Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
3.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
4.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
5.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
6.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198722
7.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100085
8.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343629
9.
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Genet Med
; 21(7): 1652-1656, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568308
10.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158690
11.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439725
12.
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Am J Med Genet A
; 173(9): 2415-2421, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742282
13.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304375
14.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
15.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Am J Med Genet A
; 170(7): 1791-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133397
16.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Hum Mutat
; 34(2): 385-94, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161826
17.
Clinical comparison of overlapping deletions of 19p13.3.
Am J Med Genet A
; 161A(5): 1110-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23610052
18.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848651
19.
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Hum Genet
; 126(4): 589-602, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19557438
20.
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Clin Case Rep
; 6(7): 1208-1213, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988648