Mark E Lindsay
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Explore the profile of Mark E Lindsay including associated specialties, affiliations and a list of published articles.
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79
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2880
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Recent Articles
1.
Arduini A, Fleming S, Xiao L, Hall A, Akkad A, Chaffin M, et al.
Cell Rep
. 2024 Dec;
44(1):115091.
PMID: 39709602
We sought to characterize cellular composition across the cardiovascular system of the healthy Wistar rat, an important model in preclinical cardiovascular research. We performed single-nucleus RNA sequencing (snRNA-seq) in 78...
2.
Crousillat D, Sarma A, Wood M, Naderi S, Leon K, Gibson C, et al.
JACC Adv
. 2024 Dec;
3(12):101385.
PMID: 39635541
Despite marked advancements in the recognition and diagnosis of spontaneous coronary artery dissection (SCAD) over the past decade, knowledge of the basic pathophysiologic mechanisms of disease, contributing factors, and treatment...
3.
Alves C, Das S, Krishnan V, Ha L, Fox L, Stutzman H, et al.
bioRxiv
. 2024 Nov;
PMID: 39605323
Genetic vascular disorders are prevalent diseases that have diverse etiologies and few treatment options. Pathogenic missense mutations in the alpha actin isotype 2 gene () primarily affect smooth muscle cell...
4.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, et al.
Eur J Hum Genet
. 2024 Sep;
PMID: 39256535
No abstract available.
5.
Lindsay M, Scimone E, Lawton J, Richa R, Yonker L, Di Y, et al.
J Allergy Clin Immunol
. 2024 Sep;
155(1):107-119.e2.
PMID: 39243984
Background: Myhre syndrome is an exceedingly rare yet increasingly diagnosed genetic disorder arising from germline variants in the SMAD4 gene. Its core manifestation is the progression of stiffness and fibrosis...
6.
Pirruccello J, Khurshid S, Lin H, Weng L, Zamirpour S, Kany S, et al.
Eur Heart J
. 2024 Aug;
45(40):4318-4332.
PMID: 39132911
Background And Aims: This study assessed whether a model incorporating clinical features and a polygenic score for ascending aortic diameter would improve diameter estimation and prediction of adverse thoracic aortic...
7.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, et al.
Eur J Hum Genet
. 2024 Jul;
32(9):1086-1094.
PMID: 38997468
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly documented in childhood and comprise variable...
8.
Chen M, Deng E, Yamada J, Choudhury S, Scotellaro J, Kelley L, et al.
J Am Heart Assoc
. 2024 Jul;
13(14):e033232.
PMID: 38958128
Background: Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with nonsyndromic TAA are...
9.
Lin A, Scimone E, Thom R, Balaguru D, Kinane T, Moschovis P, et al.
Am J Med Genet A
. 2024 May;
194(10):e63638.
PMID: 38779990
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre...
10.
Raghavan A, Pirruccello J, Ellinor P, Lindsay M
Arterioscler Thromb Vasc Biol
. 2023 Dec;
44(2):334-351.
PMID: 38095107
Aortic disease, including dissection, aneurysm, and rupture, carries significant morbidity and mortality and is a notable cause of sudden cardiac death. Much of our knowledge regarding the genetic basis of...