Suchergebnisse - "Maillard, Anne M"
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Copy number variations and cognitive phenotypes in unselected populations
ISSN: 1538-3598, 1538-3598Veröffentlicht: United States 26.05.2015Veröffentlicht in JAMA : the journal of the American Medical Association (26.05.2015)“… The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as …”
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The development of attentional control mechanisms in multisensory environments
ISSN: 1878-9293, 1878-9307, 1878-9307Veröffentlicht: Netherlands Elsevier Ltd 01.04.2021Veröffentlicht in Developmental cognitive neuroscience (01.04.2021)“… •By age 7, children show adult-like task-set contingent attentional capture in behavior (top-down visual attentional control).•Children showed no behavioral …”
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Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion
ISSN: 2158-3188, 2158-3188Veröffentlicht: London Nature Publishing Group UK 14.02.2024Veröffentlicht in Translational psychiatry (14.02.2024)“… Reciprocal Copy Number Variants (CNVs) at the 16p11.2 locus confer high risk for autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) …”
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Could Gait Biomechanics Become a Marker of Atypical Neuronal Circuitry in Human Development?—The Example of Autism Spectrum Disorder
ISSN: 2296-4185, 2296-4185Veröffentlicht: Switzerland Frontiers Media S.A 16.03.2021Veröffentlicht in Frontiers in bioengineering and biotechnology (16.03.2021)“… This perspective paper presents converging recent knowledge in neurosciences (motor neurophysiology, neuroimaging and neuro cognition) and biomechanics to …”
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The psychiatric phenotypes of 1q21 distal deletion and duplication
ISSN: 2158-3188, 2158-3188Veröffentlicht: London Nature Publishing Group UK 04.02.2021Veröffentlicht in Translational psychiatry (04.02.2021)“… Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the …”
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Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication
ISSN: 2158-3188, 2158-3188Veröffentlicht: London Nature Publishing Group UK 18.06.2021Veröffentlicht in Translational psychiatry (18.06.2021)Volltext
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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants
ISSN: 1535-7228, 1535-7228Veröffentlicht: United States 01.01.2021Veröffentlicht in The American journal of psychiatry (01.01.2021)“… Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in …”
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Psychiatric disorders in children with 16p11.2 deletion and duplication
ISSN: 2158-3188, 2158-3188Veröffentlicht: London Nature Publishing Group UK 16.01.2019Veröffentlicht in Translational psychiatry (16.01.2019)“… Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the …”
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Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
ISSN: 1535-7228, 1535-7228Veröffentlicht: United States 01.09.2023Veröffentlicht in The American journal of psychiatry (01.09.2023)“… Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs), including autism …”
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
ISSN: 0006-3223, 1873-2402, 1873-2402Veröffentlicht: United States Elsevier Inc 15.07.2016Veröffentlicht in Biological psychiatry (1969) (15.07.2016)“… Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and …”
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Uncovering the Mechanisms of Real‐World Attentional Control Over the Course of Primary Education
ISSN: 1751-2271, 1751-228XVeröffentlicht: Hoboken, USA Wiley Subscription Services, Inc 01.11.2021Veröffentlicht in Mind, brain and education (01.11.2021)“… ABSTRACT Schooling may shape children's abilities to control their attention, but it is unclear if this impact extends from control over visual objects to …”
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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
ISSN: 1537-6605, 1537-6605Veröffentlicht: United States 05.10.2017Veröffentlicht in American journal of human genetics (05.10.2017)“… Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism …”
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Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
ISSN: 2073-4425, 2073-4425Veröffentlicht: Switzerland MDPI AG 07.01.2023Veröffentlicht in Genes (07.01.2023)“… Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected …”
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Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium
ISSN: 1769-7212, 1878-0849, 1878-0849Veröffentlicht: Netherlands Elsevier Masson SAS 01.12.2020Veröffentlicht in European journal of medical genetics (01.12.2020)“… Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being …”
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Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
ISSN: 2397-3374, 2397-3374Veröffentlicht: London Nature Publishing Group UK 01.06.2023Veröffentlicht in Nature human behaviour (01.06.2023)“… Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that …”
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Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants
ISSN: 1741-0541, 1744-828X, 1744-828XVeröffentlicht: England 01.07.2016Veröffentlicht in Personalized medicine (01.07.2016)“… Procedural guidelines for disclosure of incidental genomic information are lacking. We introduce a method and evaluated the impact of returning results to …”
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Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication
ISSN: 2158-3188, 2158-3188Veröffentlicht: London Nature Publishing Group UK 05.03.2019Veröffentlicht in Translational psychiatry (05.03.2019)“… One of the co-authors, Marianne B.M. van den Bree has had her name incorrectly abbreviated by citation manager. It was stated as “Bree MBMVD14”, but has been …”
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
ISSN: 2168-6238, 2168-6238Veröffentlicht: United States 01.01.2016Veröffentlicht in JAMA psychiatry (Chicago, Ill.) (01.01.2016)“… The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities …”
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Subcortical brain alterations in carriers of genomic copy number variants
Veröffentlicht: United States 22.02.2023Veröffentlicht in medRxiv : the preprint server for health sciences (22.02.2023)“… Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism …”
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Autistic spectrum disorder in women : how does gender operate?
ISSN: 1660-9379Veröffentlicht: Switzerland 26.06.2024Veröffentlicht in Revue médicale suisse (26.06.2024)“… Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, that affects both pediatric and adult populations and presents heterogeneously. The …”
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