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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Molecular autism, 2018-04, Vol.9 (1), p.31-20, Article 31

2018

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Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials

PloS one, 2016-10, Vol.11 (10), p.e0164422-e0164422

2016

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10.2 NEUROPSYCHOLOGICAL ASSESSMENT AND GOAL-STANDARD DIAGNOSTIC INSTRUMENTS

Journal of the American Academy of Child and Adolescent Psychiatry, 2016-10, Vol.55 (10), p.S16-S16

2016

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Randomized Comparative Trial of a Social Cognitive Skills Group for Children With Autism Spectrum Disorder

Journal of the American Academy of Child and Adolescent Psychiatry, 2015-03, Vol.54 (3), p.208-216.e1

2015

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FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Journal of neurodevelopmental disorders, 2021-04, Vol.13 (1), p.18-18, Article 18

2021

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Prospective investigation of FOXP1 syndrome

Molecular autism, 2017-10, Vol.8 (1), p.57-57, Article 57

2017

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Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD

Genes, 2021-06, Vol.12 (7), p.977

2021

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Prospective and detailed behavioral phenotyping in DDX3X syndrome

Molecular autism, 2021-05, Vol.12 (1), p.36-36, Article 36

2021

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Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome

Frontiers in neuroscience, 2022-05, Vol.16, p.815933-815933

2022

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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Journal of neurodevelopmental disorders, 2024-05, Vol.16 (1), p.25-12, Article 25

2024

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Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.58-58, Article 58

2021

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Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis

Genes, 2021-02, Vol.12 (3), p.351

2021

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An Open-Label Study Evaluating the Safety, Behavioral, and Electrophysiological Outcomes of Low-Dose Ketamine in Children with ADNP Syndrome

HGG advances, 2022-10, Vol.3 (4), p.100138-100138, Article 100138

2022

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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Molecular autism, 2021-04, Vol.12 (1), p.29-12, Article 29

2021

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Neuropsychological Assessment in Autism Spectrum Disorder

Current psychiatry reports, 2021-10, Vol.23 (10), p.63-63, Article 63

2021

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CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Human molecular genetics, 2022-08, Vol.31 (15), p.2582-2594

2022

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Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

Human genetics, 2023-09, Vol.142 (9), p.1385-1394

2023

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Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Human molecular genetics, 2022-02, Vol.31 (4), p.625-637

2022

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Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism

Journal of autism and developmental disorders, 2024-02, Vol.54 (2), p.794-802

2024

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Objective frequency analysis of transient visual evoked potentials in autistic children

Autism research, 2022-03, Vol.15 (3), p.464-480

2022

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A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD

Autism research, 2017-06, Vol.10 (6), p.1133-1140

2017

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DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

Pediatric neurology, 2023-01, Vol.138, p.87-94

2023

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Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

American journal of human genetics, 2020-09, Vol.107 (3), p.555-563

2020

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Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale

Journal of autism and developmental disorders, 2016-01, Vol.46 (1), p.287-293

2016

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Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

Journal of the American Academy of Child and Adolescent Psychiatry, 2022-04, Vol.61 (4), p.565-574.e1

2022

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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials

10.2 NEUROPSYCHOLOGICAL ASSESSMENT AND GOAL-STANDARD DIAGNOSTIC INSTRUMENTS

Randomized Comparative Trial of a Social Cognitive Skills Group for Children With Autism Spectrum Disorder

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Prospective investigation of FOXP1 syndrome

Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD

Prospective and detailed behavioral phenotyping in DDX3X syndrome

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis

An Open-Label Study Evaluating the Safety, Behavioral, and Electrophysiological Outcomes of Low-Dose Ketamine in Children with ADNP Syndrome

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Neuropsychological Assessment in Autism Spectrum Disorder

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism

Objective frequency analysis of transient visual evoked potentials in autistic children

A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD

DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

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