The DOI matches its Crossref record; 15 of the 16 references it cites were found in a registry or an index.
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
Open accessAbstract
Purpose We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations.Methods We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 individuals (630 index cases and 601 relatives).Results Missense and splice-site mutations accounted for more than 90% of the 572 alterations that we had identified in COL3A1. Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation.Conclusion Although vascular Ehlers-Danlos syndrome appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. These findings indicate that when counseling families, confirmation of the presence of a COL3A1 mutation and its nature can help evaluate the risks of complications. These data are also important ingredients in both the selection and allocation of individuals to appropriate arms in clinical trials to assess the effects of interventions.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain”
In the citing paper
“through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures.”
In the citing paper
“This type of mutations produces a dominant negative effect on the protein, thereby inhibiting extracellular accumulation of mature COLLIII.”
In the citing paper
“Substitutions of bulky residues (Arg, Asp, Glu, Val) for glycine residues in the triple helical domain are usually less severe than splice site mutations, but more consequential than substitutions by smaller residues (Ala, Ser, Cys).”
In the citing paper
“the nature of the specific COL3A1 mutation influences life expectancy.”
In the citing paper
“Splice site mutations that lead to exon skipping have the lowest median survival.”
In the citing paper
“Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications [4, 9–12].”
In the citing paper
“COL3A1 missense mutations altering the glycine codons together with in-frame splice mutations in the triple helical domain account for the majority of disease-causing variants and lead to misfolding of COLLIII in the endoplasmic reticulum (ER) and retention of seven eighths of misfolded procollagen trimers in the cell with consequent enlargement of ER vesicles [8–10].”
In the citing paper
“Besides, the present patients exhibited a full-blown expression of the disease with several major arterial events, in line with the limited genotype-phenotype correlation that associates this type of structural mutations with a more severe clinical phenotype [4,9–12].”
Citations
Cites
Regression Models and Life-Tables
Cox, D. R. (1972) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1972.tb00899.x · Cited by 39,793
Regression Models and Life-Tables
Cox, D. R. (1992) · Springer Series in Statistics · doi:10.1007/978-1-4612-4380-9_37 · Cited by 26,297
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344
Self-citationMarini, J. C., Forlino, A., Cabral, W. A., Barnes, A. M., Antonio, J. D. S., Milgrom, S. A., Hyland, J. C., Körkkö, J., Prockop, D. J., Paepe, A. D., et al. (2006) · Human Mutation · doi:10.1002/humu.20429 · Cited by 773
Self-citationConnective tissue and its heritable disorders : molecular, genetic, and medical aspects
Royce, P. M., & Steinmann, B. U. (1993) · Cited by 440
LANNE, R. D. (1952) · Acta Clinica Belgica · doi:10.1080/17843286.1952.11717220 · Cited by 212
