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Article ; Online: Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.

Maillard, Anne M / Romascano, David / Villalón-Reina, Julio E / Moreau, Clara A / Almeida Osório, Joana M / Richetin, Sonia / Junod, Vincent / Yu, Paola / Misic, Bratislav / Thompson, Paul M / Fornari, Eleonora / Gygax, Marine Jequier / Jacquemont, Sébastien / Chabane, Nadia / Rodríguez-Herreros, Borja

Translational psychiatry

2024 Volume 14, Issue 1, Page(s) 95

Abstract: Reciprocal Copy Number Variants (CNVs) at the 16p11.2 locus confer high risk for autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Morphometric MRI studies have revealed large and pervasive volumetric alterations in carriers ... ...

Abstract	Reciprocal Copy Number Variants (CNVs) at the 16p11.2 locus confer high risk for autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Morphometric MRI studies have revealed large and pervasive volumetric alterations in carriers of a 16p11.2 deletion. However, the specific neuroanatomical mechanisms underlying such alterations, as well as their developmental trajectory, are still poorly understood. Here we explored differences in microstructural brain connectivity between 24 children carrying a 16p11.2 deletion and 66 typically developing (TD) children between 2 and 8 years of age. We found a large pervasive increase of intra-axonal volume widespread over a high number of white matter tracts. Such microstructural alterations in 16p11.2 deletion children were already present at an early age, and led to significant changes in the global efficiency and integration of brain networks mainly associated to language, motricity and socio-emotional behavior, although the widespread pattern made it unlikely to represent direct functional correlates. Our results shed light on the neuroanatomical basis of the previously reported increase of white matter volume, and align well with analogous evidence of altered axonal diameter and synaptic function in 16p11.2 mice models. We provide evidence of a prevalent mechanistic deviation from typical maturation of brain structural connectivity associated with a specific biological risk to develop ASD. Future work is warranted to determine how this deviation contributes to the emergence of symptoms observed in young children diagnosed with ASD and other NDDs.
MeSH term(s)	Child ; Humans ; Animals ; Mice ; Child, Preschool ; Chromosome Deletion ; Autism Spectrum Disorder/diagnostic imaging ; Autism Spectrum Disorder/genetics ; Brain/diagnostic imaging ; White Matter/diagnostic imaging ; Magnetic Resonance Imaging ; Chromosomes, Human, Pair 16/genetics ; DNA Copy Number Variations
Language	English
Publishing date	2024-02-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-024-02810-5
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Article ; Online: Sex differences in sensory processing in children with autism spectrum disorder.

Osório, Joana Maria Almeida / Rodríguez-Herreros, Borja / Richetin, Sonia / Junod, Vincent / Romascano, David / Pittet, Valérie / Chabane, Nadia / Jequier Gygax, Marine / Maillard, Anne Manuela

Autism research : official journal of the International Society for Autism Research

2021 Volume 14, Issue 11, Page(s) 2412–2423

Abstract: Despite the high prevalence of sensory processing difficulties in children with autism spectrum disorder (ASD), little research has focused on the sex differences in sensory processing. Furthermore, there is a lack of knowledge on the female-specific ... ...

