[PDF][PDF] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
…, L Schmitt, IMW Silva, T Singh, PM Siper, M Smith… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
[HTML][HTML] Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
S De Rubeis, PM Siper, A Durkin, J Weissman… - Molecular autism, 2018 - Springer
Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized
by psychiatric and neurological features. Most reported cases are caused by 22q13.3 …
by psychiatric and neurological features. Most reported cases are caused by 22q13.3 …
A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD
PM Siper, A Kolevzon, AT Wang, JD Buxbaum… - Autism …, 2017 - Wiley Online Library
… Paige M. Siper receives grant support from the NIH (R21 MH107839), Autism Speaks (grant
#8685) and the Beatrice and Samuel A. Seaver Foundation. Alexander Kolevzon receives …
#8685) and the Beatrice and Samuel A. Seaver Foundation. Alexander Kolevzon receives …
[HTML][HTML] Neuropsychological assessment in autism spectrum disorder
ML Braconnier, PM Siper - Current psychiatry reports, 2021 - Springer
Purpose of Review Neuropsychological assessment involves the comprehensive evaluation
of intellectual, attentional, executive, social-cognitive, language, and motor functioning. …
of intellectual, attentional, executive, social-cognitive, language, and motor functioning. …
Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder
LV Soorya, PM Siper, T Beck, S Soffes… - Journal of the American …, 2015 - Elsevier
Objective This study evaluated the efficacy of a targeted social skills training group in school-aged
children with autism spectrum disorder (ASD). The intervention, Seaver-NETT (…
children with autism spectrum disorder (ASD). The intervention, Seaver-NETT (…
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
…, JH Foss-Feig, C Betancur, PM Siper… - Human molecular …, 2022 - academic.oup.com
Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental,
medical, cognitive and behavioral abnormalities. Previous literature has begun to …
medical, cognitive and behavioral abnormalities. Previous literature has begun to …
Measuring sensory reactivity in autism spectrum disorder: application and simplification of a clinician-administered sensory observation scale
…, PM Siper, AT Wang, D Halpern, M Gorenstein… - Journal of Autism and …, 2016 - Springer
Sensory reactivity is a new DSM-5 criterion for autism spectrum disorder (ASD). The current
study aims to validate a clinician-administered sensory observation in ASD, the Sensory …
study aims to validate a clinician-administered sensory observation in ASD, the Sensory …
[HTML][HTML] Prospective investigation of FOXP1 syndrome
PM Siper, S De Rubeis, MP Trelles, A Durkin… - Molecular autism, 2017 - Springer
Background Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a
neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying …
neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying …
[PDF][PDF] Episignatures stratifying Helsmoortel-Van Der Aa syndrome show modest correlation with phenotype
Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated
with intellectual disability/developmental delay, autism spectrum disorder, and multiple …
with intellectual disability/developmental delay, autism spectrum disorder, and multiple …
[HTML][HTML] FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
R Lozano, C Gbekie, PM Siper, S Srivastava… - Journal of …, 2021 - Springer
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that
disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor …
disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor …