Detalhe da pesquisa
1.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
2.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
3.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366965
4.
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Clin Genet
; 97(3): 437-446, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721175
5.
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Epilepsia
; 59(5): 1062-1071, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655203
6.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
7.
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
Hum Mol Genet
; 19(17): 3383-93, 2010 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20570968
8.
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
Am J Med Genet A
; 158A(5): 1170-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488896
9.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Pediatr Neurol
; 126: 65-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740135
10.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med
; 27(7): 1197-1204, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059824
11.
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.
Genet Med
; 12(2): 85-92, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20084009
12.
Analytical validation of whole exome and whole genome sequencing for clinical applications.
BMC Med Genomics
; 7: 20, 2014 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24758382
13.
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.
Eur J Med Genet
; 56(11): 619-23, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24056159
14.
Effect of copy number variants on outcomes for infants with single ventricle heart defects.
Circ Cardiovasc Genet
; 6(5): 444-51, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021551
15.
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
Mol Autism
; 1(1): 5, 2010 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20678247
16.
The Lawc protein is required for proper transcription by RNA polymerase II in Drosophila.
Mol Genet Genomics
; 280(5): 385-96, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18716797