Detalhe da pesquisa
1.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
2.
A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review.
Am J Med Genet A
; 185(6): 1864-1869, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33759348
3.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595809
4.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(10): 1298, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377334
5.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389922
6.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(11): 1486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419820
7.
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.
Genet Med
; 19(6): 715-718, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27763634
8.
Multiple means to the same end: the genetic basis of acquired stress resistance in yeast.
PLoS Genet
; 7(11): e1002353, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102822
9.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.
Mol Cytogenet
; 15(1): 10, 2022 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248119
10.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
J Autism Dev Disord
; 52(11): 4828-4842, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773222
11.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065284
12.
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Birth Defects Res
; 112(19): 1733-1737, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935482
13.
Impact of nonsense-mediated mRNA decay on the global expression profile of budding yeast.
PLoS Genet
; 2(11): e203, 2006 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-17166056
14.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn
; 21(1): 38-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577886
15.
Nutritional control of epigenetic processes in yeast and human cells.
Genetics
; 195(3): 831-44, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23979574
16.
Cellular memory of acquired stress resistance in Saccharomyces cerevisiae.
Genetics
; 192(2): 495-505, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22851651
17.
Ebs1p, a negative regulator of gene expression controlled by the Upf proteins in the yeast Saccharomyces cerevisiae.
Eukaryot Cell
; 5(2): 301-12, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16467471