Detalhe da pesquisa
1.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
2.
Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.
J Genet Couns
; 30(1): 229-236, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706166
3.
Abnormal Microarray, Clinical Outcomes, and Surgical Risk Scores in Young Children with Cardiac Disease.
Pediatr Cardiol
; 42(8): 1785-1791, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160654
4.
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
BMC Med Genet
; 18(1): 60, 2017 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577551
5.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645542
6.
Cardiac Evaluation of Children With a Family History of Sudden Death.
J Am Coll Cardiol
; 74(6): 759-770, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395126
7.
A Case for Inclusion of Genetic Counselors in Cardiac Care.
Cardiol Rev
; 24(2): 49-55, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26186385
8.
Reply: Familial Hypercholesterolemia Causes Sudden Death.
J Am Coll Cardiol
; 74(23): 2952-2953, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31806143
9.
Who are you going to call? Primary care patients' disclosure decisions regarding direct-to-consumer genetic testing.
Narrat Inq Bioeth
; 4(1): 53-68, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24748260
10.
Primary care patients' views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study.
J Community Genet
; 4(4): 495-505, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23832288
11.
Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.
Ann Neurol
; 59(1): 21-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16278862
12.
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Am J Hum Genet
; 78(1): 78-88, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16385451