Phospholipase A2Expression in Interleukin-1β-stimulated Rat Neonatal Cardiomyocytes* (2001) (20)
Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012) (20)
Reduced apoptosis and increased deletion mutations at Aprt locus in vivo in mice exposed to repeated ionizing radiation. (2007) (19)
Ethanol treatment of lymphoblastoid cell lines from alcoholics and non-alcoholics causes many subtle changes in gene expression. (2014) (19)
Cupro-zinc superoxide dismutase: a possible biologic marker for alcoholism (studies in black patients). (1979) (19)
Addiction associated N40D mu-opioid receptor variant modulates synaptic function in human neurons (2018) (19)
Copy Number Variation Accuracy in Genome-Wide Association Studies (2011) (18)
The abundance of Rad51 protein in mouse embryonic stem cells is regulated at multiple levels. (2012) (18)
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. (1990) (18)
Detection of SARS-CoV-2 is comparable in clinical samples preserved in saline or viral transport media (2020) (18)
A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (2010) (18)
Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry (2013) (18)
Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases (2021) (18)
Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures (2016) (18)
hsa-let-7c miRNA Regulates Synaptic and Neuronal Function in Human Neurons (2018) (17)
Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosomes 2. (1974) (17)
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach (2017) (17)
X-rays induce distinct patterns of somatic mutation in fetal versus adult hematopoietic cells. (2007) (17)
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. (2001) (17)
Bladder outlet obstruction in male cystinuria mice (2010) (16)
Abnormality of chromosome 16 and its phenotypic expression (1981) (16)
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. (1994) (16)
SA136EXPLORING THE RELATIONSHIP BETWEEN POLYGENIC RISK FOR CANNABIS USE, PEER CANNABIS USE, AND THE LONGITUDINAL COURSE OF CANNABIS INVOLVEMENT (2019) (16)
Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first six months of the COVID-19 pandemic (2020) (16)
ERG and CHD1 heterogeneity in prostate cancer: Use of confocal microscopy in assessment of microscopic foci (2014) (15)
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. (1991) (15)
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells (2006) (14)
Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes. (1986) (14)
GDNF gene is associated with tourette syndrome in a family study (2015) (14)
Are genetic variants for tobacco smoking associated with cannabis involvement? (2015) (14)
Ionizing radiation is a potent inducer of mitotic recombination in mouse embryonic stem cells. (2011) (14)
Allelic variation linked to adenine phosphoribosyltransferase locus in mouse teratocarcinoma cell line and feral-derived mouse strains (1989) (14)
Obesity, smoking, and frontal brain dysfunction. (2010) (14)
Determinants and Dynamics of SARS-CoV-2 Infection in a Diverse Population: 6-Month Evaluation of a Prospective Cohort Study (2021) (14)
Genetic association of GABA-A receptor alpha-2 and mu opioid receptor with cocaine cue-reactivity: evidence for inhibitory synaptic neurotransmission involvement in cocaine dependence. (2012) (13)
Suppression of Vesicular Stomatitis Virus Defective Intefering Particle Generation by a Function(s) Associated with Human Chromosome 16 (1981) (13)
Aflatoxin b1, 2‐aminoanthracene, and 7,12‐dimethylbenz[a]anthracene‐induced frameshift mutations in human APRT (1995) (13)
An unusual adenine phosphoribosyltransferase pseudogene is syntenic with its functional gene and is flanked by highly polymorphic DNAs (1986) (13)
Variants near CHRNB3-CHRNA6 are associated with DSM-5 cocaine use disorder: evidence for pleiotropy (2014) (13)
Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease (2003) (12)
Ethanol activates immune response in lymphoblastoid cells. (2019) (12)
