Schizophrenia and genetics: the end of an illusion
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| Format: | Book |
| Language: | English |
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New York ; London
Routledge
2023
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| Edition: | First English edition |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis Klappentext |
| Physical Description: | xvi, 198 Seiten Illustrationen |
| ISBN: | 9781032275505 9781032275529 |
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| adam_text | Contents List of tables List of figures Preface Acknowledgments 1 Introduction Differing Conceptions of “Schizophrenia” 3 Kraepelin and Bleuler 3 Psychiatric Descriptions of Schizophrenia 4 Criticism of the “Schizophrenia” Concept 5 Psychiatric Genetics 5 Genetic Counseling 6 Reductionism 7 Presidential Statement 7 Schizophrenia as a “Multifactorial Complex Disorder” 8 Environmental Factors 8 Further Problems with Genetic Explanations of Schizophrenia 10 Most Diagnosed People Have No Family History of Psychosis 10 Low Reproduction Rates 10 Is “Schizophrenia” a Valid Disorder that Can Be Reliably Identified? 11 Brain Disease Theories 13 The Replication Crisis in Behavioral Research 14 Questionable Research Practices (QRPs) 15 P-hacking 16 HARKing and Fishing Expeditions 16 The Need for Research Preregistration in the Social and Behavioral Sciences 17 xii xiii xiv xvi
vi Contents Summary and Conclusions Notes 19 2 18 Schizophrenia Molecular Genetic Research: Running on Empty? “Finding and Losing” Schizophrenia Genes 24 DSM-5 and Anticipated Gene Discoveries 25 The “Nonreplication Curse” in Psychiatric Genetics 25 Heritability: “One of the Most Misleading Terms in the History of Science” 26 Not a “Nature-Nurture Ratio” 27 Illustrating the “Heritability Fallacy” 28 Missing” Heritability 30 Linkage and Candidate Gene Studies 30 Linkage Studies 30 The Candidate Gene Era in Psychiatry 32 How Failure Happened 33 Schizophrenia Candidate Gene Discovery False Alarms 34 Critics in the Candidate Gene Era were Right 35 Toward a “Null Field” of Science? 36 Sociologists Examine Psychiatric Genetics and “Complexity” 37 The Genome-Wide Association Study and Polygenic Risk Score Era 37 Genome-wide Association Studies 37 The Psychiatric Genetics Consortium 38 2013 “Cross Disorder Group” study 39 2014 Schizophrenia GWAS 39 The 2016 “Synaptic pruning” study 40 2022 Schizophrenia GWAS 40 Criticism of Schizophrenia GWAS Research 40 Population Stratification 41 Questionable Assumptions 42 Questionable Research Practices 42 Increasing the Sample Size and Potential Conflicts of Interest 43 Other GWAS Claims 44 Polygenic Risk Score Studies 44 Criticism of PRS 45 Summary and Conclusions 48 Notes 49 24
Contents 3 Schizophrenia Family Studies Family Pedigrees and Family Studies 57 “Runs in the Family” * Genetic 58 Ernst Rüdin and the “Munich School” of Psychiatric Genetics 59 The First Schizophrenia Family Study 59 Rudin’s Suppressed Family Study of “Manic-Depressive Insanity” 60 Rüdin and German National Socialism 60 From Sterilization to Killing 61 Psychiatric Genetic Accounts of Rüdin 62 Kallmann’s Study 63 Modern Family Studies 64 Irving Gottesman’s Schizophrenia Risk “Figure 10” 65 Hidden Valley Road 66 The Galvin Family and Schizophrenia 66 Enter Robert Freedman and Lynn DeLisi 68 The CHRNA7 Gene 68 The SHANK2 Gene 69 Genetic Insider Accounts 70 Summary and Conclusions 71 Notes 71 4 A Critique of the Classical Twin Method The “Equal Environment Assumption” (EEA) 77 Defining the EEA 79 Identity Confusion and Attachment 80 Consensus: MZ and DZ Environments Are Different 80 The Model-Fitting Technique 80 Eight Arguments in Defense of the EEA 81 Argument A: “Twins create more similar environments for themselves because they are more similar genetically.” 81 Argument B: “MZ and DZ environments must be shown to differ on trait-relevant dimensions.” 82 Argument C: “Assumption violations cancel each other out in favor of heritability. ” 83 Argument D: MZ behavioral correlations are similar whether twins are reared together or apart. ” 84 Argument E: “The validity of the EEA can be demonstrated mathematically.” 84 vii 57
viii Contents Argument F: “Factors causing MZ behavioral similarities and differences might cancel each other out in favor of genetics. ” 85 Argument G: “The validity of the twin method should be assessed in the context of converging evidence from other types of research.” 85 Argument H: “Violations of the EEA do not invalidate the twin method, but merely lead to inflated heritability estimates. ” 85 A 2015 Twin Study Meta-Analysis 86 The “EEA-Test” Studies 86 Four Major Problem Areas 87 Problem #1 : EEA-test Studies Were Subject to Problems Identified in the Replication Crisis 87 Problem #2: Arbitrarily Different Evaluations of Family Studies and Twin Studies 88 Problem #3: Acceptance of Controversial Psychometric, Psychiatric Genetic, and Behavioral Genetic Assumptions and Methods 88 Problem #4: Narrow Focus on Selected Comparisons 88 Segal and Colleagues’ Study 89 The Augmented Classical Twin Design 89 Summary and Conclusions 90 Notes 91 5 Schizophrenia Twin Research Seventeen Schizophrenia Twin Studies 96 No Valid Evidence that Schizophrenia is Caused by Genetic Factors 98 Fosse and Colleagues’ 2015 Schizophrenia-Specific EEA-Test Study 99 Sullivan and Colleagues’ 2003 Meta-Analysis 100 Overlooked Findings 100 Earlier Twin Researchers and the EEA 100 Rikke Hilker and Colleagues’ 2017 Study 101 The Genain Quadruplets: “A Study In Child Abuse” 102 The Courtship and Marriage of Henry and Gertrude Genain 103 Preschool/Elementary School 103 95
Contents ix Junior High School Years 104 High School Years 104 Post High School Years 105 Rosenthal’s Assessment 105 Folie à Deux, Folie à Quatre 107 Later Analyses 107 A Pulitzer Prize Winner Gets the Facts Wrong 109 Schizophrenia Twin and Genetic Research Did Not Begin in the 1970s 110 “Fleets” of Nonexistent 1980s Schizophrenia Twin Studies 110 Ken Burns’ Documentary 111 Other Schizophrenia Twin Designs 112 The Offspring of Discordant MZ Pairs Design 112 Twins Reared Apart 113 Summary and Conclusions 114 Notes 115 6 Schizophrenia Adoption Research Separation of Genes and Environment? 122 Abandoned Children 122 Range Restriction and Representativeness 123 The Schizophrenia Adoption Studies 123 Leonard Heston’s U.S. Oregon Study 123 The Danish-American Studies 124 The Kety-led Study 126 The 1968 Records-based Copenhagen Study 126 The 1975 Interview-based Copenhagen Study 127 The Provincial Study 127 The Rosenthal-led Study 128 The Tienari-led Finnish Study 129 The Lichtenstein-led Swedish Study 129 Selective Placement B ias 130 Denmark 130 Oregon (USA) 131 Finland and Sweden 131 Major Problem Areas in the Danish-American Adoption Studies 132 The 1968 Danish-American Diagnostic Process 132 The Schizophrenia Spectrum Concept 133 121
