Anne S Bassett

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. doi request reprint Evaluating genetic counseling for individuals with schizophrenia in the molecular age
    Gregory Costain
    To whom correspondence should be addressed 33 Russell Street, Room 1100, Toronto, Ontario, Canada M5S 2S1 tel 416 535 8501 x2731, fax 416 535 7199, E mail
    Schizophr Bull 40:78-87. 2014
  2. doi request reprint Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age
    Gregory Costain
    To whom correspondence should be addressed Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, Ontario, Canada M5S 2S1 tel 1 416 535 8501 ext 2731, fax 1 416 535 7199, E mail
    Schizophr Bull 40:88-99. 2014
  3. pmc The schizophrenia phenotype in 22q11 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, 1001 Queen Street West, Toronto, Ontario, M6J 1H4 Canada
    Am J Psychiatry 160:1580-6. 2003
  4. pmc Clinical features of 78 adults with 22q11 Deletion Syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet A 138:307-13. 2005
  5. pmc Premature death in adults with 22q11.2 deletion syndrome
    A S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Ontario, Canada
    J Med Genet 46:324-30. 2009
  6. pmc Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Biol Psychiatry 61:1135-40. 2007
  7. pmc Clinically detectable copy number variations in a Canadian catchment population of schizophrenia
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    J Psychiatr Res 44:1005-9. 2010
  8. pmc Schizophrenia and 22q11.2 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Curr Psychiatry Rep 10:148-57. 2008
  9. pmc Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Hum Mol Genet 17:4045-53. 2008
  10. pmc Schizophrenia and genetics: new insights
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Curr Psychiatry Rep 4:307-14. 2002

Detail Information

Publications59

  1. doi request reprint Evaluating genetic counseling for individuals with schizophrenia in the molecular age
    Gregory Costain
    To whom correspondence should be addressed 33 Russell Street, Room 1100, Toronto, Ontario, Canada M5S 2S1 tel 416 535 8501 x2731, fax 416 535 7199, E mail
    Schizophr Bull 40:78-87. 2014
    ..The findings may help facilitate development of a contemporary genetic counseling process that could optimize outcomes in the nascent field of evidence-based psychiatric genetic counseling. ..
  2. doi request reprint Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age
    Gregory Costain
    To whom correspondence should be addressed Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, Ontario, Canada M5S 2S1 tel 1 416 535 8501 ext 2731, fax 1 416 535 7199, E mail
    Schizophr Bull 40:88-99. 2014
    ..The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community. ..
  3. pmc The schizophrenia phenotype in 22q11 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, 1001 Queen Street West, Toronto, Ontario, M6J 1H4 Canada
    Am J Psychiatry 160:1580-6. 2003
    ..Individuals with 22qDS are at genetically high risk for schizophrenia...
  4. pmc Clinical features of 78 adults with 22q11 Deletion Syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet A 138:307-13. 2005
    ..Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms...
  5. pmc Premature death in adults with 22q11.2 deletion syndrome
    A S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Ontario, Canada
    J Med Genet 46:324-30. 2009
    ..Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited...
  6. pmc Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Biol Psychiatry 61:1135-40. 2007
    ..COMT is within the region commonly deleted in 22q11 deletion syndrome (22q11DS), a syndrome with high prevalence of schizophrenia. We examined the role of COMT in schizophrenia-related expression in 22q11DS...
  7. pmc Clinically detectable copy number variations in a Canadian catchment population of schizophrenia
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    J Psychiatr Res 44:1005-9. 2010
    ..Identifying large, rare CNVs (particularly 22q11.2 deletions) can lead to significant changes in management, follow-up, and genetic counselling that are helpful to the patient, family, and clinicians...
  8. pmc Schizophrenia and 22q11.2 deletion syndrome
    Anne S Bassett
    Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Curr Psychiatry Rep 10:148-57. 2008
    ..22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia...
  9. pmc Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Hum Mol Genet 17:4045-53. 2008
    ..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions...
  10. pmc Schizophrenia and genetics: new insights
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Curr Psychiatry Rep 4:307-14. 2002
    ..The progress to date suggests that understanding of a neurodevelopmental pathway from genetic susceptibility to schizophrenia will soon be fundamentally altered by molecular genetic advances in this complex disease...
  11. pmc Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell St, Toronto, Ontario, Canada
    Am J Psychiatry 167:899-914. 2010
    ....
