Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559195
3.
Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder.
N Engl J Med
; 385(16): 1462-1473, 2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34644471
4.
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Am J Med Genet C Semin Med Genet
; 193(3): e32058, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534867
5.
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Hum Genet
; 142(9): 1385-1394, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454340
6.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Am J Hum Genet
; 107(3): 555-563, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758449
7.
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Am J Med Genet A
; 191(7): 1741-1757, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045800
8.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
9.
Enhancing Child and Adolescent Psychiatry Recruitment Through a Medical Student Mentorship Network: A Qualitative Study.
Acad Psychiatry
; 47(2): 124-133, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123518
10.
Cancer risk in individuals with intellectual disability in Sweden: A population-based cohort study.
PLoS Med
; 18(10): e1003840, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34673770
11.
Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature
; 515(7526): 209-15, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363760
12.
Heightened brain response to pain anticipation in high-functioning adults with autism spectrum disorder.
Eur J Neurosci
; 47(6): 592-601, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28452081
13.
Autonomic and brain responses associated with empathy deficits in autism spectrum disorder.
Hum Brain Mapp
; 36(9): 3323-38, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25995134
14.
Differential Effects of Oxytocin on Agency and Communion for Anxiously and Avoidantly Attached Individuals.
Psychol Sci
; 26(8): 1177-86, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122122
15.
Abnormal autonomic and associated brain activities during rest in autism spectrum disorder.
Brain
; 137(Pt 1): 153-71, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424916
16.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Nature
; 459(7246): 569-73, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404257
17.
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Hum Mol Genet
; 21(21): 4781-92, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843504
18.
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
BMC Med Genet
; 15: 35, 2014 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650168
19.
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome.
Orphanet J Rare Dis
; 19(1): 134, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532502
20.
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
medRxiv
; 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352457