x Contents Necessity of Broadening the Definition of Schizophrenia 136 The Arbitrary Inclusion of B3 “Borderline Schizophrenia ” in the Spectrum 136 Combining, Including, and Excluding Diagnostic Groups 137 Category C 138 “Uncertain” Diagnoses in the Kety-led Copenhagen Study (Dl, D2, and D3) 138 Diagnoses Based in Part on Sexual Orientation 139 Major Problem Areas in the Kety-led Copenhagen Study (1968-1975) 139 Changing the Research Design After the Results Came In 139 Lidz and Blatt 142 Kety’s 1983 Position 143 Interviews and “Pseudointerviews” in the Kety-led 1975 Study 144 No Significant Elevation of Schizophrenia in Either 1968 or 1975 145 High Rate of Spectrum Diagnoses Among Control Biological Relatives 146 Assumption Violation 146 The “Compelling” Biological Paternal Half-Sibling Comparison Was Not Statistically Significant 147 Major Problem Areas in the Kety-led Provincial Study (1978-1994) 150 Shifting Definitions of Schizophrenia 150 Kety’s Decision to Reduce the Size of the Provincial Study Index and Control Groups 151 The Provincial Study and the 1994 Kendler et al. Analysis 152 Other Problem Areas 152 Major Problem Areas in the Rosenthal-led Study (1968-1978) 153 No Evidence in Support of Genetics in 1968 153 Collecting Cases Past the 1968 Data-Collection Stop Point 154 Counting “Manic-Depression” as a Schizophrenia Spectrum Disorder 155 Final Result of the Rosenthal-led Study: Negative 156
Contents xi Summary of Questionable Research Practices Used in the Kety-led and Rosenthal-led Studies 156 Misleading Accounts of Schizophrenia Adoption Research 157 Citing Nonexistent Reared-Apart (Adoptive) Twin Studies 158 Incorrect Descriptions of the Comparison Groups Used in the Kety-led Studies 159 Lynn DeLisi, Robert Freedman, and Robert Kolker 160 Past President of the APA 161 Summary and Conclusions 162 Notes 164 7 Schizophrenia and Genetics: Conclusions and Future Directions 175 Chapter Summaries 176 Psychiatric Genetics: A Future “Null Field”? 178 Alternative Understandings of “Schizophrenia” and Psychosis 179 Thomas Szasz 180 David Hill 181 John Read 181 The Power Threat Meaning Framework (PTMF) 181 Implications for Clinical Practice and Prevention 182 Primary Prevention 182 Alternative Intervention Methods and Approaches 184 Soteria House 184 The Hearing Voices Movement (HVM) 185 Open Dialogue 186 Cognitive Behavioral Therapy for Psychosis (CBTp) 186 A World without Schizophrenia Genes 187 Notes 189 Index 191
Schizophrenia is a widely investigated psychiatric condition, and though there have been claims of gene associations, decades of molecular genetic studies have failed to produce confirmed causative genes. In this book, Joseph focuses on the methodological shortcomings of schizophrenia genetic research. His findings have major implications not only on how we understand the causes of schizophrenia and other psychiatric conditions, but also on how we understand the causes of human behavior in general. Chapters explore the differing theoretical concepts of schizophrenia, molecular genetic research around schizophrenia, family, twin, and adoption studies, and non-medical prevention and intervention strategies. Prominent researchers and studies in the field are discussed and critiqued comprehensively throughout. This book is essential reading for psychiatrists, psychologists, behavioral scientists, and anyone interested in the causes of human behavior. Jay Joseph, Psy.D., is a clinical psychologist practicing in the San Francisco Bay Area. He is the author of three previous books, most recently The Trouble with Twin Studies: A Reassessment of Twin Research in the Social and Behavioral Sciences.
