Daniel Quiat
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Explore the profile of Daniel Quiat including associated specialties, affiliations and a list of published articles.
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17
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896
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Recent Articles
1.
Li K, Quiat D, She F, Liu Y, He R, Haghighi A, et al.
Genet Med Open
. 2024 Dec;
2:101817.
PMID: 39669606
Facioscapulohumeral dystrophy type 1 (FSHD1) is a progressive, debilitating skeletal myopathy that requires a multimodal approach for complete molecular characterization of pathogenic genotypes. Here, we report genomic analyses of a...
2.
McKean D, Zhang Q, Narayan P, Morton S, Strohmenger V, Tang V, et al.
J Clin Invest
. 2024 Jun;
134(11.
PMID: 38828726
Trisomy 21 (T21), a recurrent aneuploidy occurring in 1:800 births, predisposes to congenital heart disease (CHD) and multiple extracardiac phenotypes. Despite a definitive genetic etiology, the mechanisms by which T21...
3.
Kim Y, Gunnarsdottir O, Viveiros A, Reichart D, Quiat D, Willcox J, et al.
Circ Genom Precis Med
. 2023 Sep;
16(5):452-461.
PMID: 37767697
Background: Many cardiovascular disorders propel the development of advanced heart failure that necessitates cardiac transplantation. When treatable causes are excluded, studies to define causes are often abandoned, resulting in a...
4.
Quiat D, Timberlake A, Curran J, Cunningham M, McDonough B, Artunduaga M, et al.
Genet Med
. 2022 Oct;
25(1):143-150.
PMID: 36260083
Purpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or...
5.
Quiat D, Kim S, Zhang Q, Morton S, Pereira A, DePalma S, et al.
Proc Natl Acad Sci U S A
. 2022 May;
119(21):e2203928119.
PMID: 35584116
Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains...
6.
Hylind R, Pereira A, Quiat D, Chandler S, Roston T, Pu W, et al.
Circ Genom Precis Med
. 2022 May;
15(3):e003507.
PMID: 35536239
Background: Truncating variants in the desmosomal gene tv) cause arrhythmogenic right ventricular cardiomyopathy (ARVC) yet display varied penetrance and expressivity. Methods: We identified individuals with tv from the UK Biobank...
7.
Willcox J, Geiger J, Morton S, McKean D, Quiat D, Gorham J, et al.
Am J Hum Genet
. 2022 Apr;
109(5):961-966.
PMID: 35397206
The well-established manifestation of mitochondrial mutations in functional cardiac disease (e.g., mitochondrial cardiomyopathy) prompted the hypothesis that mitochondrial DNA (mtDNA) sequence and/or copy number (mtDNAcn) variation contribute to cardiac defects...
8.
Morton S, Pereira A, Quiat D, Richter F, Kitaygorodsky A, Hagen J, et al.
Circ Genom Precis Med
. 2022 Feb;
15(2):e003500.
PMID: 35130025
Background: Congenital heart disease (CHD) is the most common anomaly at birth, with a prevalence of ≈1%. While infants born to mothers with diabetes or obesity have a 2- to...
9.
Morton S, Quiat D, Seidman J, Seidman C
Nat Rev Cardiol
. 2021 Jul;
19(1):26-42.
PMID: 34272501
The application of next-generation sequencing to study congenital heart disease (CHD) is increasingly providing new insights into the causes and mechanisms of this prevalent birth anomaly. Whole-exome sequencing analysis identifies...
10.
Repetti G, Kim Y, Pereira A, Ingles J, Russell M, Lakdawala N, et al.
Proc Natl Acad Sci U S A
. 2021 Mar;
118(10).
PMID: 33658374
Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic...