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Author Details

Harry C Dietz
The Johns Hopkins University
1991
291
96
PMIDPaper TitleJournal TitlePublished Year
37294802Opioid Utilization After Scoliosis Surgery is Greater in Marfan Syndrome Than Adolescent Idiopathic Scoliosis.Spine (Phila Pa 1976)2024
34629178Midterm outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study.J Thorac Cardiovasc Surg2023
37405741Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.JAMA Cardiol2023
36445364The spectrum of foot deformities in Loeys-Dietz syndrome.J Pediatr Orthop B2023
36608150Epithelial-intrinsic defects in TGFβR signaling drive local allergic inflammation manifesting as eosinophilic esophagitis.Sci Immunol2023
36760094Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L.Am J Med Genet A2023
35058154Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.Genet Med2022
35442932Tendon Healing in a Mouse Model of Loeys-Dietz Syndrome: Controlled Study Using a Patellar Tendon Transection Model.J Pediatr Orthop2022
35613085Talipes Equinovarus in Loeys-Dietz Syndrome.J Pediatr Orthop2022
35811726Distinct Contribution of Global and Regional Angiotensin II Type 1a Receptor Inactivation to Amelioration of Aortopathy in <i>Tgfbr1</i> <sup><b>M318R</b>/+</sup> Mice.Front Cardiovasc Med2022
35618343Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.J Am Coll Cardiol2022
35152942Assessment of pleural pressure during sleep in Marfan syndrome.J Clin Sleep Med2022
35093466Regional Vascular Changes and Aortic Dilatation in Pediatric Patients With Bicuspid Aortic Valve.Can J Cardiol2022
34906513Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.Genet Med2022
34906463Accurate assignment of disease liability to genetic variants using only population data.Genet Med2022
34478655Response to Biesecker et al.Am J Hum Genet2021
34428348Toward precision medicine in vascular connective tissue disorders.Am J Med Genet A2021
34782328Association of sleep apnoea risk and aortic enlargement in Marfan syndrome.BMJ Open Respir Res2021
34807423Loeys-Dietz Syndrome.Adv Exp Med Biol2021
31627951Management of the aortic arch in patients with Loeys-Dietz syndrome.J Thorac Cardiovasc Surg2020
31639107Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.J Clin Invest2020
33059494A seX(X/Y) Article on Marfan Syndrome.J Am Heart Assoc2020
32586526Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.J Pediatr2020
32499652A positively selected FBN1 missense variant reduces height in Peruvian individuals.Nature2020
32178537Predictors of Bicuspid Aortic Valve-Associated Aortopathy in Childhood: A Report From the MIBAVA Consortium.Circ Cardiovasc Imaging2020
32164578Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome.BMC Gastroenterol2020
30455415ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.Nat Genet2019
30201961Correction: Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2019
31217334Epigenetic activation and memory at a TGFB2 enhancer in systemic sclerosis.Sci Transl Med2019
31182572Regenerative and durable small-diameter graft as an arterial conduit.Proc Natl Acad Sci U S A2019
31316008Calpain 9 as a therapeutic target in TGFβ-induced mesenchymal transition and fibrosis.Sci Transl Med2019
31043570Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome.Sci Transl Med2019
30982542Valve-sparing aortic root replacement in children: Outcomes from 100 consecutive cases.J Thorac Cardiovasc Surg2019
30796334Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.Eur J Hum Genet2019
30850660Targeting of dermal myofibroblasts through death receptor 5 arrests fibrosis in mouse models of scleroderma.Nat Commun2019
30820038Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.Eur J Hum Genet2019
29323665Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2018
30219046First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.BMC Med Genet2018
29889773Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.J Pediatr Orthop2018
30071989Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.J Am Coll Cardiol2018
29931197Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation.Cardiovasc Res2018
29901510Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome.J Comput Assist Tomogr2018
30004239Proteomics reveals Rictor as a noncanonical TGF-β signaling target during aneurysm progression in Marfan mice.Am J Physiol Heart Circ Physiol2018
30473905Pregnancy after Aortic Root Replacement in Marfan's Syndrome: A Case Series and Review of the Literature.AJP Rep2018
30406707FEVR findings in patients with Loeys-Dietz syndrome type II.Ophthalmic Genet2018
27379784Management of Scoliosis in Patients With Loeys-Dietz Syndrome.J Pediatr Orthop2017
28366467Aortic Root Replacement for Children With Loeys-Dietz Syndrome.Ann Thorac Surg2017
282576832016 Presidential Address: Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.Am J Hum Genet2017
28104197Simplified mitral valve repair in pediatric patients with connective tissue disorders.J Thorac Cardiovasc Surg2017
28246187TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Cold Spring Harb Perspect Biol2017
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Collaborators

Clair A Francomano
Indiana University School of Medicine
Co-authored papers 12
Nishant D Patel
University of Virginia
Co-authored papers 12
Jennifer E Van Eyk
Smidt Heart Institute, Cedars-Sinai Medical Center
Co-authored papers 9
Ronald V Lacro
Boston Children's Hospital
Co-authored papers 8
Seema Mital
Hospital for Sick Children
Co-authored papers 8
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 7
Xavier Jeunemaitre
Co-authored papers 7
Garry R Cutting
Johns Hopkins University School of Medicine
Co-authored papers 7
Joseph E Bavaria
University of Pennsylvania
Co-authored papers 6
Marc K Halushka
Co-authored papers 6
Andrew S McCallion
Johns Hopkins University School of Medicine
Co-authored papers 5
Christoph Preuss
Universite de Montreal
Co-authored papers 5
Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Co-authored papers 5
Dan E Arking
Co-authored papers 5
Lynn Mahony
University of Texas Southwestern Medical Center
Co-authored papers 5
Shaine A Morris
Baylor College of Medicine
Co-authored papers 4
Thoralf M Sundt
Massachusetts General Hospital
Co-authored papers 4
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
Angela M Christiano
Co-authored papers 3
Stephen M Paridon
The Children's Hospital of Philadelphia, Perelman School of Medicine
Co-authored papers 3
Angela M Sharkey
Wake Forest University School of Medicine
Co-authored papers 3
Alan F Scott
Johns Hopkins University School of Medicine
Co-authored papers 3
Nara Sobreira
Johns Hopkins University
Co-authored papers 3
David Valle
Johns Hopkins School of Medicine
Co-authored papers 3
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 3
George J Arnaoutakis
University of Florida
Co-authored papers 3
Steven D Colan
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Nicholas Katsanis
Northwestern University
Co-authored papers 2
Francisco Martinez Murillo
Co-authored papers 2
Alan R Schwartz
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 2
Release 1.2