  12. ncbi request reprint Genetic insights into the neurodevelopmental hypothesis of schizophrenia
    A S Bassett
    Schizophrenia Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Schizophr Bull 27:417-30. 2001
    ..In this article, we propose a genetic model of etiopathogenesis that is consistent both with a modified neurodevelopmental hypothesis and our current knowledge about schizophrenia and molecular genetics...
  13. pmc Genetic insights into schizophrenia
    A S Bassett
    Department of Psychiatry, University of Toronto, Ontario
    Can J Psychiatry 46:131-7. 2001
    ..To outline new insights into the genetic etiology of schizophrenia...
  14. pmc Is schizophrenia linked to chromosome 1q?
    Anne S Bassett
    Department of Psychiatry, University of Torontoand Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Science 298:2277; author reply 2277. 2002
  15. pmc Early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition
    Janice A Husted
    School of Public Health and Health Systems, University of Waterloo, Waterloo, Ontario, Canada
    Schizophr Res 137:166-8. 2012
    ..55 (1.01, 2.38)). The results provide further support that early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition...
  16. pmc Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome
    Rosanna Weksberg
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, M5G 1X8, Toronto, ON, Canada
    Hum Genet 120:837-45. 2007
    ..Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS...
  17. pmc Childhood trauma and genetic factors in familial schizophrenia associated with the NOS1AP gene
    Janice A Husted
    Department of Health Studies and Gerontology, University of Waterloo, Waterloo, Ontario, Canada
    Schizophr Res 121:187-92. 2010
    ..61, 11.91, respectively). The results suggest that childhood trauma is associated with expression of schizophrenia independent of measured genetic susceptibility and may be a candidate for gene-environment research using genetic variants...
  18. pmc Childhood head injury and expression of schizophrenia in multiply affected families
    Philip AbdelMalik
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada M6J 1H4
    Arch Gen Psychiatry 60:231-6. 2003
    ..We investigated whether mild head injury during brain maturation plays a role in the expression of schizophrenia in multiply affected families...
  19. doi request reprint Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications
    Nancy J Butcher
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada2Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada
    JAMA Neurol 70:1359-66. 2013
    ..2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition...
  20. pmc 1q21.1 Microduplication expression in adults
    Alessia Dolcetti
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Genet Med 15:282-9. 2013
    ..Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling...
  21. pmc Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
    Candice K Silversides
    Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada
    PLoS Genet 8:e1002843. 2012
    ..Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models...
  22. doi request reprint Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
    Gregory Costain
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    J Med Genet 48:819-24. 2011
    ..2 deletion is found to have been inherited, usually from an affected mother. Serious neuropsychiatric conditions that are commonly associated features of 22q11.2DS could disproportionately affect reproductive success in males...
  23. pmc Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease
    Wai Lun Alan Fung
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Int J Cardiol 131:51-8. 2008
    ..We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and related conotruncal anomalies at highest risk for 22q11.2DS...
  24. pmc Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
    Eva W C Chow
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
    Schizophr Res 87:270-8. 2006
    ..We hypothesized that in adults with 22qDS the neurocognitive profiles would differ between those with and without schizophrenia...
  25. pmc Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus
    Eva W C Chow
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Canada
    Am J Psychiatry 168:522-9. 2011
    ..2 deletion syndrome, as for schizophrenia in the general population, would be gray matter volumetric deficits, especially in the temporal lobes...
  26. pmc Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome
    Jodi Ann M Swaby
    Toronto Congenital Cardiac Centre for Adults, University of Toronto, Peter Munk Cardiac Centre, University Health Network Toronto General Hospital, Ontario, Canada
    Am J Cardiol 107:466-71. 2011
    ..These findings have potential implications for the genetic counseling of families of those with 22q11DS and support the notion that interacting genetic variants might contribute to the variable expression of 22q11DS...
  27. doi request reprint Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Hum Mol Genet 22:2055-66. 2013
    ..Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions...
  28. doi request reprint Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
    Gregory Costain
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada M5S 2S1
    Hum Mol Genet 22:4485-501. 2013
    ..7-fold increase, P = 0.0060). These findings suggest consideration of a potential role for clinical microarray testing in schizophrenia, as is now the suggested standard of care for related developmental disorders like autism. ..
  29. pmc Functional outcomes of adults with 22q11.2 deletion syndrome
    Nancy J Butcher
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Genet Med 14:836-43. 2012
    ..There are limited data on adult functioning in 22q11.2 deletion syndrome...
  30. pmc A method for accurate detection of genomic microdeletions using real-time quantitative PCR
    Rosanna Weksberg
    Program in Genetics and Genomic Biology, The Research Institute, The Hospital for Sick Children, Toronto, Canada
    BMC Genomics 6:180. 2005
    ....
  31. pmc Heritability of neurocognitive traits in familial schizophrenia
    Janice A Husted
    Department of Health Studies and Gerontology, University of Waterloo, Waterloo, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:845-53. 2009
    ..Composite measures of memory or processing speed may be heritable phenotypes useful for studies of neurocognition...
  32. pmc 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review
    Gregory Costain
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Int J Cardiol 146:134-9. 2011
    ..The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development...
  33. pmc Reduced gray matter in the anterior cingulate gyrus in familial schizophrenia: a preliminary report
    Gregory Costain
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Schizophr Res 122:81-4. 2010
    ..These results suggest that the changes are primarily due to genetic risk and not illness effects, and may represent an intermediate phenotype...
  34. pmc Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome
    Eva W C Chow
    Department of Psychiatry, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Biol Psychiatry 51:208-15. 2002
    ..In the current study, we used magnetic resonance imaging to characterize the structural brain abnormalities found in adults who have both 22q11 Deletion Syndrome and schizophrenia...
  35. doi request reprint Premorbid adjustment and schizophrenia in individuals with 22q11.2 deletion syndrome
    Tracy Yuen
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Schizophr Res 151:221-5. 2013
    ..2DS) are at heightened risk of developing schizophrenia. The present study examined the relationship between adult-onset schizophrenia and social and academic functioning across childhood and early adolescent development in 22q11.2DS...
  36. pmc 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness
    Nicole Martin
    Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada
    J Genet Couns 21:825-34. 2012
    ..These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients...
  37. pmc Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot
    Sara Piran
    Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network, Division of Cardiology, University of Toronto, Toronto, Canada
    Am Heart J 161:131-7. 2011
    ..Of the few known causes, 22q11.2 deletion syndrome (22q11DS) is the most common. We sought to define other clinical subgroups by focusing on cardiac and extracardiac features...
  38. pmc Schizophrenia in an adult with 6p25 deletion syndrome
    O Caluseriu
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet A 140:1208-13. 2006
    ..Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation...
  39. doi request reprint Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
    Evelyn Ning Man Cheung
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Genet Med 16:40-4. 2014
    ..These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions.Genet Med 16 1, 40-44. ..
  40. pmc Partial trisomy chromosome 5 cosegregating with schizophrenia
    A S Bassett
    Department of Psychiatry, Health Sciences Centre Hospital, University of British Columbia, Vancouver, Canada
    Lancet 1:799-801. 1988
    ..The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia...
  41. pmc Genetic predictors of response to treatment with citalopram in depression secondary to traumatic brain injury
    Krista L Lanctot
    Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
    Brain Inj 24:959-69. 2010
    ..To determine which serotonergic system-related single nucleotide polymorphisms (SNPs) predicted variation in treatment response to citalopram in depression following a traumatic brain injury (TBI)...
  42. pmc Postmaturity in a genetic subtype of schizophrenia
    E W C Chow
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Acta Psychiatr Scand 108:260-8. 2003
    ..05). CONCLUSION: The results suggest that postmaturity may be associated with expression of schizophrenia in a 22qDS subtype of schizophrenia. SGA may be a non-specific marker of neurodevelopmental disturbance...
  43. pmc Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
    K Lazier
    Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Ontario, M6J 1H4, Toronto, Canada
    Schizophr Res 50:177-80. 2001
    ....
  44. doi request reprint Neuropathologic features in adults with 22q11.2 deletion syndrome
    T R Kiehl
    Department of Pathology, University Health Network, Toronto, ON M5G 2C4, Canada
    Cereb Cortex 19:153-64. 2009
    ..Both early developmental brain abnormalities and fetal and later microvascular pathology may play a role in the pathogenesis of the neuropsychiatric phenotype of 22qDS, including white matter abnormalities and schizophrenia...
