Detalhe da pesquisa
1.
Genomic Patterns of De Novo Mutation in Simplex Autism.
Cell
; 171(3): 710-722.e12, 2017 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965761
2.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998929
3.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
4.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633740
5.
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
N Engl J Med
; 380(15): 1421-1432, 2019 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970187
6.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
PLoS Genet
; 15(3): e1008075, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917130
7.
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Am J Hum Genet
; 98(1): 45-57, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749307
8.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
9.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
10.
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Genome Res
; 26(11): 1453-1467, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27803192
11.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Genet Med
; 21(7): 1611-1620, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504930
12.
Brain white matter structure and COMT gene are linked to second-language learning in adults.
Proc Natl Acad Sci U S A
; 113(26): 7249-54, 2016 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27298360
13.
Copy-number variation and false positive prenatal aneuploidy screening results.
N Engl J Med
; 372(17): 1639-45, 2015 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25830323
14.
Characteristics of de novo structural changes in the human genome.
Genome Res
; 25(6): 792-801, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25883321
15.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Nature
; 485(7397): 246-50, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495309
16.
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Am J Hum Genet
; 94(3): 415-25, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24581740
17.
Genome structural variation discovery and genotyping.
Nat Rev Genet
; 12(5): 363-76, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21358748
18.
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 381-389, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332277
19.
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Am J Hum Genet
; 92(2): 221-37, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375656
20.
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Am J Hum Genet
; 93(4): 697-710, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094746