Detalhe da pesquisa
1.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell
; 185(23): 4409-4427.e18, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368308
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
3.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Nature
; 586(7827): 80-86, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717741
4.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
5.
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
J Med Genet
; 60(12): 1153-1160, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290907
6.
Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review.
Clin Genet
; 104(2): 163-173, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37098443
7.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899837
8.
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.
Am J Med Genet A
; 185(4): 1120-1130, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474825
9.
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 22(10): 1731-1732, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728138
10.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 21(11): 2413-2421, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182824
11.
Global developmental delay and a de novo deletion of the 16p13.13 region.
BMJ Case Rep
; 17(2)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423574
12.
Developmental implications of genetic testing for physical indications.
Eur J Hum Genet
; 30(11): 1297-1300, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068265
13.
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
NPJ Genom Med
; 4: 9, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044088
14.
A large data resource of genomic copy number variation across neurodevelopmental disorders.
NPJ Genom Med
; 4: 26, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602316
15.
Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder.
Patient Educ Couns
; 101(2): 352-361, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803755
16.
Does personal genome testing drive service utilization in an adult preventive medicine clinic?
J Community Genet
; 8(3): 151-158, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374280
17.
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.
NPJ Genom Med
; 22017 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649445
18.
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Mol Autism
; 8: 59, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152164
19.
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.
NPJ Genom Med
; 2: 28, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263838
20.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Nat Neurosci
; 20(4): 602-611, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263302