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Auteur Wendy K. CHUNG
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Documents disponibles écrits par cet auteur (11)
Faire une suggestion Affiner la rechercheAutism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)
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Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : texte imprimé Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication Genetics Neuropsychological Autism Intellectual disability Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748[article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [texte imprimé] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748
Mots-clés : 16p11.2 duplication Genetics Neuropsychological Autism Intellectual disability Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort / L. Casey WHITE in Journal of Autism and Developmental Disorders, 51-10 (October 2021)
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Titre : Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort Type de document : texte imprimé Auteurs : L. Casey WHITE, Auteur ; J. Kiely LAW, Auteur ; Amy M. DANIELS, Auteur ; Jaimie TORONEY, Auteur ; Brianna VERNOIA, Auteur ; Sabrina XIAO, Auteur ; Pamela FELICIANO, Auteur ; Wendy K. CHUNG, Auteur Article en page(s) : p.3766-3773 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/therapy Autistic Disorder Covid-19 Caregivers Child Humans SARS-CoV-2 United States Autism spectrum disorder Services Stress Telehealth Index. décimale : PER Périodiques Résumé : The impact of the 2019 coronavirus pandemic (COVID-19) in the United States is unprecedented, with unknown implications for the autism community. We surveyed 3502 parents/caregivers of individuals with an autism spectrum disorder (ASD) enrolled in Simons Powering Autism Research for Knowledge (SPARK) and found that most individuals with ASD experienced significant, ongoing disruptions to therapies. While some services were adapted to telehealth format, most participants were not receiving such services at follow-up, and those who were reported minimal benefit. Children under age five had the most severely disrupted services and lowest reported benefit of telehealth adaptation. Caregivers also reported worsening ASD symptoms and moderate family distress. Strategies to support the ASD community should be immediately developed and implemented. En ligne : http://dx.doi.org/10.1007/s10803-020-04816-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453
in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3766-3773[article] Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort [texte imprimé] / L. Casey WHITE, Auteur ; J. Kiely LAW, Auteur ; Amy M. DANIELS, Auteur ; Jaimie TORONEY, Auteur ; Brianna VERNOIA, Auteur ; Sabrina XIAO, Auteur ; Pamela FELICIANO, Auteur ; Wendy K. CHUNG, Auteur . - p.3766-3773.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3766-3773
Mots-clés : Autism Spectrum Disorder/therapy Autistic Disorder Covid-19 Caregivers Child Humans SARS-CoV-2 United States Autism spectrum disorder Services Stress Telehealth Index. décimale : PER Périodiques Résumé : The impact of the 2019 coronavirus pandemic (COVID-19) in the United States is unprecedented, with unknown implications for the autism community. We surveyed 3502 parents/caregivers of individuals with an autism spectrum disorder (ASD) enrolled in Simons Powering Autism Research for Knowledge (SPARK) and found that most individuals with ASD experienced significant, ongoing disruptions to therapies. While some services were adapted to telehealth format, most participants were not receiving such services at follow-up, and those who were reported minimal benefit. Children under age five had the most severely disrupted services and lowest reported benefit of telehealth adaptation. Caregivers also reported worsening ASD symptoms and moderate family distress. Strategies to support the ASD community should be immediately developed and implemented. En ligne : http://dx.doi.org/10.1007/s10803-020-04816-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy / Heidi S. LUMISH in Journal of Autism and Developmental Disorders, 45-11 (November 2015)
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Titre : Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy Type de document : texte imprimé Auteurs : Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur Article en page(s) : p.3764-3770 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Autism SETD2 Intellectual disability Whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2. En ligne : http://dx.doi.org/10.1007/s10803-015-2484-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770[article] Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy [texte imprimé] / Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur . - p.3764-3770.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770
Mots-clés : Autism spectrum disorder Autism SETD2 Intellectual disability Whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2. En ligne : http://dx.doi.org/10.1007/s10803-015-2484-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications / Jennifer M. BAIN in Journal of Neurodevelopmental Disorders, 14 (2022)
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Titre : Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications Type de document : texte imprimé Auteurs : Jennifer M. BAIN, Auteur ; LeeAnne Green SNYDER, Auteur ; Katherine L. HELBIG, Auteur ; Dominique D. COOPER, Auteur ; Wendy K. CHUNG, Auteur ; Kimberly GOODSPEED, Auteur Langues : Anglais (eng) Mots-clés : Autistic Disorder Epilepsy/genetics GABA Plasma Membrane Transport Proteins/genetics Humans Neurodevelopmental Disorders/genetics Parents Autism Epilepsy Genetic Hypotonia Intellectual disability Movement disorder Neurodevelopmental disorder SLC6A1 salary support for research from Simons Searchlight. The other authors declare that they have no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective review of published cases and available research databases including Epi25 collective and SLC6A1 Connect patient database, the phenotypic spectrum is broad and includes developmental delay, epilepsy, and autism or autistic traits. SLC6A1 is one of the genes included in the Simons Searchlight registry, which includes standardized data collection across genetically identified neurodevelopmental conditions. METHODS: In this study, we compare parent-report measures of phenotypic features in the Simons Searchlight registry to previously published, provider-reported cases to assess if parent-report measures are consistent with what has been reported in the literature. RESULTS: There were 116 participants in the provider-reported dataset compared to 43 individuals in the caregiver-reported dataset. Carriers in Searchlight had 83 unique pathogenic or likely pathogenic variants in SLC6A1, which were predominantly missense or nonsense variants. There was no significant difference between groups for the prevalence of developmental delay, ASD, or ADHD. Caregivers more often reported hypotonia, while epilepsy was slightly more frequently reported by providers. CONCLUSIONS: We propose that standardized parent-report data collection methods are consistent with provider reports on many core features of SLC6A1-related disorder. The availability of patient registries and standardized natural history studies may fill an important need in clinical trial readiness programs, with larger sample sizes than smaller published case series. En ligne : https://dx.doi.org/10.1186/s11689-022-09449-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574
