Janet Laurie Sobell, PhD

Associate Professor of Research Psychiatry and the Behavioral Sciences

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Publications

  • Rare coding variants in ten genes confer substantial risk for schizophrenia Nature. 2022 04; 604(7906):509-516. . View in PubMed
  • Mapping genomic loci implicates genes and synaptic biology in schizophrenia Nature. 2022 04; 604(7906):502-508. . View in PubMed
  • Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder Mol Psychiatry. 2021 Sep; 26(9):5251. . View in PubMed
  • Characterisation of age and polarity at onset in bipolar disorder Br J Psychiatry. 2021 12; 219(6):659-669. . View in PubMed
  • Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder Mol Psychiatry. 2021 09; 26(9):5239-5250. . View in PubMed
  • Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology Nat Genet. 2021 06; 53(6):817-829. . View in PubMed
  • Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry Mol Psychiatry. 2020 10; 25(10):2455-2467. . View in PubMed
  • Gene Expression in Patient-Derived Neural Progenitors Implicates WNT5A Signaling in the Etiology of Schizophrenia Biol Psychiatry. 2020 08 01; 88(3):236-247. . View in PubMed
  • Genome-wide association study identifies 30 loci associated with bipolar disorder Nat Genet. 2019 05; 51(5):793-803. . View in PubMed
  • Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases Biol Psychiatry. 2019 07 15; 86(2):110-119. . View in PubMed
  • Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts Biol Psychiatry. 2019 06 15; 85(12):1065-1073. . View in PubMed
  • Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder Transl Psychiatry. 2017 01 10; 7(1):e993. . View in PubMed
  • Paternal age effect: Replication in schizophrenia with intriguing dissociation between bipolar with and without psychosis Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):495-505. . View in PubMed
  • Traumatic brain injury and bipolar psychosis in the Genomic Psychiatry Cohort Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):506-12. . View in PubMed
  • Substance use associated with short sleep duration in patients with schizophrenia or schizoaffective disorder Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):525-33. . View in PubMed
  • LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):534-45. . View in PubMed
  • Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study JAMA Psychiatry. 2016 05 01; 73(5):506-14. . View in PubMed
  • Transposable elements and psychiatric disorders Am J Med Genet B Neuropsychiatr Genet. 2014 Apr; 165B(3):201-16. . View in PubMed
  • Comorbidity of severe psychotic disorders with measures of substance use JAMA Psychiatry. 2014 Mar; 71(3):248-54. . View in PubMed
  • The genomic psychiatry cohort: partners in discovery Am J Med Genet B Neuropsychiatr Genet. 2013 Jun; 162B(4):306-12. . View in PubMed
  • A system architecture for sharing de-identified, research-ready brain scans and health information across clinical imaging centers Stud Health Technol Inform. 2012; 175:19-28. . View in PubMed
  • Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples Biol Psychiatry. 2006 Jul 15; 60(2):152-62. . View in PubMed
  • Failure to confirm association between RGS4 haplotypes and schizophrenia in Caucasians Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):23-7. . View in PubMed
  • Multiple missense mutations in the diazepam binding inhibitor (DBI) gene identified in schizophrenia but lack of disease association Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15; 125B(1):10-9. . View in PubMed
  • Genetics and etiopathophysiology of schizophrenia Mayo Clin Proc. 2002 Oct; 77(10):1068-82. . View in PubMed
  • Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia Am J Med Genet. 2002 Aug 08; 114(6):631-6. . View in PubMed
  • Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients Mol Psychiatry. 2001 May; 6(3):274-84. . View in PubMed
  • Histamine N-methyltransferase functional polymorphism: lack of association with schizophrenia Am J Med Genet. 2000 Jun 12; 96(3):404-6. . View in PubMed
  • Variants in the alpha2A AR adrenergic receptor gene in psychiatric patients Am J Med Genet. 1998 Sep 07; 81(5):405-10. . View in PubMed
  • Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid Am J Med Genet. 1998 Mar 28; 81(2):172-8. . View in PubMed
  • Gly(247)–>Asp proenkephalin A mutation is rare in schizophrenia populations Am J Med Genet. 1997 Apr 18; 74(2):213-5. . View in PubMed
  • Screening the monoamine oxidase B gene in 100 male patients with schizophrenia: a cluster of polymorphisms in African-Americans but lack of functionally significant sequence changes Am J Med Genet. 1997 Feb 21; 74(1):44-9. . View in PubMed
  • Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients Am J Med Genet. 1996 Sep 20; 67(5):459-67. . View in PubMed
  • Genotype-to-phenotype analysis: search for clinical characteristics of a missense change in the GABAA-beta 1 receptor gene Am J Med Genet. 1996 Feb 16; 67(1):81-4. . View in PubMed
  • Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes Am J Med Genet. 1995 Apr 24; 60(2):165-71. . View in PubMed
  • The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease Hum Mol Genet. 1995 Apr; 4(4):507-14. . View in PubMed
  • S311C D2DR variant: no association with schizophrenia Lancet. 1994 Aug 27; 344(8922):621-2. . View in PubMed
  • Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics Am J Med Genet. 1994 Mar 15; 54(1):1-4. . View in PubMed
  • Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia Am J Med Genet. 1994 Mar 15; 54(1):12-20. . View in PubMed
  • A common exonic polymorphism in the human D5 dopamine receptor gene Hum Genet. 1993 Dec; 92(6):633-4. . View in PubMed
  • APP mutations and schizophrenia Biol Psychiatry. 1993 Nov 15; 34(10):739-40. . View in PubMed
  • Dopamine D4 receptor variants in unrelated schizophrenic cases and controls Am J Med Genet. 1993 Jul 15; 48(2):90-3. . View in PubMed
  • Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene Am J Med Genet. 1993 May 01; 48(1):28-35. . View in PubMed
  • Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high Hum Mutat. 1993; 2(6):485-8. . View in PubMed
  • Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility Genomics. 1992 Jan; 12(1):1-6. . View in PubMed
  • Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor Genomics. 1991 Sep; 11(1):8-14. . View in PubMed
  • A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria Mayo Clin Proc. 1989 Nov; 64(11):1361-72. . View in PubMed
  • Application of DNA-based diagnosis to patient care: the example of hemophilia A Mayo Clin Proc. 1987 May; 62(5):387-404. . View in PubMed