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Contents List of tables List of figures Preface Acknowledgments 1 Introduction Differing Conceptions of “Schizophrenia” 3 Kraepelin and Bleuler 3 Psychiatric Descriptions of Schizophrenia 4 Criticism of the “Schizophrenia” Concept 5 Psychiatric Genetics 5 Genetic Counseling 6 Reductionism 7 Presidential Statement 7 Schizophrenia as a “Multifactorial Complex Disorder” 8 Environmental Factors 8 Further Problems with Genetic Explanations of Schizophrenia 10 Most Diagnosed People Have No Family History of Psychosis 10 Low Reproduction Rates 10 Is “Schizophrenia” a Valid Disorder that Can Be Reliably Identified? 11 Brain Disease Theories 13 The Replication Crisis in Behavioral Research 14 Questionable Research Practices (QRPs) 15 P-hacking 16 HARKing and Fishing Expeditions 16 The Need for Research Preregistration in the Social and Behavioral Sciences 17 xii xiii xiv xvi
vi Contents Summary and Conclusions Notes 19 2 18 Schizophrenia Molecular Genetic Research: Running on Empty? “Finding and Losing” Schizophrenia Genes 24 DSM-5 and Anticipated Gene Discoveries 25 The “Nonreplication Curse” in Psychiatric Genetics 25 Heritability: “One of the Most Misleading Terms in the History of Science” 26 Not a “Nature-Nurture Ratio” 27 Illustrating the “Heritability Fallacy” 28 "Missing” Heritability 30 Linkage and Candidate Gene Studies 30 Linkage Studies 30 The Candidate Gene Era in Psychiatry 32 How Failure Happened 33 Schizophrenia Candidate Gene Discovery False Alarms 34 Critics in the Candidate Gene Era were Right 35 Toward a “Null Field” of Science? 36 Sociologists Examine Psychiatric Genetics and “Complexity” 37 The Genome-Wide Association Study and Polygenic Risk Score Era 37 Genome-wide Association Studies 37 The Psychiatric Genetics Consortium 38 2013 “Cross Disorder Group” study 39 2014 Schizophrenia GWAS 39 The 2016 “Synaptic pruning” study 40 2022 Schizophrenia GWAS 40 Criticism of Schizophrenia GWAS Research 40 Population Stratification 41 Questionable Assumptions 42 Questionable Research Practices 42 Increasing the Sample Size and Potential Conflicts of Interest 43 Other GWAS Claims 44 Polygenic Risk Score Studies 44 Criticism of PRS 45 Summary and Conclusions 48 Notes 49 24
Contents 3 Schizophrenia Family Studies Family Pedigrees and Family Studies 57 “Runs in the Family” * Genetic 58 Ernst Rüdin and the “Munich School” of Psychiatric Genetics 59 The First Schizophrenia Family Study 59 Rudin’s Suppressed Family Study of “Manic-Depressive Insanity” 60 Rüdin and German National Socialism 60 From Sterilization to Killing 61 Psychiatric Genetic Accounts of Rüdin 62 Kallmann’s Study 63 Modern Family Studies 64 Irving Gottesman’s Schizophrenia Risk “Figure 10” 65 Hidden Valley Road 66 The Galvin Family and Schizophrenia 66 Enter Robert Freedman and Lynn DeLisi 68 The CHRNA7 Gene 68 The SHANK2 Gene 69 Genetic Insider Accounts 70 Summary and Conclusions 71 Notes 71 4 A Critique of the Classical Twin Method The “Equal Environment Assumption” (EEA) 77 Defining the EEA 79 Identity Confusion and Attachment 80 Consensus: MZ and DZ Environments Are Different 80 The Model-Fitting Technique 80 Eight Arguments in Defense of the EEA 81 Argument A: “Twins create more similar environments for themselves because they are more similar genetically.” 81 Argument B: “MZ and DZ environments must be shown to differ on trait-relevant dimensions.” 82 Argument C: “Assumption violations cancel each other out in favor of heritability. ” 83 Argument D: "MZ behavioral correlations are similar whether twins are reared together or apart. ” 84 Argument E: “The validity of the EEA can be demonstrated mathematically.” 84 vii 57