Abstract	Despite the high prevalence of sensory processing difficulties in children with autism spectrum disorder (ASD), little research has focused on the sex differences in sensory processing. Furthermore, there is a lack of knowledge on the female-specific symptoms of ASD, contributing to later referral, diagnosis and intervention. In this study, we examined the sex differences in sensory processing symptoms in large cohorts of ASD children (N = 168; 26 females, 142 males) and typically developing (TD) children (N = 439; 209 females, 230 males). For this, we translated the sensory processing measure (SPM) and SPM - Preschool (SPM-P) Home Forms to French. The SPM/SPM-P are parent/caregiver questionnaires that assess typical behavioral responses to sensory stimuli. Overall, our results showed that the magnitude of the differences in sensory processing between males and females is larger in ASD children relative to TD children, with females showing more severe symptoms in Hearing, as well as Balance and Motion subscales. Additionally, linear discriminant analysis showed that the SPM/SPM-P are good at discriminating TD children from ASD, children with higher accuracy rates for females than for males. These findings are discussed in light of the heterogeneity of sensory processing difficulties present in ASD. Overall, our results suggest that there seem to be female-specific profiles in sensory processing difficulties in ASD. Implications of findings concerning sex differences in sensory processing and their potential for improving identification and diagnosis of ASD females are discussed. LAY SUMMARY: The present study examined sex differences in behavioral responses to sensory stimuli in children with autism spectrum disorder (ASD), and typically developing (TD) children. While there is a small trend for TD males to show more sensory processing atypicalities, female ASD children show significantly more atypical responses compared to their male counterparts. This has important implications for characterizing female autism profiles, and ultimately improving the chance for earlier detection, diagnosis and treatment.
MeSH term(s)	Autism Spectrum Disorder/complications ; Autistic Disorder ; Child ; Child, Preschool ; Cognition ; Female ; Humans ; Male ; Perception ; Sex Characteristics
Language	English
Publishing date	2021-07-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2481338-2
ISSN	1939-3806 ; 1939-3792
ISSN (online)	1939-3806
ISSN	1939-3792
DOI	10.1002/aur.2580
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Article ; Online: Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

Osório, Joana Maria Almeida / Rodríguez-Herreros, Borja / Romascano, David / Junod, Vincent / Habegger, Aline / Pain, Aurélie / Richetin, Sonia / Yu, Paola / Isidor, Bertrand / Van Maldergem, Lionel / Pons, Linda / Manificat, Sabine / Chabane, Nadia / Jequier Gygax, Marine / Maillard, Anne Manuela

Molecular autism

2021 Volume 12, Issue 1, Page(s) 8

Abstract: Background: Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we ... ...

Abstract	Background: Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children. Methods: Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses. Results: ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R. Limitations: Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed. Conclusions: Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.
MeSH term(s)	Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/etiology ; Autism Spectrum Disorder/physiopathology ; Autistic Disorder/diagnosis ; Autistic Disorder/genetics ; Autistic Disorder/physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; Chromosome Disorders/physiopathology ; Chromosomes, Human, Pair 16/genetics ; Cognition ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Individuality ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Mutation ; Phenotype ; Taste Perception ; Touch Perception
Language	English
Publishing date	2021-02-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2540930-X
ISSN	2040-2392 ; 2040-2392
ISSN (online)	2040-2392
ISSN	2040-2392
DOI	10.1186/s13229-020-00410-w
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Article ; Online: Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.

Kopal, Jakub / Kumar, Kuldeep / Saltoun, Karin / Modenato, Claudia / Moreau, Clara A / Martin-Brevet, Sandra / Huguet, Guillaume / Jean-Louis, Martineau / Martin, Charles-Olivier / Saci, Zohra / Younis, Nadine / Tamer, Petra / Douard, Elise / Maillard, Anne M / Rodriguez-Herreros, Borja / Pain, Aurèlie / Richetin, Sonia / Kushan, Leila / Silva, Ana I /

van den Bree, Marianne B M / Linden, David E J / Owen, Michael J / Hall, Jeremy / Lippé, Sarah / Draganski, Bogdan / Sønderby, Ida E / Andreassen, Ole A / Glahn, David C / Thompson, Paul M / Bearden, Carrie E / Jacquemont, Sébastien / Bzdok, Danilo

Nature human behaviour

2023 Volume 7, Issue 6, Page(s) 1001–1017

Abstract: Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale ... ...

Abstract	Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
MeSH term(s)	Humans ; DNA Copy Number Variations/genetics ; Brain/diagnostic imaging
Language	English
Publishing date	2023-03-02
Publishing country	England
Document type	Journal Article
ISSN	2397-3374
ISSN (online)	2397-3374
DOI	10.1038/s41562-023-01541-9
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Article: Subcortical brain alterations in carriers of genomic copy number variants.

