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  1. Article ; Online: Clinical genetics of schizophrenia and related neuropsychiatric disorders.

    Bassett, Anne S

    Psychiatry research

    2022  Volume 319, Page(s) 114992

    Abstract: Rare structural variants have turned out to be the long sought for genetic variants of (relatively) high effect size for schizophrenia. Delineating the 22q11.2 microdeletion as the first molecular subtype of schizophrenia was a milestone in schizophrenia ...

    Abstract Rare structural variants have turned out to be the long sought for genetic variants of (relatively) high effect size for schizophrenia. Delineating the 22q11.2 microdeletion as the first molecular subtype of schizophrenia was a milestone in schizophrenia research, foreshadowing a more general role for rare copy number variation (CNV) in schizophrenia. The 22q11.2 microdeletion has a high effect size - one in every four individuals born with this deletion develops schizophrenia - and a relatively high prevalence for a rare condition. Discovery of this human genetic high-risk model for schizophrenia has shown how genetics can change clinical management, and also provide new opportunities for animal and cellular models. Further new findings indicate a role for tandem repeat expansion, other less complex rare variants, and collective background effects of common variants in the genetics of schizophrenia. Thus, the genetic architecture of schizophrenia is taking shape, with further advances on the horizon.
    MeSH term(s) Animals ; Humans ; Schizophrenia/genetics ; DNA Copy Number Variations/genetics ; Surveys and Questionnaires ; Genetic Predisposition to Disease/genetics
    Language English
    Publishing date 2022-11-28
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 445361-x
    ISSN 1872-7123 ; 1872-7506 ; 0925-4927 ; 0165-1781
    ISSN (online) 1872-7123 ; 1872-7506
    ISSN 0925-4927 ; 0165-1781
    DOI 10.1016/j.psychres.2022.114992
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  2. Article ; Online: Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.

    Boot, Erik / Marras, Connie / Bassett, Anne S

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 12, Page(s) 1314–1317

    MeSH term(s) Adult ; Humans ; Retrospective Studies ; Chromosome Deletion ; Movement Disorders/genetics ; Chromosomes, Human, Pair 22/genetics ; DiGeorge Syndrome/genetics
    Language English
    Publishing date 2022-08-25
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01152-4
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  3. Article ; Online: Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.

    Bassett, Anne S / Reuter, Miriam S / Malecki, Sarah / Silversides, Candice / Oechslin, Erwin

    CJC pediatric and congenital heart disease

    2023  Volume 2, Issue 6Part A, Page(s) 426–439

    Abstract: Genetic changes affect embryogenesis, cardiac and extracardiac phenotype, development, later onset conditions, and both short- and long-term outcomes and comorbidities in the increasing population of individuals with tetralogy of Fallot (TOF). In this ... ...

    Abstract Genetic changes affect embryogenesis, cardiac and extracardiac phenotype, development, later onset conditions, and both short- and long-term outcomes and comorbidities in the increasing population of individuals with tetralogy of Fallot (TOF). In this review, we focus on current knowledge about clinically relevant genetics for patients with TOF across the lifespan. The latest findings for TOF genetics that are pertinent to day-to-day practice and lifelong management are highlighted: morbidity/mortality, cardiac/extracardiac features, including neurodevelopmental expression, and recent changes to prenatal screening and diagnostics. Genome-wide microarray is the first-line clinical genetic test for TOF across the lifespan, detecting relevant structural changes including the most common for TOF, the 22q11.2 microdeletion. Accumulating evidence illustrates opportunities for advances in understanding and care that may arise from genetic diagnosis at any age. We also glimpse into the near future when the multigenic nature of TOF will be more fully revealed, further enhancing possibilities for preventive care. Precision medicine is nigh.
    Language English
    Publishing date 2023-10-10
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2772-8129
    ISSN (online) 2772-8129
    DOI 10.1016/j.cjcpc.2023.10.002
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  4. Article ; Online: Adult-onset obstructive sleep apnea and pediatric pharyngoplasty in 22q11.2 deletion syndrome.