viii Contents Argument F: “Factors causing MZ behavioral similarities and differences might cancel each other out in favor of genetics. ” 85 Argument G: “The validity of the twin method should be assessed in the context of converging evidence from other types of research.” 85 Argument H: “Violations of the EEA do not invalidate the twin method, but merely lead to inflated heritability estimates. ” 85 A 2015 Twin Study Meta-Analysis 86 The “EEA-Test” Studies 86 Four Major Problem Areas 87 Problem #1 : EEA-test Studies Were Subject to Problems Identified in the Replication Crisis 87 Problem #2: Arbitrarily Different Evaluations of Family Studies and Twin Studies 88 Problem #3: Acceptance of Controversial Psychometric, Psychiatric Genetic, and Behavioral Genetic Assumptions and Methods 88 Problem #4: Narrow Focus on Selected Comparisons 88 Segal and Colleagues’ Study 89 The Augmented Classical Twin Design 89 Summary and Conclusions 90 Notes 91 5 Schizophrenia Twin Research Seventeen Schizophrenia Twin Studies 96 No Valid Evidence that Schizophrenia is Caused by Genetic Factors 98 Fosse and Colleagues’ 2015 Schizophrenia-Specific EEA-Test Study 99 Sullivan and Colleagues’ 2003 Meta-Analysis 100 Overlooked Findings 100 Earlier Twin Researchers and the EEA 100 Rikke Hilker and Colleagues’ 2017 Study 101 The Genain Quadruplets: “A Study In Child Abuse” 102 The Courtship and Marriage of Henry and Gertrude Genain 103 Preschool/Elementary School 103 95
Contents ix Junior High School Years 104 High School Years 104 Post High School Years 105 Rosenthal’s Assessment 105 Folie à Deux, Folie à Quatre 107 Later Analyses 107 A Pulitzer Prize Winner Gets the Facts Wrong 109 Schizophrenia Twin and Genetic Research Did Not Begin in the 1970s 110 “Fleets” of Nonexistent 1980s Schizophrenia Twin Studies 110 Ken Burns’ Documentary 111 Other Schizophrenia Twin Designs 112 The Offspring of Discordant MZ Pairs Design 112 Twins Reared Apart 113 Summary and Conclusions 114 Notes 115 6 Schizophrenia Adoption Research Separation of Genes and Environment? 122 Abandoned Children 122 Range Restriction and Representativeness 123 The Schizophrenia Adoption Studies 123 Leonard Heston’s U.S. Oregon Study 123 The Danish-American Studies 124 The Kety-led Study 126 The 1968 Records-based Copenhagen Study 126 The 1975 Interview-based Copenhagen Study 127 The Provincial Study 127 The Rosenthal-led Study 128 The Tienari-led Finnish Study 129 The Lichtenstein-led Swedish Study 129 Selective Placement B ias 130 Denmark 130 Oregon (USA) 131 Finland and Sweden 131 Major Problem Areas in the Danish-American Adoption Studies 132 The 1968 Danish-American Diagnostic Process 132 The Schizophrenia Spectrum Concept 133 121
x Contents Necessity of Broadening the Definition of Schizophrenia 136 The Arbitrary Inclusion of B3 “Borderline Schizophrenia ” in the Spectrum 136 Combining, Including, and Excluding Diagnostic Groups 137 Category C 138 “Uncertain” Diagnoses in the Kety-led Copenhagen Study (Dl, D2, and D3) 138 Diagnoses Based in Part on Sexual Orientation 139 Major Problem Areas in the Kety-led Copenhagen Study (1968-1975) 139 Changing the Research Design After the Results Came In 139 Lidz and Blatt 142 Kety’s 1983 Position 143 Interviews and “Pseudointerviews” in the Kety-led 1975 Study 144 No Significant Elevation of Schizophrenia in Either 1968 or 1975 145 High Rate of Spectrum Diagnoses Among Control Biological Relatives 146 Assumption Violation 146 The “Compelling” Biological Paternal Half-Sibling Comparison Was Not Statistically Significant 147 Major Problem Areas in the Kety-led Provincial Study (1978-1994) 150 Shifting Definitions of Schizophrenia 150 Kety’s Decision to Reduce the Size of the Provincial Study Index and Control Groups 151 The Provincial Study and the 1994 Kendler et al. Analysis 152 Other Problem Areas 152 Major Problem Areas in the Rosenthal-led Study (1968-1978) 153 No Evidence in Support of Genetics in 1968 153 Collecting Cases Past the 1968 Data-Collection Stop Point 154 Counting “Manic-Depression” as a Schizophrenia Spectrum Disorder 155 Final Result of the Rosenthal-led Study: Negative 156