Superti‐Furga, A., Gugler, E., GITZELMANN, R., & Steinmann, B. U. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)68776-9 · Cited by 198
Connective tissue and its heritable disorders. Molecular, genetic and medical aspects
Olavesen, A. H. (1993) · FEBS Letters · doi:10.1016/0014-5793(93)80460-c · Cited by 198
Cerebrovascular complications in Ehlers‐Danlos syndrome type IV
North, K. N., Whiteman, D. A. H., Pepin, M. G., & Byers, P. H. (1995) · Annals of Neurology · doi:10.1002/ana.410380620 · Cited by 186
Self-citationPregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome
Murray, M. L., Pepin, M. G., Peterson, S., & Byers, P. H. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.53 · Cited by 183
Self-citation
Flagged first, then by citations
1 of the 16 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 201–300 of 313
Buso, G., Paini, A., Rosei, C. A., Bertacchini, F., Stassaldi, D., Capellini, S., Aggiusti, C., Salvetti, M., Ciuceis, C. D., Ritelli, M., et al. (2024) · High Blood Pressure & Cardiovascular Prevention · doi:10.1007/s40292-024-00692-8 · Cited by 1
Buso, G., Gatta, R., Corvini, F., Laera, N., Rosei, C. A., Paini, A., Bulgari, G., Petroboni, B., Bertacchini, F., Aggiusti, C., et al. (2025) · Hypertension Research · doi:10.1038/s41440-025-02135-w · Cited by 1
Micale, L., Muro, E. D., Cegli, R. D., Tumaini, B., Capuozzo, A., Bernardi, P., Morlino, S., Fusco, C., Nardella, G., Mormone, E., et al. (2025) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2025.167896 · Cited by 2
Sekkelsten, A. I. S., Skattør, T. H., Holmström, H., Krohg‐Sørensen, K., & Paus, B. (2025) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2025.105035 · Cited by 1
Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome
Elhance, A., Lian, T., Mahoney, R. C., Huntley, D. P., Holmes, K. W., Russo, M., Wiszniewski, W. K., Byers, P. H., & Shalhub, S. (2026) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2026.01.018 · Cited by 2
Self-citationGhali, N., Angwin, C., Liebert, S., Deaner, A., von Klemperer, K., Wheeldon, N. M., Johnson, D. S., Sobey, G. J., Samani, N. J., Webb, T. R., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02074-1 · Cited by 1
Peters, P. N. J., van der Zande, J. A., Prakash, S. K., Harris, J., Troost, E., Tobler, D., Bouma, B. J., & Roos‐Hesselink, J. (2026) · International Journal of Cardiology Congenital Heart Disease · doi:10.1016/j.ijcchd.2026.100671 · Cited by 2
Ahmed, Z., Govindareddy, P., Mathew, J., Yanamala, N. V. K., & Sengupta, P. P. (2026) · BioData Mining · doi:10.1186/s13040-026-00564-y · Cited by 1
LeMaire, S. A., Zhang, L., Zhang, C., Vela, D. C., Js, C., & Shen, Y. (2026) · Annals of Surgery · doi:10.1097/sla.0000000000007133 · Cited by 2
Stellenwert genetischer Untersuchungen beim Management des thorakalen Aortenaneurysmas (TAAD)
Schmidtke, J. (2016) · Gefässchirurgie · doi:10.1007/s00772-016-0182-2 · Cited by 1
Albuisson, J., Legrand, A., Billon, C., Mazzella, J. M., Frank, M., Adham, S., & Jeunemaı̂tre, X. (2020) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/j.banm.2020.07.035 · Cited by 1
Case 30-2021: A 47-Year-Old Man with Recurrent Unilateral Head and Neck Pain
Lindsay, M. E., Dudzinski, D. M., Yoon, B. C., Jaff, M. R., & Thakuria, J. V. (2021) · New England Journal of Medicine · doi:10.1056/nejmcpc2107347 · Cited by 1
Aortic Anatomy and the Pathophysiology of Acute Aortic Syndromes
Huckaby, L. V., & Gleason, T. G. (2021) · Springer eBooks · doi:10.1007/978-3-030-66668-2_2 · Cited by 2
