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Stephanie Wallace
University of Texas Health Science Center at San Antonio
7Publications
3H-index
42Citations
Publications 7
Newest
Published on Sep 2, 2019in Genetics in Medicine8.68
Amélie Pinard2
Estimated H-index: 2
(University of Texas Health Science Center at Houston),
Stéphanie Guey1
Estimated H-index: 1
(Paris Diderot University)
+ 15 AuthorsFrançoise Bergametti1
Estimated H-index: 1
(Paris Diderot University)
Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. Exome sequencing from 39 trios were analyzed. We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of additional rare variants in these genes in 158 unr...
Published on Apr 1, 2019in Journal of Medical Genetics5.90
Ellen M. Hostetler6
Estimated H-index: 6
(University of Texas Health Science Center at San Antonio),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at San Antonio)
+ 14 AuthorsStephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at San Antonio)
Background Pathogenic variants in SMAD3 cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with SMAD3 variants. Methods Aortic status and events, vital status and clinical features were abstracted through retrospective review of medical records of 212 ...
Published on Jan 1, 2019in Genetics in Medicine8.68
Stephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at Houston),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 17 AuthorsCatherine Boileau55
Estimated H-index: 55
(Paris Diderot University)
Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited. Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed. Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm rep...
Published on Apr 1, 2018in American Journal of Human Genetics9.92
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 14 AuthorsStephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at Houston)
The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such families, and compound rare heterozygous variants (p.Pro45Argfs ∗ 25 and p.Glu750 ∗...
Published on Nov 1, 2016
Linda M. Polfus9
Estimated H-index: 9
(University of Texas Health Science Center at Houston),
Eric Boerwinkle139
Estimated H-index: 139
(University of Texas Health Science Center at Houston)
+ 11 AuthorsDianna M. Milewicz56
Estimated H-index: 56
(University of Texas Health Science Center at Houston)
To comprehensively evaluate a European–American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldoster...
Published on Oct 1, 2016in Clinical Genetics4.10
Stephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at Houston),
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston)
+ 13 AuthorsEmil Martin25
Estimated H-index: 25
(University of Texas Health Science Center at Houston)
Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory moyamoya collateral vessels. Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. Probands (n = 96) from unrelated families underwent sequencing of GUCY1A3. Functional studies were performed to confirm the pathogenicity of identified GUCY1A3 variants. Two affected individuals fro...
Published on Apr 1, 2016in Journal of Cardiovascular Surgery1.06
Dianna M. Milewicz56
Estimated H-index: 56
,
Ellen M. Hostetler6
Estimated H-index: 6
(University of Texas Health Science Center at Houston)
+ 5 AuthorsEllen S. Regalado24
Estimated H-index: 24
Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these...
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