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Auteur Joseph D. BUXBAUM |
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Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms / M. P. TRELLES in Molecular Autism, 12 (2021)
[article]
Titre : Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms Type de document : Texte imprimé et/ou numérique Auteurs : M. P. TRELLES, Auteur ; T. LEVY, Auteur ; B. LERMAN, Auteur ; P. SIPER, Auteur ; R. LOZANO, Auteur ; Danielle B. HALPERN, Auteur ; H. WALKER, Auteur ; J. ZWEIFACH, Auteur ; Y. FRANK, Auteur ; J. FOSS-FEIG, Auteur ; A. KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : 61 p. Langues : Anglais (eng) Mots-clés : Anxiety Attention-deficit/hyperactivity disorder Autism spectrum disorder FOXP1 gene FOXP1 syndrome Intellectual disability Neurodevelopment Therapeutics, Acadia, Alkermes, Sema4, and Ritrova. PMS and Mount Sinai licensed the Sensory Assessment for Neurodevelopmental Disorders (SAND) developed by PMS to Stoelting, Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors. METHODS: Here, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible. RESULTS: Previous observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common. LIMITATIONS: As FOXP1 syndrome is a rare disorder, sample size is limited. CONCLUSIONS: These findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals. En ligne : http://dx.doi.org/10.1186/s13229-021-00469-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 61 p.[article] Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms [Texte imprimé et/ou numérique] / M. P. TRELLES, Auteur ; T. LEVY, Auteur ; B. LERMAN, Auteur ; P. SIPER, Auteur ; R. LOZANO, Auteur ; Danielle B. HALPERN, Auteur ; H. WALKER, Auteur ; J. ZWEIFACH, Auteur ; Y. FRANK, Auteur ; J. FOSS-FEIG, Auteur ; A. KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur . - 61 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 61 p.
Mots-clés : Anxiety Attention-deficit/hyperactivity disorder Autism spectrum disorder FOXP1 gene FOXP1 syndrome Intellectual disability Neurodevelopment Therapeutics, Acadia, Alkermes, Sema4, and Ritrova. PMS and Mount Sinai licensed the Sensory Assessment for Neurodevelopmental Disorders (SAND) developed by PMS to Stoelting, Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors. METHODS: Here, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible. RESULTS: Previous observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common. LIMITATIONS: As FOXP1 syndrome is a rare disorder, sample size is limited. CONCLUSIONS: These findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals. En ligne : http://dx.doi.org/10.1186/s13229-021-00469-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay / Ozlem BOZDAGI in Molecular Autism, (April 2013)
[article]
Titre : Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay Type de document : Texte imprimé et/ou numérique Auteurs : Ozlem BOZDAGI, Auteur ; Teresa TAVASSOLI, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : Pharmacotherapy Personalized medicine Individualized medicine 22q13 deletion syndrome Phelan-McDermid syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND:Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay.FINDINGS:We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well.CONCLUSIONS:We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (April 2013) . - 4 p.[article] Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay [Texte imprimé et/ou numérique] / Ozlem BOZDAGI, Auteur ; Teresa TAVASSOLI, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - 4 p.
Langues : Anglais (eng)
in Molecular Autism > (April 2013) . - 4 p.
