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1.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Circ Res
; 128(8): 1156-1169, 2021 04 16.
Article
in English
| MEDLINE | ID: mdl-33557580
2.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Hum Mutat
; 39(6): 870-881, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29527824
3.
Robust identification of mosaic variants in congenital heart disease.
Hum Genet
; 137(2): 183-193, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29417219
4.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Circ Res
; 115(10): 884-896, 2014 Oct 24.
Article
in English
| MEDLINE | ID: mdl-25205790
5.
CANOES: detecting rare copy number variants from whole exome sequencing data.
Nucleic Acids Res
; 42(12): e97, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24771342
6.
Remote Cardiac Safety Monitoring through the Lens of the FDA Biomarker Qualification Evidentiary Criteria Framework: A Case Study Analysis.
Digit Biomark
; 5(1): 103-113, 2021.
Article
in English
| MEDLINE | ID: mdl-34056520
7.
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
Circ Genom Precis Med
; 13(4): e002836, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32812804
8.
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Nat Genet
; 52(8): 769-777, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32601476
9.
Continuous Monitoring Using a Wearable Device Detects Activity-Induced Heart Rate Changes After Administration of Amphetamine.
Clin Transl Sci
; 12(6): 677-686, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31365190
10.
Paternal-age-related de novo mutations and risk for five disorders.
Nat Commun
; 10(1): 3043, 2019 07 10.
Article
in English
| MEDLINE | ID: mdl-31292440
11.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nat Genet
; 49(11): 1593-1601, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28991257
12.
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
Dev Cell
; 39(4): 480-490, 2016 11 21.
Article
in English
| MEDLINE | ID: mdl-27840107
13.
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
Nat Commun
; 7: 12824, 2016 09 27.
Article
in English
| MEDLINE | ID: mdl-27670201
14.
Interpreting de novo Variation in Human Disease Using denovolyzeR.
Curr Protoc Hum Genet
; 87: 7.25.1-7.25.15, 2015 Oct 06.
Article
in English
| MEDLINE | ID: mdl-26439716
15.
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Science
; 349(6251): 982-6, 2015 Aug 28.
Article
in English
| MEDLINE | ID: mdl-26315439
16.
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Science
; 350(6265): 1262-6, 2015 Dec 04.
Article
in English
| MEDLINE | ID: mdl-26785492
17.
Digital Droplet PCR: CNV Analysis and Other Applications.
Curr Protoc Hum Genet
; 82: 7.24.1-7.24.13, 2014 Jul 14.
Article
in English
| MEDLINE | ID: mdl-25042719
18.
Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells.
Nat Commun
; 5: 5507, 2014 Nov 26.
Article
in English
| MEDLINE | ID: mdl-25425480
19.
JNK signaling coordinates integrin and actin functions during Drosophila embryogenesis.
Dev Dyn
; 235(2): 427-34, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16317725
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