Detalhe da pesquisa
1.
Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.
BMC Med Inform Decis Mak
; 18(1): 91, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30400925
2.
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Am J Med Genet A
; 170A(5): 1165-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26887912
3.
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Am J Hum Genet
; 91(6): 1128-34, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217328
4.
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Am J Med Genet B Neuropsychiatr Genet
; 162B(8): 832-40, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24019301
5.
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
J Mol Diagn
; 25(9): 665-681, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419244
6.
The adult galactosemic phenotype.
J Inherit Metab Dis
; 35(2): 279-86, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779791
7.
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing.
J Mol Diagn
; 23(10): 1269-1278, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325058
8.
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.
J Card Fail
; 16(3): 194-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206892
9.
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Physiol Genomics
; 38(3): 281-90, 2009 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19509082
10.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC Genet
; 10: 66, 2009 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19835634
11.
Orthogonal NGS for High Throughput Clinical Diagnostics.
Sci Rep
; 6: 24650, 2016 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27090146
12.
Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
Beijing Da Xue Xue Bao Yi Xue Ban
; 37(1): 64-7, 2005 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-15719045
13.
Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.
Genet Test
; 7(4): 277-81, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-15000803
14.
Detection of copy number variants reveals association of cilia genes with neural tube defects.
PLoS One
; 8(1): e54492, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349908
15.
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clin Chem
; 53(12): 2051-9, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17901113
16.
Atypical cases of Angelman syndrome.
Am J Med Genet A
; 140(21): 2361-4, 2006 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17036311
17.
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
Am J Med Genet A
; 121A(2): 102-8, 2003 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12910486
18.
Intracytoplasmic sperm injection may increase the risk of imprinting defects.
Am J Hum Genet
; 71(1): 162-4, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12016591
19.
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Genet Med
; 4(4): 279-88, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12172394