Mots-clés : Pharmacotherapy Personalized medicine Individualized medicine 22q13 deletion syndrome Phelan-McDermid syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND:Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay.FINDINGS:We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well.CONCLUSIONS:We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism / D. M. JAMES in Molecular Autism, 10 (2019)
[article]
Titre : Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism Type de document : Texte imprimé et/ou numérique Auteurs : D. M. JAMES, Auteur ; R. A. KOZOL, Auteur ; Y. KAJIWARA, Auteur ; A. L. WAHL, Auteur ; E. C. STORRS, Auteur ; Joseph D. BUXBAUM, Auteur ; M. KLEIN, Auteur ; B. MOSHIREE, Auteur ; J. E. DALLMAN, Auteur Article en page(s) : 3 p. Langues : Anglais (eng) Mots-clés : *Digestive transit *Enteroendocrine *Peristaltic rate *Phelan-McDermid syndrome approved by the Institutional Animal Care and Use Committee of University of Miami.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background and aims: Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occurring symptom. Here, we investigate the physiological basis for GI distress in ASD by studying gut function in a zebrafish model of Phelan-McDermid syndrome (PMS), a condition caused by mutations in the SHANK3 gene. Methods: To generate a zebrafish model of PMS, we used CRISPR/Cas9 to introduce clinically related C-terminal frameshift mutations in shank3a and shank3b zebrafish paralogues (shank3abDeltaC). Because PMS is caused by SHANK3 haploinsufficiency, we assessed the digestive tract (DT) structure and function in zebrafish shank3abDeltaC (+/-) heterozygotes. Human SHANK3 mRNA was then used to rescue DT phenotypes in larval zebrafish. Results: Significantly slower rates of DT peristaltic contractions (p < 0.001) with correspondingly prolonged passage time (p < 0.004) occurred in shank3abDeltaC (+/-) mutants. Rescue injections of mRNA encoding the longest human SHANK3 isoform into shank3abDeltaC (+/-) mutants produced larvae with intestinal bulb emptying similar to wild type (WT), but still deficits in posterior intestinal motility. Serotonin-positive enteroendocrine cells (EECs) were significantly reduced in both shank3abDeltaC (+/-) and shank3abDeltaC (-/-) mutants (p < 0.05) while enteric neuron counts and overall structure of the DT epithelium, including goblet cell number, were unaffected in shank3abDeltaC (+/-) larvae. Conclusions: Our data and rescue experiments support mutations in SHANK3 as causal for GI transit and motility abnormalities. Reductions in serotonin-positive EECs and serotonin-filled ENS boutons suggest an endocrine/neural component to this dysmotility. This is the first study to date demonstrating DT dysmotility in a zebrafish single gene mutant model of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0250-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 3 p.[article] Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism [Texte imprimé et/ou numérique] / D. M. JAMES, Auteur ; R. A. KOZOL, Auteur ; Y. KAJIWARA, Auteur ; A. L. WAHL, Auteur ; E. C. STORRS, Auteur ; Joseph D. BUXBAUM, Auteur ; M. KLEIN, Auteur ; B. MOSHIREE, Auteur ; J. E. DALLMAN, Auteur . - 3 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 3 p.
Mots-clés : *Digestive transit *Enteroendocrine *Peristaltic rate *Phelan-McDermid syndrome approved by the Institutional Animal Care and Use Committee of University of Miami.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background and aims: Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occurring symptom. Here, we investigate the physiological basis for GI distress in ASD by studying gut function in a zebrafish model of Phelan-McDermid syndrome (PMS), a condition caused by mutations in the SHANK3 gene. Methods: To generate a zebrafish model of PMS, we used CRISPR/Cas9 to introduce clinically related C-terminal frameshift mutations in shank3a and shank3b zebrafish paralogues (shank3abDeltaC). Because PMS is caused by SHANK3 haploinsufficiency, we assessed the digestive tract (DT) structure and function in zebrafish shank3abDeltaC (+/-) heterozygotes. Human SHANK3 mRNA was then used to rescue DT phenotypes in larval zebrafish. Results: Significantly slower rates of DT peristaltic contractions (p < 0.001) with correspondingly prolonged passage time (p < 0.004) occurred in shank3abDeltaC (+/-) mutants. Rescue injections of mRNA encoding the longest human SHANK3 isoform into shank3abDeltaC (+/-) mutants produced larvae with intestinal bulb emptying similar to wild type (WT), but still deficits in posterior intestinal motility. Serotonin-positive enteroendocrine cells (EECs) were significantly reduced in both shank3abDeltaC (+/-) and shank3abDeltaC (-/-) mutants (p < 0.05) while enteric neuron counts and overall structure of the DT epithelium, including goblet cell number, were unaffected in shank3abDeltaC (+/-) larvae. Conclusions: Our data and rescue experiments support mutations in SHANK3 as causal for GI transit and motility abnormalities. Reductions in serotonin-positive EECs and serotonin-filled ENS boutons suggest an endocrine/neural component to this dysmotility. This is the first study to date demonstrating DT dysmotility in a zebrafish single gene mutant model of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0250-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder / Jacquelin RANKINE in Journal of Autism and Developmental Disorders, 47-6 (June 2017)