Kumar, Kuldeep / Modenato, Claudia / Moreau, Clara / Ching, Christopher R K / Harvey, Annabelle / Martin-Brevet, Sandra / Huguet, Guillaume / Jean-Louis, Martineau / Douard, Elise / Martin, Charles-Olivier / Younis, Nadine / Tamer, Petra / Maillard, Anne M / Rodriguez-Herreros, Borja / Pain, Aurélie / Richetin, Sonia / Kushan, Leila / Isaev, Dmitry / Alpert, Kathryn /

medRxiv : the preprint server for health sciences

2023

Abstract: Objectives: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism (ASD) and schizophrenia (SZ). Overall, little is known about how different CNVs ... ...

Abstract	Objectives: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism (ASD) and schizophrenia (SZ). Overall, little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, we investigated gross volume, and vertex level thickness and surface maps of subcortical structures in 11 different CNVs and 6 different NPDs. Methods: Subcortical structures were characterized using harmonized ENIGMA protocols in 675 CNV carriers (at the following loci: 1q21.1, TAR, 13q12.12, 15q11.2, 16p11.2, 16p13.11, and 22q11.2) and 782 controls (Male/Female: 727/730; age-range: 6-80 years) as well as ENIGMA summary-statistics for ASD, SZ, ADHD, Obsessive-Compulsive-Disorder, Bipolar-Disorder, and Major-Depression. Results: Nine of the 11 CNVs affected volume of at least one subcortical structure. The hippocampus and amygdala were affected by five CNVs. Effect sizes of CNVs on subcortical volume, thickness and local surface area were correlated with their previously reported effect sizes on cognition and risk for ASD and SZ. Shape analyses were able to identify subregional alterations that were averaged out in volume analyses. We identified a common latent dimension - characterized by opposing effects on basal ganglia and limbic structures - across CNVs and across NPDs. Conclusion: Our findings demonstrate that subcortical alterations associated with CNVs show varying levels of similarities with those associated with neuropsychiatric conditions. We also observed distinct effects with some CNVs clustering with adult conditions while others clustered with ASD. This large cross-CNV and NPDs analysis provide insight into the long-standing questions of why CNVs at different genomic loci increase the risk for the same NPD, as well as why a single CNV increases the risk for a diverse set of NPDs.
Language	English
Publishing date	2023-02-22
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.02.14.23285913
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Article ; Online: Effects of eight neuropsychiatric copy number variants on human brain structure.

Modenato, Claudia / Kumar, Kuldeep / Moreau, Clara / Martin-Brevet, Sandra / Huguet, Guillaume / Schramm, Catherine / Jean-Louis, Martineau / Martin, Charles-Olivier / Younis, Nadine / Tamer, Petra / Douard, Elise / Thébault-Dagher, Fanny / Côté, Valérie / Charlebois, Audrey-Rose / Deguire, Florence / Maillard, Anne M / Rodriguez-Herreros, Borja / Pain, Aurèlie / Richetin, Sonia /

Melie-Garcia, Lester / Kushan, Leila / Silva, Ana I / van den Bree, Marianne B M / Linden, David E J / Owen, Michael J / Hall, Jeremy / Lippé, Sarah / Chakravarty, Mallar / Bzdok, Danilo / Bearden, Carrie E / Draganski, Bogdan / Jacquemont, Sébastien

Translational psychiatry

2021 Volume 11, Issue 1, Page(s) 399

Abstract: Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, ... ...

Abstract	Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen's d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.
MeSH term(s)	Brain/diagnostic imaging ; DNA Copy Number Variations ; Humans ; Magnetic Resonance Imaging ; Neuroimaging ; Schizophrenia/diagnostic imaging ; Schizophrenia/genetics
Language	English
Publishing date	2021-07-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-021-01490-9
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Article ; Online: Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biological psychiatry

2018 Volume 84, Issue 4, Page(s) 253–264

Abstract: Background: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs ... ...

