Detalhe da pesquisa
1.
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes.
Prenat Diagn
; 44(5): 586-594, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558419
2.
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Am J Med Genet A
; 191(7): 1978-1983, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37134191
3.
Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results.
Am J Med Genet A
; 182(11): 2666-2670, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798301
4.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915380
5.
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Am J Med Genet A
; 176(9): 1956-1963, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088856
6.
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Genet Med
; 19(3): 294-296, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854359
7.
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
8.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Nat Genet
; 38(9): 1038-42, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906162
9.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
10.
Four-copy number intervals in SNP microarray analysis: unique patterns and positions.
Cytogenet Genome Res
; 144(2): 92-103, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25401283
11.
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
12.
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Am J Med Genet A
; 161A(4): 822-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495222
13.
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.
Nat Genet
; 30(1): 106-9, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11731796
14.
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.
Mol Cytogenet
; 16(1): 10, 2023 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301962
15.
Prader-Willi syndrome.
Genet Med
; 14(1): 10-26, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237428
16.
Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta).
PLoS Genet
; 5(1): e1000346, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165326
17.
Fatal Henoch-Schönlein purpura in an adult with Dieulafoy lesions.
J Clin Rheumatol
; 18(5): 253-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832298
18.
Inverted duplications on acentric markers: mechanism of formation.
Hum Mol Genet
; 18(12): 2241-56, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19336476
19.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Hum Genet
; 130(4): 517-28, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21359847
20.
UPD detection using homozygosity profiling with a SNP genotyping microarray.
Am J Med Genet A
; 155A(4): 757-68, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594998