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Publications

This page highlights peer-reviewed articles, preprints, and collaborative works authored by our team.

2025

Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis (preprint)

Taylor Petrucci-Nelson, Sacha Guilhaumou, Takiy E Berrandou, Cortney Gensemer, Adrien Georges, Matthew Huff, Margaux-Alison Fustier, Asraa Esmael, Josephine Henry, Olivia Jaye, Ranan Phookan, Sarah Dooley, Kathryn Byerly, Brian Loizzi, Roman Fenner, Emma Mach, Amy Weintraub, Victoria Daylor, Julianna Weninger, Natalie Koren, Erika Bistran, Charlotte Griggs, Molly Griggs, Sydney Severance, Rebecca Byrd, Sunil Patel, Steven A Kautz, Anne Maitland, Nabila Bouatia-Naji, Russell A Norris

Proteomic Discoveries in hypermobile Ehlers-Danlos syndrome reveals insights into disease pathophysiology

Molly Griggs, Victoria Daylor, Taylor Petrucci, Amy Weintraub, Matthew Huff, Sofia Willey, Kathryn Byerly, Brian Loizzi, Jordan Morningstar, Lauren Elizabeth Ball, Jennifer R Bethard, Richard Drake, Amol Sharma, Josef K Eichinger, Michelle Nichols, Steven Kautz, Steven Shapiro, Anne Maitland, Sunil Patel, Russell A Norris, Cortney Gensemer

KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome

Gensemer C, Petrucci T, Beck T, Daylor V, Griggs M, Griggs C, Weintraub A, Byerly K, Guo L, Morningstar J, Kornblau I, Biggs R, Moore K, Koren N, Hastings C, Oberlies E, Zientara E, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger J, Bistran E, Beeson G, Kerns J, Osterhaus M, Fleck E, Schnaudingel J, Butler S, Severance S, Kendall W, Delaney J, Judge D, Chen P, Yao H, Guz J, Awgulewitsch A, Kautz S, Mukherjee R, Price R, Henderson F, Shapiro S, Francomano C, Kovacic J, Lavallee M, Kontorovich A, Berrandou T, Slaugenhaupt S, Milan D, Maitland A, Patel S, Bouatia-Naji N, Norris R.A.

Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs.

Daylor V, Griggs M, Weintraub A, Byrd R, Petrucci T, Huff M, Byerly K, Fenner R, Severance S, Griggs C, Sharma A, Atwal P, Kautz SA, Shapiro S, Youkhana K, Lavallee M, Wilkerson A, Nichols M, Snyder A, Eichinger JK, Patel S, Maitland A, Gensemer C, Norris RA.

Orthopaedic Manifestations in Hypermobile Ehlers-Danlos Syndrome.

Eichinger JK, Byrd RL, Bailey EP, Reis RJ, Daylor V, Schiessl M, Gensemer C, Friedman RJ, Patel SJ, Norris RA.

Sox9 in the epicardium: Implications for cell invasion, differentiation, and coronary vascular development.

Harvey AB, Trouten AM, Wolters RA, Drummond JR, Deepe RN, Tarolli HG, Devji I, Vaena SG, Romeo MJ, Muise-Helmericks R, Ramos PS, Norris RA, Tao G, Wessels A.

Dynamic Expression and Functional Implications of the Cell Polarity Gene, Dchs1, During Cardiac Development.

Byerly K, Wolfe C, Parris H, Griggs C, Wilson E, Huff M, Griggs M, Morningstar J, Guo L, Tang F, Guz J, Petrucci T, Phookan R, Loizzi B, Gensemer C, Norris RA.

Hypoimmunogenic hPSC-derived cardiac organoids for immune evasion and heart repair.

Silver SE, Howells AR, Arhontoulis DC, Randolph LN, Hyams NA, Barrs RW, Li M, Kerr CM, Robino RA, Morningstar JE, Bain JD, Floy ME, Norris RA, Bao X, Ruddy JM, Palecek SP, Ferreira LMR, Lian XL, Mei Y

Akt3 links mitochondrial function to the regulation of Aurora B and mitotic fidelity.

Hough ZJ, Nasehi F, Corum DG, Norris RA, Foley AC, Muise-Helmericks RC.

2024

Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.