in Journal of Neurodevelopmental Disorders > 14 (2022)[article] Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications [texte imprimé] / Jennifer M. BAIN, Auteur ; LeeAnne Green SNYDER, Auteur ; Katherine L. HELBIG, Auteur ; Dominique D. COOPER, Auteur ; Wendy K. CHUNG, Auteur ; Kimberly GOODSPEED, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 14 (2022)
Mots-clés : Autistic Disorder Epilepsy/genetics GABA Plasma Membrane Transport Proteins/genetics Humans Neurodevelopmental Disorders/genetics Parents Autism Epilepsy Genetic Hypotonia Intellectual disability Movement disorder Neurodevelopmental disorder SLC6A1 salary support for research from Simons Searchlight. The other authors declare that they have no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective review of published cases and available research databases including Epi25 collective and SLC6A1 Connect patient database, the phenotypic spectrum is broad and includes developmental delay, epilepsy, and autism or autistic traits. SLC6A1 is one of the genes included in the Simons Searchlight registry, which includes standardized data collection across genetically identified neurodevelopmental conditions. METHODS: In this study, we compare parent-report measures of phenotypic features in the Simons Searchlight registry to previously published, provider-reported cases to assess if parent-report measures are consistent with what has been reported in the literature. RESULTS: There were 116 participants in the provider-reported dataset compared to 43 individuals in the caregiver-reported dataset. Carriers in Searchlight had 83 unique pathogenic or likely pathogenic variants in SLC6A1, which were predominantly missense or nonsense variants. There was no significant difference between groups for the prevalence of developmental delay, ASD, or ADHD. Caregivers more often reported hypotonia, while epilepsy was slightly more frequently reported by providers. CONCLUSIONS: We propose that standardized parent-report data collection methods are consistent with provider reports on many core features of SLC6A1-related disorder. The availability of patient registries and standardized natural history studies may fill an important need in clinical trial readiness programs, with larger sample sizes than smaller published case series. En ligne : https://dx.doi.org/10.1186/s11689-022-09449-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress / Vanessa H. BAL in Autism Research, 14-6 (June 2021)
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Titre : Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress Type de document : texte imprimé Auteurs : Vanessa H. BAL, Auteur ; Ellen WILKINSON, Auteur ; L. Casey WHITE, Auteur ; J. Kiely LAW, Auteur ; Pamela FELICIANO, Auteur ; Wendy K. CHUNG, Auteur Article en page(s) : p.1209-1219 Langues : Anglais (eng) Mots-clés : Adolescent Adult Autistic Disorder/psychology COVID-19/epidemiology Female Health Surveys Hope Humans Internet Male Pandemics Psychological Distress Risk Assessment Stress, Psychological/psychology Young Adult COVID-19 pandemic adults co-morbid conditions gender/female ASD hope loneliness funding from Novartis, Roche, Pfizer, Biogen, Ipsen, LAM Therapeutics, Astellas, Bridgebio and Quadrant Biosciences and has served on the Scientific Advisory Boards for Sage Therapeutics, Roche, Celgene, Aeovian, Regenxbio and Takeda. Robin Kochel has a contract with Yamo Pharmaceuticals, Inc., to consult on the design of clinical trials for individuals with ASD. Suma Jacobs has been an investigator in multisite treatment trials by Roche and served on an autism advisory board for Roche. Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has disrupted lives around the world. Autistic adults are at higher risk for co-occurring medical and psychiatric conditions and may be more prone to difficulties adapting to pandemic-related changes and social distancing mandates and coping with ongoing uncertainties. On the other hand, the pandemic may lead to greater understanding and acceptance of accommodations in the broader community that may facilitate supports for autistic adults beyond the pandemic. To learn more about their early pandemic experiences, online surveys were sent to independent adults enrolled in the Simons Powering Autism Research Knowledge (SPARK). The first survey was open from March 30 to April 19, 2020; a follow-up survey sent to original responders was open from May 27 to June 6, yielding 396 participants with data for both surveys. We found that adults who were female, younger, had prior diagnoses of a mental health condition, personal COVID-19 experience (i.e., knowing someone who had symptoms or tested positive) or less frequent hope for the future reported the greatest negative impacts. Decrease in feelings of hopefulness over time predicted greater psychological distress at T2, accounting for T1 impact and distress levels and increases in total COVID-19 impact. Less perceived benefit of online services also predicted later distress. Although there tends to be a focus on coping with negative effects of the pandemic, mental health providers may consider approaches that focus on positives, such as fostering hope and understanding factors that facilitate benefit from online services. LAY SUMMARY: Autistic adults may be at risk for psychological distress during the COVID-19 pandemic. The current study suggests that autistic adults who were younger, female, had a mental health diagnosis before the pandemic and knew someone who showed symptoms or tested positive for COVID-19 reported more areas negatively impacted by COVID-19 and greater difficulty coping with those effects. Decreases in hope over time were associated with greater psychological distress. Less perceived benefit from online services also predicted distress 2 months later. These results suggest important areas to further explore as we develop supports for autistic adults during the pandemic. En ligne : http://dx.doi.org/10.1002/aur.2480 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-6 (June 2021) . - p.1209-1219[article] Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress [texte imprimé] / Vanessa H. BAL, Auteur ; Ellen WILKINSON, Auteur ; L. Casey WHITE, Auteur ; J. Kiely LAW, Auteur ; Pamela FELICIANO, Auteur ; Wendy K. CHUNG, Auteur . - p.1209-1219.