Functional Evaluations of Genes Disrupted in Patients with Tourette’s Disorder (2016) (12)
Loss of heterozygosity analysis in a human fibrosarcoma cell line. (1997) (12)
Genome‐wide association studies of the self‐rating of effects of ethanol (SRE) (2019) (12)
Association of Single Nucleotide Polymorphisms in a Glutamate Receptor Gene ( GRM 8 ) With Theta Power of Event-Related Oscillations and Alcohol Dependence (2008) (11)
Metabolic consequences of cystinuria (2019) (11)
Association of Polygenic Liability for Alcohol Dependence and EEG Connectivity in Adolescence and Young Adulthood (2019) (10)
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. (1998) (10)
CYP2A6 metabolism in the development of smoking behaviors in young adults (2018) (10)
Evolution of the SARS‐CoV‐2 proteome in three dimensions (3D) during the first 6 months of the COVID‐19 pandemic (2021) (10)
A KCNJ6 gene polymorphism modulates theta oscillations during reward processing. (2017) (9)
Genome‐wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward‐related ventral striatum activity in African‐ and European‐Americans (2019) (9)
Whole exome sequencing identifies genes associated with Tourette’s Disorder in multiplex families (2021) (9)
Nonreplication of an association of SGIP1 SNPs with alcohol dependence and resting theta EEG power. (2011) (9)
An efficient and simplified method for producing site-directed mutations by PCR. (1990) (9)
Preparing DNA from blood for genotyping. (2007) (9)
New Jersey Center for Tourette Syndrome Sharing Repository: methods and sample description (2008) (8)
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis. (1992) (8)
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. (1999) (8)
Mouse transgenes in human cells detect specific base substitutions. (1990) (8)
Induction of α-Catenin, Integrin α3, Integrin β6, and PDGF-B by 2,8-Dihydroxyadenine Crystals in Cultured Kidney Epithelial Cells (2002) (8)
A genome wide association study of fast beta EEG in families of European ancestry. (2017) (8)
A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family. (1991) (7)
Sibling comparisons elucidate the associations between educational attainment polygenic scores and alcohol, nicotine and cannabis. (2020) (7)
Denaturing Gradient Gel Analysis of Single‐Base Substitutions at a Mouse Adenine Phosphoribosyltransferase Splice Acceptor Site (1989) (7)
Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree (2021) (7)
Proceedings: Mouse-human somatic cell hybrids utilizing human parental cells containing a (14;22) translocation: assignment of the gene for nucleoside phosphorylase to chromosome 14. (1974) (7)
Proceedings: Assignment of the gene in man for mitochondrial superoxide dismutase (indophenol oxidase-B, tetrameric) to chromosome 6. (1974) (7)
De Novo Coding Variants Are Strongly Associated with Tourette Syndrome (2019) (7)
Assignment of Adenosine Deaminase to Chromosome 20 (1974) (7)
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency (1994) (6)
A GABRA2 polymorphism improves a model for prediction of drinking initiation. (2017) (6)
Evaluating risk for alcohol use disorder: Polygenic risk scores and family history. (2022) (6)
Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice. (2010) (5)
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene (1996) (5)
Lesch-Nyhan syndrome (1979) (5)
Plasmid, phage, and genomic DNA-mediated transfer and expression of prokaryotic and eukaryotic genes in cultured human cells. (1984) (5)
Virtual Boot Camp: COVID‐19 evolution and structural biology (2020) (5)
Positive Selection on Loci Associated with Drug and Alcohol Dependence (2015) (5)
Parsing genetically influenced risk pathways: genetic loci impact problematic alcohol use via externalizing and specific risk (2021) (5)
Identification of Functional Genetic Variants Associated with Alcohol Dependence and Related Phenotypes Using a High-Throughput Assay. (2020) (5)
A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization (1978) (5)