Genetics and Genomics of Congenital and Acquired Cardiovascular Disease
Martinez, H. R., Beasley, G. S., Jefferies, J. L., & Towbin, J. A. (2020) · Springer eBooks · doi:10.1007/978-1-4471-4999-6_89-2 · Cited by 1
Taurino, J., Micaglio, E., Raucci, A. R., Zanussi, M., Chessa, M., Udugampolage, N. S., Carrera, P., Pappone, C., & Pini, A. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1110392 · Cited by 1
Sneezing-Induced Subclavian Arterial Rupture: A Case of Vascular Ehlers-Danlos Syndrome in a Child
Hanada, T., Kanno, K., Ito, Y., Yamagami, Y., & Yoshizawa, K. (2023) · Cureus · doi:10.7759/cureus.51324 · Cited by 1
Backer, J. F. A. D., Mosquera, L. M., & Elefteriades, J. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95484-6.00023-3 · Cited by 1
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
Green, C. E., Albaba, S., Sobey, G. J., Bowen, J. M., Donnelly, D. E., Colombi, M., Ritelli, M., Melville, A. A. D., Ghali, N., van Dijk, F. S., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01849-2 · Cited by 1
Morris, S. A., & Milewicz, D. M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812532-8.00005-7 · Cited by 1
Inherited cause of in utero digital malformations
Gooch, C. F., Wright, C., Nelson, K., & Robin, N. H. (2020) · BMJ Case Reports · doi:10.1136/bcr-2019-232020 · Cited by 1
Mori, K., Ishii, H., Sakaguchi, S., Sakurahara, D., Iwasaki, A., & Furukawa, K. (2022) · Annals of Vascular Diseases · doi:10.3400/avd.cr.21-00122 · Cited by 1
Cardiovascular Manifestations and Complications in Marfan, Loyes - Dietz, Ehlers - Danlos Syndromes
Trisvetova, E. L. (2021) · Кардиология в Беларуси · doi:10.34883/pi.2021.13.4.011 · Cited by 1
Disappearing multiple visceral aneurysms in Vascular Ehlers-Danlos syndrome
Pennetta, F. F., Ferrer, C., Tonidandel, L., Coscarella, C., Vagnarelli, S., & Giudice, R. (2023) · Vascular · doi:10.1177/17085381231162126 · Cited by 1
Fujita, D. (2018) · International Heart Journal · doi:10.1536/ihj.18-452 · Cited by 2
Lin, J., Wu, S., Lin, C., Jin, S., Chen, L., Luo, J., Xu, S., Jin, L., Yu, M., Zheng, Y., et al. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.126.050327
[Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV
Baek, T., Kim, M., Ki, C., Park, S. H., Lee, H., Kim, K. R., & Choi, B. H. (2016) · Korean Journal of Legal Medicine · doi:10.7580/kjlm.2016.40.2.61
Molecular Genetics and Prenatal Diagnosis
Milunsky, A., Baldwin, C. T., & Milunsky, J. M. (2015) · Wiley eBooks · doi:10.1002/9781118981559.ch9
Loeys, B. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802708-0.00008-9
Frank, M. (2016) · Elsevier eBooks · doi:10.1016/b978-2-294-74970-4.00057-9
Tobin, M. K., & Testai, F. D. (2017) · Primer on Cerebrovascular Diseases · doi:10.1016/b978-0-12-803058-5.00107-7
The Vascular Type Ehlers-Danlos Syndrome Diagnosed after Delivery
Kim, S., & Kang, Y. D. (2017) · Perinatology · doi:10.14734/pn.2017.28.4.166
Cardiovascular Manifestations in Inherited Connective Tissue Disorders
Backer, J. F. A. D., & Paepe, A. D. (2018) · Springer eBooks · doi:10.1007/978-3-319-66114-8_20
Cevallos, C., Vargas, E., Sergio González, B., & Molgó, M. (2018) · Revista médica de Chile · doi:10.4067/s0034-98872018000800938 · Cited by 3
Timely diagnosis of vascular Ehlers Danlos syndrome - the need for genetic testing and counselling
Feben, C., Kromberg, J. G. R., McDonald, A., & Krause, A. (2018) · South African Journal of Surgery · doi:10.17159/2078-5151/2018/v56n3a2440
Cherednichenko, Y. V., Miroshnychenko, A. Y., Dzyak, L., Zorin, N., Grygoruk, S., Гавва, Е. А., & Tolubaiev, A. N. (2018) · Endovascular Neuroradiology · doi:10.26683/2304-9359-2018-2(24)-87-96
Clinical Aspects of Heritable Connective Tissue Disorders
Verstraeten, A., & Loeys, B. (2019) · Springer eBooks · doi:10.1007/978-3-7091-4874-7_34
Non‐ M arfan Aortopathies and the Pregnant Patient
Bois, J. P., & Connolly, H. M. (2019) · Wiley eBooks · doi:10.1002/9781119409861.ch20
Lavoie, M., & Reese, J. (2019) · BMJ Case Reports · doi:10.1136/bcr-2019-231537
A Diversified Approach for the Prevention of Pediatric Sudden Cardiovascular Death in Japan
Kato, T. (2020) · Circulation Journal · doi:10.1253/circj.cj-20-0139
Genetic Basis of Stroke Occurrence, Prevention, and Outcome
Meschia, J. F., & Fornage, M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-69424-7.00019-3
The Role of Genetics in Risk Stratification of Thoracic Aortic Aneurysm Dissection
Bento, J. R., Meester, J., Luyckx, I., Verstraeten, A., & Loeys, B. (2020) · Hearts · doi:10.3390/hearts1020007
腎動脈破裂で発症し，次世代シークエンサーを用いて診断に至った血管型エーラス・ダンロス症候群の1例
幸恵, 佐., 紀通, 小., 圭, 渋., 将也, 宮., 山口智美, 考英, 中., 崇司, 長., 万基人, 佐., Umeyama, A., 船田, 竜., et al. (2019) · 心臓 · doi:10.11281/shinzo.51.949
Molecular Genetics and Prenatal Diagnosis
Milunsky, J. M. (2021) · Wiley eBooks · doi:10.1002/9781119676980.ch14
COL3A1 Missense Variant in a Patient Presenting With Hemoptysis
Riaz, A., Portocarrero, J. P., Hoel, A. W., Yeldandi, A. V., Dellefave‐Castillo, L. M., Paparello, J. J., D’Amico, J. E. D., & Wilsbacher, L. D. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.121.003386
Genetically-Triggered Aortic Dissections
Russo, M. L., & Ding, J. J. (2021) · Springer eBooks · doi:10.1007/978-3-030-66668-2_4
Felling, R. J., & Dowling, M. M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00033-3
Sardar, S., Karsdal, M. A., & Henriksen, K. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-817068-7.00032-x
Echocardiography in Patients with Inherited Connective Tissue Disorders
Cheng, A. M., Lewin, M., & Olson, A. K. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-40125-8.00038-x
INTRACRANIAL EMBOLIZATION: A RARE COMPLICATION
Lazić, I., Todorovic, M. S., Knežević, S., Nedeljković, Ž., Vukašinović, I., & Jovanović, V. (2022) · Facta Universitatis Series Medicine and Biology · doi:10.22190/fumb211226010l
Heo, W. Y., Jang, S. Y., Park, T. K., Ki, C., Kim, J., Kim, D., & Jang, J. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4149501
A Case of Vascular Ehlers-Danlos Syndrome Presenting with Multiple Cerebral Arterial Dissections
Yang, B. S. K., Lee, B., Ko, Y., & Kim, J. Y. (2022) · Journal of the Korean Neurological Association · doi:10.17340/jkna.2022.4.4
The dysmorphic phenotype in vascular Ehlers Danlos syndrome
Lyness, J. R., & Morrison, P. J. (2022) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000437
Shimizu, K., Kameoka, Y., Motohashi, K., Munetomo, Y., Kurata, N., & Sadaoka, S. (2023) · Annals of Vascular Diseases · doi:10.3400/avd.cr.22-00130
Unusual Presentation of Vascular Ehlers Danlos Syndrome in a Pediatric Patient
Drury, A. M., Landman, M. P., & Billmire, D. F. (2023) · PEDIATRICS · doi:10.1542/peds.2022-057017
(2023) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477299-ch31
Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses
Patel, J., Neville, C., Kumar, R., Grey‐Davies, E., Hutt, R., van Dijk, F. S., Chan, L. Y., & Walter, E. J. (2023) · JRSM Open · doi:10.1177/20542704231215970
Nielsen, S. H., Sardar, S., Karsdal, M. A., & Henriksen, K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15617-5.00046-9
Miscellaneous Skeletal and Connective Tissue Disorders
Grange, C., & Shiels, S. A. (2024) · Cambridge University Press eBooks · doi:10.1017/9781009070256.014
Malattie vascolari rare non infiammatorie delle arterie cervicali
Nehme, A., Weber, S., & Touzé, E. (2024) · EMC - Neurologia · doi:10.1016/s1634-7072(23)48699-0
Toegebracht schedelhersenletsel bij kinderen
Nagtegaal, M., van Berkestijn, F. M. C., van Rijn, R. R., & Bilo, R. A. C. (2024) · Bohn Stafleu van Loghum eBooks · doi:10.1007/978-90-368-2960-1_7
Ehlers-Danlos syndrome: From bedside to bench
(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4557-7
Jnani, J., Dejanovic, I., Leung, C., & Singh, A. (2024) · Cureus · doi:10.7759/cureus.61847
Collagenopathies – The Ehlers-Danlos syndromes
Malfait, F. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-822951-4.00011-4
Yokoyama, D., Tajima, Y., Nakano, S., & Yoshida, Y. (2024) · Surgery for Cerebral Stroke · doi:10.2335/scs.52.111
Utama, S., Cale, J. M., Mitrpant, C., Fletcher, S., Wilton, S. D., & Aung-Htut, M. T. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25168816
Avarand, M., PINARCI, C., Çınar, C., & Oran, İ. (2024) · SN Comprehensive Clinical Medicine · doi:10.1007/s42399-024-01714-1
Bonnet, W., Dowling, M. M., & Felling, R. J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00040-6
Dhanekula, A., Zettervall, S. L., Dimarakis, I., & DeRoo, S. C. (2024) · Aorta · doi:10.1055/s-0044-1795131
Moustafa, W., Singh, T., Siddiqi, A., Sehgal, A. A., & Afghan, B. (2025) · Cureus · doi:10.7759/cureus.76952
RetractedMardy, A. H., & Whitney, M. A. (2025) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0000000000001359
Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms
Ríos, J. L. D. L. C., & Magee, G. A. (2025) · Cardiology Clinics · doi:10.1016/j.ccl.2024.12.014 · Cited by 1
Keita, M. I. S. U., Sakaguchi, T., Ohtaka, K., Uno, A., Fukazawa, A., Matsumoto, K., & Suzuki, S. (2024) · Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association) · doi:10.3919/jjsa.85.1085
Shalhub, S. (2025) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2025.101823
Kelly, J. F., Chung, J. C. Y., Zalvidar, J., Lindsay, T. F., Crawford, S., Salvatori, M., Tan, K. T., Witheford, M., & Ouzounian, M. (2025) · Seminars in Thoracic and Cardiovascular Surgery · doi:10.1053/j.semtcvs.2025.06.005
Tanikawa, A., Nemoto, M., & Watabe, K. (2025) · Vascular Specialist International · doi:10.5758/vsi.250044
Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome
Jaiswal, M., Mansoorshahi, S., Zachariah, S., Macedo, T. A., Cecchi, A. C., Zhao, B., Buja, L. M., Milewicz, D. M., Oderich, G. S., Afifi, R. O., et al. (2025) · JACC Case Reports · doi:10.1016/j.jaccas.2025.105424
Vascular Ehlers-Danlos Syndrome
DePace, N. L., Soloway, S., Yayac, M. F., & Colombo, J. (2025) · Springer eBooks · doi:10.1007/978-3-031-88769-7_6
Postpartum Presentation of a Variant of Uncertain Significance in COL3A1: A Case Report
Khamissi, F. Z., Bachur, C. D., Palatnik, A., Russo, M. L., Shanahan, M. A., & Polnaszek, B. (2025) · American Journal of Perinatology · doi:10.1055/a-2722-8222
Aggressive clinical course of vascular Ehlers-Danlos syndrome with a novel COL3A1 variant
Orimoto, Y., Takagi, J., Arima, T., & Kodama, A. (2025) · BMJ Case Reports · doi:10.1136/bcr-2025-268094
Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms
Ríos, J. L. D. L. C., & Magee, G. A. (2025) · Heart Failure Clinics · doi:10.1016/j.hfc.2025.09.001
Morard, M., Espinasse, B., & Espitia, O. (2025) · European Journal of Vascular and Endovascular Surgery · doi:10.1016/j.ejvs.2025.12.021
Milinković, A., Došen, M. D., Rotkvić, P. G., Krčmar, T., Jurca, I., Frković, S. H., & Kirhmajer, M. V. (2025) · Cardiologia Croatica · doi:10.15836/ccar2025.248
Sivalingam, D. S., Vien, I., & Kuo, C. K. (2026) · Annual Review of Biomedical Engineering · doi:10.1146/annurev-bioeng-110824-033814
Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage
Yamaguchi, T., Ikawa, M., Ikeda, K., Katsuki, A., Ueno, A., & Nishiyama, Y. (2026) · Internal Medicine · doi:10.2169/internalmedicine.6033-25
Tadakawa, M., Yamaguchi, T., Tomita, H., Mochii, N., Hamada, H., Tsubata, M., Kosho, T., Aoki, Y., & Saito, M. (2026) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.70299
Furuhata‐Yoshimura, M., Yamaguchi, T., & Kosho, T. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70178
New Frontiers in the Management of Aortic Disease
Qiu, Y., Coutinho, T. A., Heshka, J., Guo, M., Richer, J., McLean, K., Ghadie, N. M., & Boodhwani, M. (2026) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2026.02.042
Bhandari, A., Keene, D. R., Tufa, S. F., Flanagan, C. P., Sakai, L. Y., & Shalhub, S. (2026) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2026.102334
Local sequence context determines the effect of glycine substitutions in collagen triple helices
Persikov, A. V. (2026) · Biophysical Journal · doi:10.1016/j.bpj.2026.06.028
Abdominal Aortic Pseudoaneurysm
Hernández, M. L. S., Kohli, U., Duarte, D., Cervantes, L. F., Barreto, A. M. R., Bolivar, J. H., Khan, D., Kalfa, D., Taubman, M., & Rua, I. (2026) · JACC Case Reports · doi:10.1016/j.jaccas.2026.109008
Almheiri, S., ElMubarak, A., & Fadlalsaed, O. (2026) · Cureus · doi:10.7759/cureus.114336 · Cited by 1
Politano, A. D., Lian, T., Krishnamoorthi, H., Abraham, C., Shalhub, S., & Kaufman, J. (2026) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2026.102478
Metadata
- Authors
- Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H.
- Affiliations
- University of Washington (US)
- Corresponding author
- Pepin, Melanie G.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2014-12
- Volume
- 16
- Issue
- 12
- Pages
- 881-888
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2030732677
- Cited by
- 313
- References
- 16
- Citations by year
- 2026: 29 · 2025: 30 · 2024: 35 · 2023: 29 · 2022: 37 · 2021: 27 · 2020: 24 · 2019: 30 · 2018: 26 · 2017: 18 · 2016: 16 · 2015: 10 · 2014: 2
- FWCI
- 10.04
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- vascular Ehlers-Danlos syndrome, COL3A1 mutation, missense mutations, splice site mutation, natural history (disease), survival, allelic heterogeneity, gender differences, bowel complications, vascular complications, family counseling, clinical trial selection
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Child, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Female, Humans, Male, Middle Aged, Mutation, RNA Splicing, Genetic Variation, Treatment Outcome, Mutation, Missense, Collagen Type III, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
