Publications by authors named "Rocio Moran"

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Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Jun Liao, Keith A Coffman, Joseph Locker, Quasar S Padiath, Bruce Nmezi, Rocio Moran

Mol Genet Genomic Med· April 2021

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Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors.
Matthew S Elitt, Joan E Tamburro, Rocio T Moran, Elias Traboulsi

Ophthalmic Genet· April 2020

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Genetics of syndromic and nonsyndromic aortopathies.
Christina M Rigelsky, Rocio T Moran

Curr Opin Pediatr· December 2019

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Michael D Fountain, David S Oleson, Megan E Rech, Lara Segebrecht, Jill V Hunter, Rocio Moran

Genet Med· August 2019

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Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.
J Kevin Hicks, Amy Shealy, Allison Schreiber, Marissa Coleridge, Ryan Noss, Rocio Moran

Clin Transl Sci· January 2018

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Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.
Brandie Heald, Christina Rigelsky, Rocio Moran, Lisa LaGuardia, Margaret O'Malley

Am J Med Genet A· March 2016

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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Dong-chuan Guo, Ellen S Regalado, Limin Gong, Xueyan Duan, Regie Lyn P Santos-Cortez, Rocio Moran

Circ Res· March 2016

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Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases?
Min Shen, Rocio Moran, Kenneth J Tomecki, Qingping Yao

Semin Arthritis Rheum· December 2015

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Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies.
Loon Yee Louis Teo, Rocio T Moran, W H Wilson Tang

Curr Heart Fail Rep· December 2015

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NOD2-associated autoinflammatory disease: a large cohort study.
Qingping Yao, Min Shen, Christine McDonald, Felicitas Lacbawan, Rocio Moran

Rheumatology (Oxford)· October 2015

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Systemic connective tissue features in women with fibromuscular dysplasia.
Sarah O'Connor, Esther Sh Kim, Ellen Brinza, Rocio Moran, Natalia Fendrikova-Mahlay

Vasc Med· October 2015

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Yi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Rocio Moran

Mol Cell· September 2015

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Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
Brandie Heald, Christina Rigelsky, Rocio Moran, Lisa LaGuardia, Margaret O'Malley

Am J Med Genet A· August 2015

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Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Ellen S Regalado, Dong-chuan Guo, Siddharth Prakash, Tracy A Bensend, Kelly Flynn, Rocio Moran

Circ Cardiovasc Genet· June 2015

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De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F Hamdan, So-Hee Lim, Rocio Moran

Hum Mutat· January 2015

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MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Dong-chuan Guo, Limin Gong, Ellen S Regalado, Regie L Santos-Cortez, Ren Zhao, Rocio Moran

Am J Hum Genet· January 2015

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Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.
Reed Pyeritz, Guillaume Jondeau, Rocio Moran, Julie De Backer, Eloisa Arbustini

Genet Med· August 2014

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Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives.
Chase R Brown, Roy K Greenberg, Shen Wong, Matthew Eagleton, Tara Mastracci, Rocio Moran

J Vasc Surg· September 2013

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Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
Ahsan N V Moosa, Elias I Traboulsi, Janet Reid, Lourdes Prieto, Rocio Moran

J Child Neurol· April 2013

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Treatment of a patient with vertebral and subclavian aneurysms in the setting of a TGFBR2 mutation.
Joshua Sylvan, Roy K Greenberg, Tara M Mastracci, Matthew J Eagleton, Rocio Moran

J Vasc Surg· April 2013

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Midterm results of David reimplantation in patients with connective tissue disorder.
Lars G Svensson, Eugene H Blackstone, Mazin Alsalihi, Lillian H Batizy, Eric E Roselli, Rocio T Moran

Ann Thorac Surg· February 2013

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Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.
Stacey L Poloskey, Esther Sh Kim, Ruchi Sanghani, Adeeb H Al-Quthami, Patricia Arscott, Rocio Moran

Vasc Med· December 2012

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Genetic counselors: your partners in clinical practice.
Jessica L Mester, Allison H Schreiber, Rocio T Moran

Cleve Clin J Med· August 2012

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Allen N Lamb, Jill A Rosenfeld, Nicholas J Neill, Michael E Talkowski, Ian Blumenthal, Rocio Moran

Hum Mutat· April 2012

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Building an innovative model for personalized healthcare.
Kathryn Teng, Charis Eng, Caryl A Hess, Meredith A Holt, Rocio T Moran

Cleve Clin J Med· April 2012

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