Abstract	Background: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. Methods: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV. Results: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results. Conclusions: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.
MeSH term(s)	Adolescent ; Adult ; Autism Spectrum Disorder/diagnostic imaging ; Autism Spectrum Disorder/genetics ; Brain/pathology ; Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 16/genetics ; Cognitive Dysfunction/diagnostic imaging ; Cognitive Dysfunction/genetics ; DNA Copy Number Variations ; Female ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/genetics ; Language ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurodevelopmental Disorders/diagnostic imaging ; Neurodevelopmental Disorders/genetics ; Schizophrenia/diagnostic imaging ; Schizophrenia/genetics ; Young Adult
Language	English
Publishing date	2018-03-27
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2018.02.1176
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Zs.A 720: Show issues

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Article ; Online: Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Jønch, Aia Elise / Douard, Elise / Moreau, Clara / Van Dijck, Anke / Passeggeri, Marzia / Kooy, Frank / Puechberty, Jacques / Campbell, Carolyn / Sanlaville, Damien / Lefroy, Henrietta / Richetin, Sonia / Pain, Aurelie / Geneviève, David / Kini, Usha / Le Caignec, Cédric / Lespinasse, James / Skytte, Anne-Bine / Isidor, Bertrand / Zweier, Christiane /

Caberg, Jean-Hubert / Delrue, Marie-Ange / Møller, Rikke Steensbjerre / Bojesen, Anders / Hjalgrim, Helle / Brasch-Andersen, Charlotte / Lemyre, Emmanuelle / Ousager, Lilian Bomme / Jacquemont, Sébastien

Journal of medical genetics

2019 Volume 56, Issue 10, Page(s) 701–710

Abstract: Background: The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion ...

Abstract	Background: The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variability. The literature on this deletion is extensive and confusing, which is a challenge for genetic counselling. The aim of this study was to estimate the effect size of the 15q11.2 deletion and quantify its contribution to neurodevelopmental disorders. Methods: We performed meta-analyses on new and previously published case-control studies and used statistical models trained in unselected populations with cognitive assessments. We used new (n=241) and previously published (n=150) data from a clinically referred group of deletion carriers. 15q11.2 duplications (new n=179 and previously published n=35) were used as a neutral control variant. Results: The deletion decreases IQ by 4.3 points. The estimated ORs and respective frequencies in deletion carriers for intellectual disabilities, schizophrenia and epilepsy are 1.7 (3.4%), 1.5 (2%) and 3.1 (2.1%), respectively. There is no increased risk for heart malformations and autism. In the clinically referred group, the frequency and nature of symptoms in deletions are not different from those observed in carriers of the 15q11.2 duplication suggesting that most of the reported symptoms are due to ascertainment bias. Conclusions: We recommend that the deletion should be classified as 'pathogenic of mild effect size'. Since it explains only a small proportion of the phenotypic variance in carriers, it is not worth discussing in the developmental clinic or in a prenatal setting.
MeSH term(s)	Autistic Disorder/genetics ; Case-Control Studies ; Cohort Studies ; DNA Copy Number Variations ; Epilepsy/genetics ; Female ; Heart Diseases/congenital ; Heart Diseases/genetics ; Humans ; Intellectual Disability/genetics ; Loss of Function Mutation ; Male ; Neurodevelopmental Disorders/genetics ; Sequence Deletion
Language	English
Publishing date	2019-08-26
Publishing country	England
Document type	Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2018-105879
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Article ; Online: Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.

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Article ; Online: Sex differences in sensory processing in children with autism spectrum disorder.

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Article ; Online: Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

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Article ; Online: Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.

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Article: Subcortical brain alterations in carriers of genomic copy number variants.

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Article ; Online: Effects of eight neuropsychiatric copy number variants on human brain structure.

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Article ; Online: Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

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Article ; Online: Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

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