Annabelle Enriquez
Overview
Explore the profile of Annabelle Enriquez including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
239
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0
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Recent Articles
1.
Alankarage D, Enriquez A, Steiner R, Raggio C, Higgins M, Milnes D, et al.
Differentiation
. 2022 Oct;
128:1-12.
PMID: 36194927
Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular, craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability and progressive fibrosis. It is caused by germline...
2.
Yang A, Alankarage D, Cuny H, Ip E, Almog M, Lu J, et al.
Circ Genom Precis Med
. 2022 May;
15(3):e003539.
PMID: 35522174
No abstract available.
3.
Morrish A, Smith J, Enriquez A, Sholler G, Mervis J, Dunwoodie S, et al.
Trends Cardiovasc Med
. 2021 May;
32(5):311-319.
PMID: 33964404
Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when...
4.
Martin E, Enriquez A, Sparrow D, Humphreys D, McInerney-Leo A, Leo P, et al.
Hum Mol Genet
. 2020 Dec;
29(22):3662-3678.
PMID: 33276377
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11...
5.
Ma A, Yousoof S, Grigg J, Flaherty M, Minoche A, Cowley M, et al.
Genet Med
. 2020 Jun;
22(10):1623-1632.
PMID: 32499604
Purpose: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using...
6.
Chapman G, Moreau J, I P E, Szot J, Iyer K, Shi H, et al.
Hum Mol Genet
. 2019 Dec;
29(4):566-579.
PMID: 31813956
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate...
7.
Alankarage D, Ip E, Szot J, Munro J, Blue G, Harrison K, et al.
Genet Med
. 2018 Oct;
21(5):1111-1120.
PMID: 30293987
Purpose: Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic diagnosis is not made in most cases. The purpose of this study was to assess...
8.
Biggin A, Enriquez A, Wong M, Bennetts B, Lau C, Chan C, et al.
J Clin Immunol
. 2018 Mar;
38(3):234-236.
PMID: 29524015
No abstract available.
9.
Shi H, Enriquez A, Rapadas M, Martin E, Wang R, Moreau J, et al.
N Engl J Med
. 2017 Aug;
377(6):544-552.
PMID: 28792876
Background: Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic...
10.
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, et al.
Am J Med Genet A
. 2017 Apr;
173(7):1866-1877.
PMID: 28449295
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here...