  45. pmc Patterns of dysmorphic features in schizophrenia
    L E Scutt
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet 105:713-23. 2001
    ..Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins...
  46. pmc Elevated rates of schizophrenia in a familial sample with mental illness and intellectual disability
    C M T Greenwood
    Clinical Genetics Research Program, Queen Street Site, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    J Intellect Disabil Res 48:531-9. 2004
    ..L. S. Penrose's large sample of families with two or more members admitted to psychiatric hospitals provided a unique opportunity to investigate the familial relationship between mild ID, schizophrenia and psychotic affective disorders...
  47. pmc A major susceptibility locus for specific language impairment is located on 13q21
    Christopher W Bartlett
    Center for Molecular and Behavioral Neuroscience, Rutgers University, Piscataway, NJ 08854 8095, USA
    Am J Hum Genet 71:45-55. 2002
    ..86, genomic P value <.06 under the recessive language impairment model). Our findings underscore the utility of traditional LOD-score-based methods in finding genes for complex diseases, specifically, SLI...
  48. ncbi request reprint Fine mapping of the schizophrenia susceptibility locus on chromosome 1q22
    Linda M Brzustowicz
    Department of Genetics, Rutgers University, Piscataway, NJ 08854 8095, USA
    Hum Hered 54:199-209. 2002
    ..This duplication may be involved in genomic instability, leading to gene deletion, and so presents an intriguing candidate locus for schizophrenia susceptibility...
  49. pmc Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22
    Linda M Brzustowicz
    Department of Genetics, Rutgers University, Piscataway, NJ 08854, USA
    Am J Hum Genet 74:1057-63. 2004
    ..Consistent with several recently identified candidate genes for schizophrenia, CAPON is involved in signal transduction in the NMDA receptor system, highlighting the potential importance of this pathway in the etiology of schizophrenia...
  50. pmc Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
    Susan J Moore
    Clinical Epidemiology Unit, Memorial University, St John s, Newfoundland, Canada
    Am J Med Genet A 132:352-60. 2005
    ..The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs...
  51. pmc Phenotype matters: the case for careful characterization of relevant traits
    Linda M Brzustowicz
    Am J Psychiatry 165:1096-8. 2008
  52. pmc Heritability of schizophrenia and major affective disorder as a function of age, in the presence of strong cohort effects
    Janice A Husted
    Department of Health Studies and Gerontology, University of Waterloo, Waterloo, Ontario N2L 3G1, Canada
    Eur Arch Psychiatry Clin Neurosci 256:222-9. 2006
    ..29,95 % CI: 1.14, 1.45). Gender of proband was unrelated to sibling risk of the same illness, and tests of interaction effects between proband age at onset and gender on sibling risk were nonsignificant...
  53. pmc Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    Nancy D Merner
    Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador A1B 3V6, Canada
    Am J Hum Genet 82:809-21. 2008
    ....
  54. pmc Sibship characteristics in a familial sample with genetic susceptibility to schizophrenia
    Janice A Husted
    Schizophr Res 95:248-9. 2007
  55. pmc QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
    Stefano Colella
    Genomics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford, UK
    Nucleic Acids Res 35:2013-25. 2007
    ..In conclusion, QuantiSNP is a novel algorithm for high-resolution CNV/aneuploidy detection with application to clinical genetics, cancer and disease association studies...
  56. pmc Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia
    Cathryn M Lewis
    Division of Genetics and Development, Guy s, King s and St Thomas School of Medicine, London, UK
    Am J Hum Genet 73:34-48. 2003
    ..There is greater consistency of linkage results across studies than has been previously recognized. The results suggest that some or all of these regions contain loci that increase susceptibility to schizophrenia in diverse populations...
  57. pmc Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples
    Michael E Talkowski
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
    Biol Psychiatry 60:152-62. 2006
    ..Yet, similar to other SCZ candidate genes, studies have been inconsistent with respect to the associated alleles...
  58. pmc The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)
    Kathy A Hodgkinson
    Clinical Epidemiology Unit, Memorial University Health Sciences Centre, St John s, Newfoundland, Canada A1B 3V6
    J Am Coll Cardiol 45:400-8. 2005
    ..We sought to determine the impact of implantable cardioverter-defibrillator (ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  59. pmc Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
    Ronak K Kapadia
    Faculty of Medicine, Dalhousie University, Halifax, NS
    CMAJ 178:391-3. 2008