[article]
Titre : Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jacquelin RANKINE, Auteur ; Erin LI, Auteur ; Stacey LURIE, Auteur ; Hillary RIEGER, Auteur ; Emily FOURIE, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.1605-1617 Langues : Anglais (eng) Mots-clés : Phelan-McDermid syndrome 22q13 deletion syndrome Autism spectrum disorder Automated vocal analysis Language ENvironment Analysis Minimally verbal Index. décimale : PER Périodiques Résumé : Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3082-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308
in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1605-1617[article] Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Jacquelin RANKINE, Auteur ; Erin LI, Auteur ; Stacey LURIE, Auteur ; Hillary RIEGER, Auteur ; Emily FOURIE, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - p.1605-1617.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1605-1617
Mots-clés : Phelan-McDermid syndrome 22q13 deletion syndrome Autism spectrum disorder Automated vocal analysis Language ENvironment Analysis Minimally verbal Index. décimale : PER Périodiques Résumé : Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3082-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308 A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders / Takeshi SAKURAI in Autism Research, 1-4 (August 2008)
[article]
Titre : A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Takeshi SAKURAI, Auteur ; Jennifer REICHERT, Auteur ; Joseph D. BUXBAUM, Auteur ; Ellen J. HOFFMAN, Auteur ; Guiqing CAI, Auteur ; Hywel B. JONES, Auteur ; Malek FAHAM, Auteur Année de publication : 2008 Article en page(s) : p.251-257 Langues : Anglais (eng) Mots-clés : resequencing rare-variants serotonin rigid-compulsive-behavior Index. décimale : PER Périodiques Résumé : In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders (350) and controls (420) and screened for rare exonic variants in SLC6A4 by a high-throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders. En ligne : http://dx.doi.org/10.1002/aur.30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932
in Autism Research > 1-4 (August 2008) . - p.251-257[article] A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders [Texte imprimé et/ou numérique] / Takeshi SAKURAI, Auteur ; Jennifer REICHERT, Auteur ; Joseph D. BUXBAUM, Auteur ; Ellen J. HOFFMAN, Auteur ; Guiqing CAI, Auteur ; Hywel B. JONES, Auteur ; Malek FAHAM, Auteur . - 2008 . - p.251-257.
Langues : Anglais (eng)
in Autism Research > 1-4 (August 2008) . - p.251-257
Mots-clés : resequencing rare-variants serotonin rigid-compulsive-behavior Index. décimale : PER Périodiques Résumé : In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders (350) and controls (420) and screened for rare exonic variants in SLC6A4 by a high-throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders. En ligne : http://dx.doi.org/10.1002/aur.30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932 A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region / L. Alison MCINNES in Molecular Autism, (March 2010)
PermalinkMeasuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale / Teresa TAVASSOLI in Journal of Autism and Developmental Disorders, 46-1 (January 2016)
PermalinkMolecular Autism: accelerating and integrating research into neurodevelopmental conditions / Joseph D. BUXBAUM in Molecular Autism, (February 2010)
PermalinkNeural selectivity for communicative auditory signals in Phelan-McDermid syndrome / A. Ting WANG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
PermalinkNeuropathology of the posteroinferior occipitotemporal gyrus in children with autism / Neha UPPAL in Molecular Autism, (February 2014)
PermalinkNeuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature / A. KOLEVZON in Molecular Autism, 10 (2019)
PermalinkNext-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders / Guiqing CAI
PermalinkNo evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set / Kristina ALLEN-BRADY in Autism Research, 4-4 (August 2011)
PermalinkOptimizing the phenotyping of rodent ASD models: Enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features / Joseph D. BUXBAUM in Molecular Autism, (February 2012)
PermalinkPhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring / A. KOLEVZON in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
PermalinkPhenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID / Daniela M. COCHOY in Molecular Autism, (April 2015)
PermalinkA pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, (December 2014)
PermalinkPrevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder / B. MAHJANI in Molecular Autism, 12 (2021)
PermalinkA proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome / S. SETHURAM in Molecular Autism, 13 (2022)
PermalinkProspective and detailed behavioral phenotyping in DDX3X syndrome / L. TANG in Molecular Autism, 12 (2021)
PermalinkProspective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency / Latha V. SOORYA in Molecular Autism, (June 2013)
PermalinkPermalinkPsychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome / Kellie GERGOUDIS in Autism Research, 13-8 (August 2020)
PermalinkA randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome / J. FASTMAN in Molecular Autism, 12 (2021)
PermalinkReduced brain volume and white matter alterations in Shank3-deficient rats / C. E. M. GOLDEN in Autism Research, 14-9 (September 2021)
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