Proceedings: Confirmation of the synteny of the human genes for cytoplasmic isocitrate dehydrogenase and cytoplasmic malate dehydrogenase and assignment to chromosome 2. (1974) (5)
Detection of Point Mutations by Denaturing-Gradient Gel Electrophoresis (1991) (5)
Germline and somatic mutation at the APRT locus of mice and man. (1994) (4)
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells. (1996) (4)
Use of deoxyribonucleic acid probes to test for Yq11 deletions in males with spermatogenic arrest. (1987) (4)
Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations. (2008) (4)
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family (1991) (4)
Genome‐wide admixture mapping of DSM‐IV alcohol dependence, criterion count, and the self‐rating of the effects of ethanol in African American populations (2020) (4)
Assignment of a Selectable Gene: Adenine Phosphoribosyltransferase to Chromosome 16 (1974) (4)
Analysis of in vivo somatic mutations at the APRT locus. (1994) (4)
Gender- and Age-dependent Changes in Kidney Androgen Protein mRNA Expression in a Knockout Mouse Model for Nephrolithiasis (2002) (4)
Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model. (1999) (4)
SirT7 auto-ADP-ribosylation regulates glucose starvation response through macroH2A1.1 (2019) (3)
Allele-Specific Expression and High-Throughput Reporter Assay Reveal Functional Variants in Human Brains with Alcohol Use Disorders (2019) (3)
Preparing DNA from saliva for genotyping. (2007) (3)
Genetic nurture effects for alcohol use disorder (2022) (3)
Molecular characterization of a novel mutation in APRT heterozygotes. (1994) (3)
ERRATUM: Genome‐wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward‐related ventral striatum activity in African‐ and European‐Americans (2019) (3)
Quantitation of human cuprozinc superoxide dismutase (SOD-1) by radioimmunoassay and its possible significance in disease. (1981) (3)
Mutagenesis in vivo in T cells of p21-deficient mice. (2009) (3)
Role of the mismatch repair gene, Msh6, in suppressing genome instability (2008) (3)
Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism (2011) (3)
Arrythmogenic Right Ventricular Dysplasia (2016) (3)
Associations between Suicidal Thoughts and Behaviors and Genetic Liability for Cognitive Performance, Depression, and Risk-Taking in a High-Risk Sample (2021) (2)
The associations between polygenic risk, sensation seeking, social support, and alcohol use in adulthood. (2021) (2)
Preparing DNA from Mammalian sources for genotyping. (2007) (2)
Synaptic mechanism of A118G OPRM1 Gene Variants In Human Neurons (2019) (2)
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells. (2002) (2)
Modelling the single most common SNP in OPRM1 (A118G) using human neurons generated from two sets of independently targeted isogenic stem cell lines (2020) (2)
A human cell-based reporter detects microhomology-mediated end joining. (2012) (2)
A ν-support vector regression based approach for predicting imputation quality (2012) (2)
Proceedings: The genetics of the antiviral state in human cells. (1974) (2)
Identification of a 7-basepair deletion in the adenine phosphoribosyl-transferase gene as a cause of 2,8-dihydroxyadenine urolithiasis (1994) (2)
A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe. (1986) (2)
Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117. (1979) (2)
transcription factor NF-κB, with Alcohol Dependence (2007) (2)
Dosage Transmission Disequilibrium Test (dTDT) for Linkage and Association Detection (2013) (1)
Analysis of APRT mutations by reverse-transcription PCR. (1994) (1)
Different properties of Chinese hamster cell clones resistant to adenine analogs (1977) (1)
A cadherin mutation in Celsr3 linked to Tourette Disorder affects dendritic patterning and excitability of cholinergic interneurons (2022) (1)
SIRT 7 promotes genome integrity by regulating non-homologous end joining DNA repair (2016) (1)
Sex differences in the human peripheral blood transcriptome (2014) (1)
Targeted disruption of the mouse adenine phosphoribosyltransferase (aprt) gene and the production of APRT-deficient mice (1994) (1)