    Cancelliere, Sabrina / Heung, Tracy / Fischbach, Simone / Klaiman, Paula / Bassett, Anne S

    Sleep medicine

    2023  Volume 104, Page(s) 49–55

    Abstract: Objective/background: We aimed to evaluate adult-onset obstructive sleep apnea (OSA) and related risk factors, including history of pediatric palatal/pharyngeal surgery to remediate velopharyngeal dysfunction, in 22q11.2 deletion syndrome (22q11.2DS).!## ...

    Abstract Objective/background: We aimed to evaluate adult-onset obstructive sleep apnea (OSA) and related risk factors, including history of pediatric palatal/pharyngeal surgery to remediate velopharyngeal dysfunction, in 22q11.2 deletion syndrome (22q11.2DS).
    Patients/methods: Using a retrospective cohort design and standard sleep study-based criteria, we determined presence of adult-onset OSA (age ≥16 years) and relevant variables through comprehensive chart review in a well-characterized cohort of 387 adults with typical 22q11.2 microdeletions (51.4% female, median age 32.3, interquartile range 25.0-42.5, years). We used multivariate logistic regression to identify independent risk factors for OSA.
    Results: Of the 73 adults with sleep study data, 39 (53.4%) met criteria for OSA at median age 33.6 (interquartile range 24.0-40.7) years, indicating a minimum OSA prevalence of 10.1% in this 22q11.2DS cohort. History of pediatric pharyngoplasty (odds ratio 2.56, 95% confidence interval 1.15-5.70) was a significant independent predictor of adult-onset OSA, while accounting for other significant independent predictors (asthma, higher body mass index, older age), and for male sex. An estimated 65.5% of those prescribed continuous positive airway pressure therapy were reported as adherent.
    Conclusions: In addition to factors of known importance in the general population, delayed effects of pediatric pharyngoplasty may contribute to risk of adult-onset OSA in individuals with 22q11.2DS. The results support increased index of suspicion for OSA in adults with a 22q11.2 microdeletion. Future research with this and other homogeneous genetic models may help to improve outcomes and to better understand genetic and modifiable risk factors for OSA.
    MeSH term(s) Humans ; Child ; Adult ; Male ; Female ; Young Adult ; Adolescent ; DiGeorge Syndrome/complications ; DiGeorge Syndrome/genetics ; DiGeorge Syndrome/surgery ; Retrospective Studies ; Pharynx/surgery ; Sleep Apnea, Obstructive/epidemiology ; Sleep Apnea, Obstructive/genetics ; Sleep Apnea, Obstructive/surgery ; Risk Factors
    Language English
    Publishing date 2023-02-16
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2023.02.010
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  5. Article ; Online: Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context.

    Malecki, Sarah L / Heung, Tracy / Wodchis, Walter P / Saskin, Refik / Palma, Luis / Verma, Amol A / Bassett, Anne S

    Genetics in medicine : official journal of the American College of Medical Genetics

    2024  Volume 26, Issue 5, Page(s) 101088

    Abstract: Purpose: Information about the impact on the adult health care system is limited for complex rare pediatric diseases, despite their increasing collective prevalence that has paralleled advances in clinical care of children. Within a population-based ... ...

