Detalhe da pesquisa
1.
Impact of variant reclassification in the clinical setting of cardiovascular genetics.
J Genet Couns
; 30(2): 503-512, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029862
2.
Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.
J Health Commun
; 24(4): 377-384, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060454
3.
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Am J Med Genet A
; 173(4): 1056-1060, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328127
4.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
5.
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
6.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206336
7.
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Am J Med Genet A
; 158A(8): 1924-33, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786685
8.
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Am J Med Genet A
; 158A(11): 2925-30, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987822
9.
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.
BMC Med Genomics
; 15(1): 56, 2022 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35287663
10.
Newborn and carrier screening for spinal muscular atrophy.
Am J Med Genet A
; 152A(7): 1608-16, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20578137
11.
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Eur J Med Genet
; 63(1): 103636, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836150
12.
Mutation screening in juvenile polyposis syndrome.
J Mol Diagn
; 8(1): 84-8, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16436638
13.
Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix.
Pediatr Dev Pathol
; 18(1): 59-65, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25299246
14.
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Mol Genet Genomic Med
; 3(2): 99-110, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802880
15.
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Eur J Med Genet
; 57(7): 315-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821304
16.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet
; 22(1): 57-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632792
17.
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
Eur J Med Genet
; 56(9): 521-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23895773
18.
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
Forensic Sci Int Genet
; 7(5): 475-81, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23948316
19.
Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.
Clin Lab Med
; 31(4): 565-80, viii, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22118737
20.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
J Mol Diagn
; 13(2): 167-74, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21354051