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1.
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Hum Mol Genet
; 31(15): 2582-2594, 2022 08 17.
Article
in English
| MEDLINE | ID: mdl-35271727
2.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet
; 31(4): 625-637, 2022 02 21.
Article
in English
| MEDLINE | ID: mdl-34559195
3.
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Hum Genet
; 142(9): 1385-1394, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37454340
4.
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
BMC Med Genet
; 15: 35, 2014 Mar 20.
Article
in English
| MEDLINE | ID: mdl-24650168
5.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
J Neurodev Disord
; 16(1): 25, 2024 May 10.
Article
in English
| MEDLINE | ID: mdl-38730350
6.
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Pediatr Neurol
; 138: 87-94, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36434914
7.
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
Front Neurosci
; 16: 815933, 2022.
Article
in English
| MEDLINE | ID: mdl-35592263
8.
Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.
J Am Acad Child Adolesc Psychiatry
; 61(4): 565-574.e1, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34303785
9.
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome.
HGG Adv
; 3(4): 100138, 2022 Oct 13.
Article
in English
| MEDLINE | ID: mdl-36119806
10.
Social cognitive skills groups increase medial prefrontal cortex activity in children with autism spectrum disorder.
Autism Res
; 14(12): 2495-2511, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34486810
11.
Neurocognitive Outcomes from Memantine: A Pilot, Double-Blind, Placebo-Controlled Trial in Children with Autism Spectrum Disorder.
J Child Adolesc Psychopharmacol
; 31(7): 475-484, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34543081
12.
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Mol Autism
; 12(1): 61, 2021 09 29.
Article
in English
| MEDLINE | ID: mdl-34588003
13.
Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.
J Neurodev Disord
; 13(1): 58, 2021 12 04.
Article
in English
| MEDLINE | ID: mdl-34863106
14.
Reduced engagement of visual attention in children with autism spectrum disorder.
Autism
; 25(7): 2064-2073, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33966481
15.
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
Genes (Basel)
; 12(3)2021 02 27.
Article
in English
| MEDLINE | ID: mdl-33673501
16.
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Mol Autism
; 12(1): 36, 2021 05 16.
Article
in English
| MEDLINE | ID: mdl-33993884
17.
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
Mol Autism
; 9: 31, 2018.
Article
in English
| MEDLINE | ID: mdl-29719671
18.
Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale.
J Autism Dev Disord
; 46(1): 287-293, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26340959
19.
Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.
Mol Autism
; 6: 31, 2015.
Article
in English
| MEDLINE | ID: mdl-26034557
20.
Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder.
J Am Acad Child Adolesc Psychiatry
; 54(3): 208-216.e1, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25721186