Contents xi Summary of Questionable Research Practices Used in the Kety-led and Rosenthal-led Studies 156 Misleading Accounts of Schizophrenia Adoption Research 157 Citing Nonexistent Reared-Apart (Adoptive) Twin Studies 158 Incorrect Descriptions of the Comparison Groups Used in the Kety-led Studies 159 Lynn DeLisi, Robert Freedman, and Robert Kolker 160 Past President of the APA 161 Summary and Conclusions 162 Notes 164 7 Schizophrenia and Genetics: Conclusions and Future Directions 175 Chapter Summaries 176 Psychiatric Genetics: A Future “Null Field”? 178 Alternative Understandings of “Schizophrenia” and Psychosis 179 Thomas Szasz 180 David Hill 181 John Read 181 The Power Threat Meaning Framework (PTMF) 181 Implications for Clinical Practice and Prevention 182 Primary Prevention 182 Alternative Intervention Methods and Approaches 184 Soteria House 184 The Hearing Voices Movement (HVM) 185 Open Dialogue 186 Cognitive Behavioral Therapy for Psychosis (CBTp) 186 A World without Schizophrenia Genes 187 Notes 189 Index 191
Schizophrenia is a widely investigated psychiatric condition, and though there have been claims of gene "associations," decades of molecular genetic studies have failed to produce confirmed causative genes. In this book, Joseph focuses on the methodological shortcomings of schizophrenia genetic research. His findings have major implications not only on how we understand the causes of schizophrenia and other psychiatric conditions, but also on how we understand the causes of human behavior in general. Chapters explore the differing theoretical concepts of schizophrenia, molecular genetic research around schizophrenia, family, twin, and adoption studies, and non-medical prevention and intervention strategies. Prominent researchers and studies in the field are discussed and critiqued comprehensively throughout. This book is essential reading for psychiatrists, psychologists, behavioral scientists, and anyone interested in the causes of human behavior. Jay Joseph, Psy.D., is a clinical psychologist practicing in the San Francisco Bay Area. He is the author of three previous books, most recently The Trouble with Twin Studies: A Reassessment of Twin Research in the Social and Behavioral Sciences. |
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| spelling | Joseph, Jay 1959- Verfasser (DE-588)1146509898 aut Schizophrenia and genetics the end of an illusion Jay Joseph First English edition New York ; London Routledge 2023 xvi, 198 Seiten Illustrationen txt rdacontent n rdamedia nc rdacarrier Schizophrenie (DE-588)4052527-2 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Schizophrenie (DE-588)4052527-2 s Genetik (DE-588)4071711-2 s DE-604 Erscheint auch als Online-Ausgabe 978-1-003-29327-9 Erscheint auch als Online-Ausgabe 978-1-000-83011-8 Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033961825&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033961825&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Joseph, Jay 1959- Schizophrenia and genetics the end of an illusion Schizophrenie (DE-588)4052527-2 gnd Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4052527-2 (DE-588)4071711-2 |
| title | Schizophrenia and genetics the end of an illusion |
| title_auth | Schizophrenia and genetics the end of an illusion |
| title_exact_search | Schizophrenia and genetics the end of an illusion |
| title_exact_search_txtP | Schizophrenia and genetics the end of an illusion |
| title_full | Schizophrenia and genetics the end of an illusion Jay Joseph |
| title_fullStr | Schizophrenia and genetics the end of an illusion Jay Joseph |
| title_full_unstemmed | Schizophrenia and genetics the end of an illusion Jay Joseph |
| title_short | Schizophrenia and genetics |
| title_sort | schizophrenia and genetics the end of an illusion |
| title_sub | the end of an illusion |
| topic | Schizophrenie (DE-588)4052527-2 gnd Genetik (DE-588)4071711-2 gnd |
| topic_facet | Schizophrenie Genetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033961825&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033961825&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT josephjay schizophreniaandgeneticstheendofanillusion |