Langues : Anglais (eng)
in Autism Research > 14-6 (June 2021) . - p.1209-1219
Mots-clés : Adolescent Adult Autistic Disorder/psychology COVID-19/epidemiology Female Health Surveys Hope Humans Internet Male Pandemics Psychological Distress Risk Assessment Stress, Psychological/psychology Young Adult COVID-19 pandemic adults co-morbid conditions gender/female ASD hope loneliness funding from Novartis, Roche, Pfizer, Biogen, Ipsen, LAM Therapeutics, Astellas, Bridgebio and Quadrant Biosciences and has served on the Scientific Advisory Boards for Sage Therapeutics, Roche, Celgene, Aeovian, Regenxbio and Takeda. Robin Kochel has a contract with Yamo Pharmaceuticals, Inc., to consult on the design of clinical trials for individuals with ASD. Suma Jacobs has been an investigator in multisite treatment trials by Roche and served on an autism advisory board for Roche. Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has disrupted lives around the world. Autistic adults are at higher risk for co-occurring medical and psychiatric conditions and may be more prone to difficulties adapting to pandemic-related changes and social distancing mandates and coping with ongoing uncertainties. On the other hand, the pandemic may lead to greater understanding and acceptance of accommodations in the broader community that may facilitate supports for autistic adults beyond the pandemic. To learn more about their early pandemic experiences, online surveys were sent to independent adults enrolled in the Simons Powering Autism Research Knowledge (SPARK). The first survey was open from March 30 to April 19, 2020; a follow-up survey sent to original responders was open from May 27 to June 6, yielding 396 participants with data for both surveys. We found that adults who were female, younger, had prior diagnoses of a mental health condition, personal COVID-19 experience (i.e., knowing someone who had symptoms or tested positive) or less frequent hope for the future reported the greatest negative impacts. Decrease in feelings of hopefulness over time predicted greater psychological distress at T2, accounting for T1 impact and distress levels and increases in total COVID-19 impact. Less perceived benefit of online services also predicted later distress. Although there tends to be a focus on coping with negative effects of the pandemic, mental health providers may consider approaches that focus on positives, such as fostering hope and understanding factors that facilitate benefit from online services. LAY SUMMARY: Autistic adults may be at risk for psychological distress during the COVID-19 pandemic. The current study suggests that autistic adults who were younger, female, had a mental health diagnosis before the pandemic and knew someone who showed symptoms or tested positive for COVID-19 reported more areas negatively impacted by COVID-19 and greater difficulty coping with those effects. Decreases in hope over time were associated with greater psychological distress. Less perceived benefit from online services also predicted distress 2 months later. These results suggest important areas to further explore as we develop supports for autistic adults during the pandemic. En ligne : http://dx.doi.org/10.1002/aur.2480 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)
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PermalinkImpact of a Genetic Diagnosis for a Child?s Autism on Parental Perceptions / Anna KARLSEN ; Benjamin HUBER ; Alina LEVINE ; Amanie SALEM ; L. Casey WHITE ; Marti LUBY ; Ekaterina BEZBORODKO ; Sabrina XIAO ; Wendy K. CHUNG ; Robert L. KLITZMAN ; Paul S. APPELBAUM in Journal of Autism and Developmental Disorders, 55-5 (May 2025)
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PermalinkImpact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability / Robert L. KLITZMAN ; Ekaterina BEZBORODKO ; Wendy K. CHUNG ; Paul S. APPELBAUM in Journal of Autism and Developmental Disorders, 55-1 (January 2025)
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PermalinkImputing cognitive impairment in SPARK, a large autism cohort / Chang SHU in Autism Research, 15-1 (January 2022)
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PermalinkPsychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort / Eric FOMBONNE in Journal of Autism and Developmental Disorders, 50-10 (October 2020)
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PermalinkPsychotic symptoms in 16p11.2 copy-number variant carriers / Amandeep JUTLA in Autism Research, 13-2 (February 2020)
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