Detalhe da pesquisa
1.
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Am J Nephrol
; 53(4): 297-306, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325889
2.
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Am J Med Genet A
; 188(10): 3016-3023, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903967
3.
Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
Am J Med Genet A
; 182(9): 2124-2128, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588558
4.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
5.
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.
Am J Med Genet A
; 176(11): 2237-2242, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30195254
6.
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Am J Med Genet A
; 173(5): 1319-1327, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28296084
7.
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
Pediatr Blood Cancer
; 64(1): 100-102, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577987
8.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542077
9.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082829
10.
TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer.
BMC Cancer
; 15: 22, 2015 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25632947
11.
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Genet Med
; 16(7): 510-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406459
12.
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
BMC Med Genet
; 15: 11, 2014 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24444108
13.
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
BMC Med Genet
; 15: 49, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886118
14.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA
; 312(18): 1880-7, 2014 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326637
15.
Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766118
16.
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.
Mol Vis
; 19: 980-5, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687434
17.
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
BMC Med Genet
; 13: 67, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863181
18.
Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.
Transl Vis Sci Technol
; 11(3): 33, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348597
19.
A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.
Front Genet
; 12: 608889, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046054
20.
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
HGG Adv
; 1(1)2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33718894