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells. (1986) (1)
SU67POLYGENIC RISK SCORES DERIVED FROM A TOURETTE SYNDROME GWAS PREDICT PRESENCE OF TICS IN THE AVON LONGITUDINAL STUDY OF PARENTS AND CHILDREN (ALSPAC) COHORT (2019) (1)
New Clothes for the Emperor (2002) (1)
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons (2022) (1)
Genetics of sex differentiation. By Ursula Mittwoch. 253 pp. Academic Press, 1973 (1976) (1)
Correlation of Prostate Cancer CHD1 Status with Response to Androgen Deprivation Therapy: a Pilot Study. (2018) (1)
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney. (2010) (1)
Setting priorities for genomic research [2] (multiple letters) (2004) (1)
Investigation of gene–environment interactions in relation to tic severity (2021) (1)
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells (2009) (1)
Reconstitution of an episomal mouse aprt gene as a consequence of recombination (1992) (1)
The development of goals and objectives for a nutrition teaching program. (1984) (1)
IFNgamma Induces Expansion of Hematopoietic Progenitor Cells (2010) (0)
CYSTINE UROLITHIASIS CHARACTERIZED BY MICROCOMPUTED TOMOGRAPHY (µCT) IN A KNOCKOUT MOUSE MODEL OF CYSTINURIA TYPE I (2008) (0)
Exome Sequencing and Genomic Studies To Better Understand Alcohol Dependence (2019) (0)
Proceedings: Assignment of adenosine deaminase to chromosome 20. (1974) (0)
Compositions and Methods for High-Throughput Nucleic Acid (RNA and DNA) analysis and Quality Control (QC) (2020) (0)
Analysis of the promoter region of a cardiac specific phospholipase A{sub 2} gene located at 1p35 (1994) (0)
Molecular Basis of Inherited Disease. (1994) (0)
Genetics of Gilles De La Tourette Syndrome: Accelerating Discoveries Through Large-Scale Collaborative Efforts (2019) (0)
Subject Index Vol. 10, 2002 (2002) (0)
Contents, Vol. 75, 1996 (1996) (0)
IFNgamma Induces Expansion of Hematopoietic Progenitor Cells (36.9) (2010) (0)
Assignment oftheGeneforAdeninePhosphoribosyltransferase toHuman Chromosome16byMouse-HumanSomatic CellHybridization (1974) (0)
Purification and characterization of adenine phosphoribosyltransferase (APRT) from wild-type and 2,6-diaminopurine (DAP) resistant Chinese hamster ovary (CHO) cells (1981) (0)
The Genetic Basis of APRT Deficiency (1993) (0)
SA134POLYGENIC INFLUENCES ON ALCOHOL RELATED NEUROPHYSIOLOGICAL AND NEUROCOGNITIVE PROCESSES ACROSS THE LIFESPAN (2019) (0)
The Detection of Y DNA in Intersex Subjects with Mosaicism for a Y Cell Line (1987) (0)
Biobanking of Human Induced Pluripotent Stem Cells for Psychiatric Research (2018) (0)
Subject Index, Vol. 76, 1997 (1997) (0)
Andersen disease (2019) (0)
SP5 Cell and DNA Repositories in the Twenty-First Century: A Genetics Perspective. (2007) (0)
DNA double‐strand break repair in mouse embryonic stem cells (2007) (0)
Aortic Root to Right Heart Shunts (2009) (0)
Supporting Information Si Text Methods for Cohorts with Categorical Data on Alcohol Intake And (0)
The Aggregate Effect of Dopamine Genes on Dependence Symptoms Among Cocaine Users: Cross-Validation of a Candidate System Scoring Approach (2012) (0)
Contents Vol. 10, 2002 (2002) (0)
Identification of group v phospholipase A2 (GV PLA2) in human neutrophils (PMN): role in E. coli phospholipid hydrolysis (2000) (0)
Bladder dysfunction in cystinuria male mice is associated with apical membrane, cytoskeletal, and epithelial-to-mesenchymal alterations (2010) (0)
Genetic influences vary by age and sex: Trajectories of the association of cholinergic system variants and theta band event related oscillations (2023) (0)
Referees for volume 30 (1992) (0)
2302 CYSTINE ANALOGS AS POTENTIAL THERAPEUTIC AGENTS FOR CYSTINURIA (2012) (0)
University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette (2018) (0)
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome (2023) (0)
Reconst i tut ion o f an ep i somal mouse aprt gene as a consequence o f recombinat ion (0)