Rimbert A, Duval D, Trujillano D, Kyndt F, Jobbe-Duval A, Lindenbaum P, Tucker N, Lecointe S, Labbé P, Toquet C, Karakachoff M, Roussel JC, Baufreton C, Bruneval P, Cueff C, Donal E, Redon R, Olaso R, Boland A, Deleuze JF; FranceGenRef Consortium; Estivill X, Slaugenhaupt S, Markwald RR, Norris RA, Verhoye JP, Probst V, Hagège A, Levine R, Jeunemaitre X, Marec HL, Capoulade R, Bouatia-Naji N, Dina C, Milan D, Ossowski S, Schott JJ, Mérot J, Scouarnec SL, Tourneau TL.

Hypermobile Ehlers-Danlos syndrome and spontaneous CSF leaks: the connective tissue conundrum.

Severance S, Daylor V, Petrucci T, Gensemer C, Patel S, Norris RA.

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.

Gensemer C, Beck T, Guo L, Petrucci T, Morningstar J, Kornblau I, Byerly K, Biggs R, Weintraub A, Moore K, Koren N, Daylor V, Hastings C, Oberlies E, Zientara ER, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger J, Bistran E, Beeson G, Kerns J, Griggs M, Griggs C, Osterhaus M, Fleck E, Schnaudigel J, Butler S, Severance S, Kendall W, Delaney JR, Judge DP, Chen P, Yao H, Guz J, Awgulewitsch A, Kautz SA, Mukherjee R, Price R, Henderson F Sr, Shapiro S, Francomano CA, Kovacic JC, Lavallee M, Patel S, Berrandou TE, Slaugenhaupt SA, Milan D, Kontorovich AR, Bouatia-Naji N, Norris RA.

Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome.

Petrucci T, Barclay SJ, Gensemer C, Morningstar J, Daylor V, Byerly K, Bistran E, Griggs M, Elliot JM, Kelechi T, Phillips S, Nichols M, Shapiro S, Patel S, Bouatia-Naji N, Norris RA.

Degradation of the α-Carboxyl Terminus 11 Peptide: In Vivo and Ex Vivo Impacts of Time, Temperature, Inhibitors, and Gender in Rat.

Tasdemiroglu Y, Council-Troche M, Chen M, Ledford B, Norris RA, Poelzing S, Gourdie RG, He JQ.

Left ventricular fibrosis and CMR tissue characterization of papillary muscles in mitral valve prolapse patients.

Spampinato RA, Marin-Cuartas M, van Kampen A, Fahr F, Sieg F, Strotdrees E, Jahnke C, Klaeske K, Wiesner K, Morningstar JE, Nagata Y, Izquierdo-Garcia D, Dieterlen MT, Norris RA, Levine RA, Paetsch I, Borger MA.

Epicardial deletion of Sox9 leads to myxomatous valve degeneration and identifies Cd109 as a novel gene associated with valve development.

Harvey AB, Wolters RA, Deepe RN, Tarolli HG, Drummond JR, Trouten A, Zandi A, Barth JL, Mukherjee R, Romeo MJ, Vaena SG, Tao G, Muise-Helmericks R, Ramos PS, Norris RA, Wessels A.

2023

Degenerative mitral regurgitation.

Delgado V, Ajmone Marsan N, Bonow RO, Hahn RT, Norris RA, Zühlke L, Borger MA.

Left Ventricular Fibrosis and CMR Tissue Characterization of Papillary Muscles in Mitral Valve Prolapse Patients.

Spampinato RA, Marin-Cuartas M, Kampen A, Fahr F, Sieg F, Strotdrees E, Jahnke C, Klaeske K, Wiesner K, Morningstar JE, Nagata Y, Izquierdo-Garcia D, Dieterlen MT, Norris RA, Levine RA, Paetsch I, Borger MA.

Utilization of Engineering Advances for Detailed Biomechanical Characterization of the Mitral-Ventricular Relationship to Optimize Repair Strategies: A Comprehensive Review.

van Kampen A, Morningstar JE, Goudot G, Ingels N, Wenk JF, Nagata Y, Yaghoubian KM, Norris RA, Borger MA, Melnitchouk S, Levine RA, Jensen MO.

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The Medical University of South Carolina

Dept. of Regenerative Medicine & Cell Biology

Charleston, SC
thenorrislab@musc.edu

© 2025 by The Norris Lab

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