RocioTMoranMD

PubMed

• 1 citations
  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, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan-Khetarpal, Marianne McGuire, Alli...> ;Molecular Genetics & Genomic Medicine. 2021 Mar 5
• 4 citations
  Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors
  Matthew S. Elitt, Joan Tamburro, Rocio Moran, Elias I. Traboulsi> ;Ophthalmic Genetics. 2020 Mar 31
• 5 citations
  Genetics of syndromic and nonsyndromic aortopathies.
  Christina Rigelsky, Rocio Moran> ;Current Opinion in Pediatrics. 2019 Dec 1
• 36 citations
  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, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfel...> ;Genetics in Medicine. 2019 Aug 1
• 10 citations
  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, Marvin R. Natowicz, Rocio Moran, Timothy J. Moss, Angelika Erwin, Charis Eng> ;Clinical and Translational Science. 2018 Jan 1
• 42 citations
  Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study
  Daniel D. Kinnamon, Ana Morales, Deborah J. Bowen, Wylie Burke, Ray E. Hershberger, Julie M. Gastier-Foster, Deborah A. Nickerson, Michael O. Dorschner, Garrie J. Haas...> ;Circulation. Cardiovascular Genetics. 2017 Dec 1
• 143 citations
  LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections
  Dongchuan Guo, Ellen S. Regalado, Limin Gong, Xue-Yan Duan, Regie Lyn P. Santos-Cortez, Pauline Arnaud, Zhao Ren, Bo Cai, Ellen M. Hostetler, Rocio Moran, David Liang,...> ;Circulation Research. 2016 Mar 1
• 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, Carol A. Burke, Kenneth G. Zahka> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 10 citations
  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> ;Seminars in Arthritis and Rheumatism. 2015 Dec 1
• 7 citations
  Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies
  Loon Yee Louis Teo, Rocio Moran, W.H. Wilson Tang> ;Current Heart Failure Reports. 2015 Oct 15
• 39 citations
  NOD2-associated autoinflammatory disease: a large cohort study
  Qingping Yao, Min Shen, Christine McDonald, Felicitas Lacbawan, Rocio Moran, Bo Shen> ;Rheumatology. 2015 Oct 1
• 137 citations
  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, Sung Hae L. Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian ...> ;Molecular Cell. 2015 Sep 17
• 60 citations
  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, Carol A. Burke, Kenneth G. Zahka> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
• 12 citations
  Systemic connective tissue features in women with fibromuscular dysplasia
  Sarah C. O'Connor, Esther S.H. Kim, Rocio Moran, Natalia Fendrikova-Mahlay, Kathy Wolski, Heather L. Gornik, Ellen Brinza> ;Vascular Medicine. 2015 Jul 8
• 89 citations
  Aortic Disease Presentation and Outcome Associated with ACTA2 mutations
  Ellen S. Regalado, Dongchuan Guo, Siddharth K. Prakash, Tracy A. Bensend, Kelly Flynn, Anthony L. Estrera, Hazim J. Safi, David Liang, James C. Hyland, A H Child, Gavi...> ;Circulation. Cardiovascular Genetics. 2015 Mar 10
• 68 citations
  MAT2A mutations predispose individuals to thoracic aortic aneurysms.
  Dongchuan Guo, Limin Gong, Ellen S. Regalado, Regie Lyn P. Santos-Cortez, Ren Zhao, Bo Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg...> ;American Journal of Human Genetics. 2015 Jan 8
• 100 citations
  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, Catherine Brunel-Guitton, Jean Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber,...> ;Human Mutation. 2015 Jan 1
• 17 citations
  Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling
  Reed E. Pyeritz, Guillaume Jondeau, Rocio Moran, Julie De Backer, Eloisa Arbustini, Anne De Paepe, Dianna M. Milewicz> ;Genetics in Medicine. 2014 Aug 1
• 26 citations
  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 J. Eagleton, Tara M. Mastracci, Adrian V. Hernandez, Christina Rigelsky, Rocio Moran> ;Journal of Vascular Surgery. 2013 Sep 1
• 22 citations
  Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
  Ahsan N.V. Moosa, Elias I. Traboulsi, Janet R. Reid, Lourdes R. Prieto, Rocio Moran, Neil R. Friedman> ;Journal of Child Neurology. 2013 Apr 1
• 4 citations
  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> ;Journal of Vascular Surgery. 2013 Apr 1
• 33 citations
  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, Rebecca L. McCullough, Alessandro Vivacqua, Rocio Moran, A. Marc Gillinov, ...> ;The Annals of Thoracic Surgery. 2013 Feb 1
• 48 citations
  Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia
  Stacey L. Poloskey, Esther S.H. Kim, Ruchi Sanghani, Adeeb Al-Quthami, Patricia Arscott, Rocio Moran, Christina Rigelsky, Heather L. Gornik> ;Vascular Medicine. 2012 Oct 11
• 6 citations
  Genetic counselors: Your partners in clinical practice
  Jessica Mester, Allison Schreiber, Rocio Moran> ;Cleveland Clinic Journal of Medicine. 2012 Aug 1
• 12 citations
  Building an innovative model for personalized healthcare.
  Kathryn Teng, Charis Eng, Caryl A. Hess, Meredith A. Holt, Rocio Moran, Richard R. Sharp, Elias I. Traboulsi> ;Cleveland Clinic Journal of Medicine. 2012 Apr 1
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