Upregulated GIRK2 counteracts ethanol-induced changes in excitability and respiration in human neurons (2023) (0)
Erratum (2016) (0)
The effect of BUdR on experimentally induced teratocarcinogenesis. (1969) (0)
Rare Maternally Inherited Coding Variants on Chromosome X Carry Predominantly Male Risk in Autism, Tourette Syndrome, and Attention-deficit/Hyperactivity Disorder (2022) (0)
241. The Collaborative Study of the genetics of alcoholism: Initial results and future goals (1998) (0)
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
Use of single (4B-2) and repetitive copy (pS4) deoxyribonucleic acid (DNA) probes to characterize translocated Y DNA in a pedigree with recurrent abortion. (1987) (0)
PD32-06 ASSESSMENT OF PHARMACOLOGIC INTERVENTION ON CYSTINE STONE GROWTH USING IN VIVO IMAGING IN A MOUSE MODEL OF CYSTINURIA (2014) (0)
Cancer cells induce a self-amplifying loop of splenic myelopoiesis in the mouse (153.30) (2011) (0)
Three Secretory Phospholipase A2 Genes That Map to Human Chromosome 1P35â€”36 Are Not Mutated in Individuals with Attenuated Adenomatous (2006) (0)
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks (2013) (0)
Abstract 2233: Rearrangement of ERG and CHD1 genes in prostate cancer as a marker of tumor heterogeneity (2014) (0)
Elevated levels of neutrophil 4-hydroxynonenal in canine neuronal ceroid-lipofuscinosis and human immortalized lymphocytes of NCL patients (1993) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (2012) (0)
250 Alzheimer disease national cell repository (1996) (0)
Cupro-zinc superoxide dismutase: A possible biologic marker for alcohol abuse (1980) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) (2012) (0)
Referees for volume 30 (2004) (0)
Polygenic and environmental determinants of tics in the Avon Longitudinal Study of Parents and Children cohort (2021) (0)
Identification of polymorphic markers flanking the human APRT gene. (1994) (0)
Ethanol-mediated activation of the NLRP3 inflammasome in iPS cells and iPS cells-derived neural progenitor cells (2016) (0)
Association of parental divorce, discord, and polygenic risk with children’s alcohol initiation and lifetime risk for alcohol use disorder (2023) (0)
Proceedings: Assignment of a selectable gene: adenine phosphoribosyltransferase to chromosme 16. (1974) (0)
Slc3a1-knockout mouse as a natural model of bladder outlet obstruction (2009) (0)
The common CHRNB3-CHRNA6 variant rs13273442 is a genetic risk factor specifically for nicotine dependence: (2013) (0)
Inflammatory Bowel Disease: A Guide for Patients and Their Families by Stephen B. Hanauer and Joseph B. Kirsner (with contributions by Barbara S. Kirschner and Janice C. Colwell) Raven Press, New York, 1985, 206 pp., $15.95. (1986) (0)
Genetic and Neurophysiological Correlates of the Age of Onset of Alcohol Use Disorders in Adolescents and Young Adults (2013) (0)
Comparison of NGS solutions for rapid and cost-effective research using degraded FFPE and cancer biobanked specimens with limited quantity (2014) (0)
Advances in Brief Solid Tissues Removed from Atm Homozygous Deficient Mice Do Not Exhibit a Mutator Phenotype for Second-Step Autosomal Mutations 1 (1999) (0)
DISTINCT ROLES FOR OSTEOPONTIN IN KIDNEY STONE DISEASE (2002) (0)
APRT deficient mice as an in vivo mammalian model for mutation (1997) (0)
Age Dependent Effect on Cellular Phenotype with Loss of Prdx1 (2010) (0)
Preferential Localization oftheLimb-Girdle Muscular Dystrophy (1995) (0)
Specificity of a cocaine-derived dopaminergic genetic risk score (2010) (0)
Adenomatous Polyposis, Familial (2009) (0)
Preparing DNA from cell pellets for genotyping. (2007) (0)
Subject Index, Vol. 75, 1996 (1996) (0)
Advances in Brief Biallelic Methylation and Silencing of Mouse Aprt in Normal Kidney Cells 1 (2000) (0)
?‐LIPOIC ACID SUPPRESSES CYSTINE STONE FORMATION IN A GENETIC MOUSE MODEL OF CYSTINURIA: MP12‐12 (2017) (0)
Detecting Point Mutations by Denaturing-Gradient Gel Electrophoresis (2000) (0)

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