    Abstract Purpose: Information about the impact on the adult health care system is limited for complex rare pediatric diseases, despite their increasing collective prevalence that has paralleled advances in clinical care of children. Within a population-based health care context, we examined costs and multimorbidity in adults with an exemplar of contemporary genetic diagnostics.
    Methods: We estimated direct health care costs over an 18-year period for adults with molecularly confirmed 22q11.2 microdeletion (cases) and matched controls (total 60,459 person-years of data) by linking the case cohort to health administrative data for the Ontario population (∼15 million people). We used linear regression to compare the relative ratio (RR) of costs and to identify baseline predictors of higher costs.
    Results: Total adult (age ≥ 18) health care costs were significantly higher for cases compared with population-based (RR 8.5, 95% CI 6.5-11.1) controls, and involved all health care sectors. At study end, when median age was <30 years, case costs were comparable to population-based individuals aged 72 years, likelihood of being within the top 1st percentile of health care costs for the entire (any age) population was significantly greater for cases than controls (odds ratio [OR], for adults 17.90, 95% CI 7.43-43.14), and just 8 (2.19%) cases had a multimorbidity score of zero (vs 1483 (40.63%) controls). The 22q11.2 microdeletion was a significant predictor of higher overall health care costs after adjustment for baseline variables (RR 6.9, 95% CI 4.6-10.5).
    Conclusion: The findings support the possible extension of integrative models of complex care used in pediatrics to adult medicine and the potential value of genetic diagnostics in adult clinical medicine.
    Language English
    Publishing date 2024-02-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2024.101088
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  6. Article ; Online: Approaches to studying the impact of 22q11.2 copy number variants.

    Bassett, Anne S / McDonald-McGinn, Donna M / Boot, Erik / Óskarsdóttir, Sólveig / Yuen, Ryan K C

    American journal of human genetics

    2023  Volume 110, Issue 7, Page(s) 1216–1218

    MeSH term(s) Humans ; DNA Copy Number Variations/genetics ; Chromosome Deletion ; DiGeorge Syndrome/genetics ; Chromosomes, Human, Pair 22
    Language English
    Publishing date 2023-07-07
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2023.05.008
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    Zs.A 107: Show issues Location:
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  7. Article: Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.

    Ying, Shengjie / Heung, Tracy / Zhang, Zhaolei / Yuen, Ryan K C / Bassett, Anne S

    Frontiers in genetics

    2022  Volume 13, Page(s) 812183

    Abstract: The 22q11.2 deletion is associated with >20-fold increased risk for schizophrenia. The presence of ... ...

    Abstract The 22q11.2 deletion is associated with >20-fold increased risk for schizophrenia. The presence of gene
    Language English
    Publishing date 2022-04-15
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.812183
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  8. Article ; Online: Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

    Goldmuntz, Elizabeth / Bassett, Anne S / Boot, Erik / Marino, Bruno / Moldenhauer, Julie S / Óskarsdóttir, Sólveig / Putotto, Carolina / Rychik, Jack / Schindewolf, Erica / McDonald-McGinn, Donna M / Blagowidow, Natalie

    Prenatal diagnosis

    2024  

    Abstract: Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, ... ...

    Abstract Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three-vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.
    Language English
    Publishing date 2024-04-09
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6566
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  9. Article ; Online: Copy Number Variation in Tourette Syndrome.

    Bassett, Anne S / Scherer, Stephen W

    Neuron

    2017  Volume 94, Issue 6, Page(s) 1041–1043

    Abstract: In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest. ...

    Abstract In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
    MeSH term(s) DNA Copy Number Variations ; Genome ; Genome-Wide Association Study ; Humans ; Tourette Syndrome/genetics
    Language English
    Publishing date 2017-06-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2017.06.017
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  10. Article ; Online: Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.

    Ying, Shengjie / Heung, Tracy / Thiruvahindrapuram, Bhooma / Engchuan, Worrawat / Yin, Yue / Blagojevic, Christina / Zhang, Zhaolei / Hegele, Robert A / Yuen, Ryan K C / Bassett, Anne S

    BMC medical genomics

    2023  Volume 16, Issue 1, Page(s) 302

    Language English
    Publishing date 2023-11-23
    Publishing country England
    Document type Published Erratum
    ZDB-ID 2411865-5
    ISSN 1755-8794 ; 1755-8794
    ISSN (online) 1755-8794
    ISSN 1755-8794
    DOI 10.1186/s12920-023-01742-1
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