Detalhe da pesquisa
1.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet
; 105(6): 1102-1111, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679651
2.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087610
3.
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Am J Perinatol
; 34(4): 340-348, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27533100
4.
Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.
Genet Med
; 18(10): 1052-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913922
5.
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Genet Med
; 15(6): 450-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23238528
6.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
7.
Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.
Mol Genet Metab
; 106(2): 221-30, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22494545
8.
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Prenat Diagn
; 32(4): 351-61, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22467166
9.
Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.
Mol Genet Metab
; 103(2): 148-52, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21482165
10.
Molecular characterization of CPS1 deletions by array CGH.
Mol Genet Metab
; 102(1): 103-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20855223
11.
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
12.
Challenges in clinical interpretation of microduplications detected by array CGH analysis.
Am J Med Genet A
; 152A(5): 1089-100, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425815
13.
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Am J Med Genet A
; 152A(5): 1111-26, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20340098
14.
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Am J Med Genet A
; 146A(17): 2242-51, 2008 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18663743
15.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934986
16.
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Eur J Hum Genet
; 22(1): 79-87, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23695279
17.
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
Eur J Hum Genet
; 19(1): 43-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20717166
18.
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
J Mol Diagn
; 11(3): 226-37, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324990
19.
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenat Diagn
; 29(1): 29-39, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19012303