Francomano, Clair A.

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E., & Cutting, G. A. (1993) · Science

RNA Research and SplicingRNA and protein synthesis mechanisms

Cited by 417

Neurological and spinal manifestations of the Ehlers–Danlos syndromes

Henderson, F. C., Austin, C., Benzel, E., Bolognese, P., Ellenbogen, R., Francomano, C. A., Ireton, C., Klinge, P., Koby, M., Long, D., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 238

Pain management in the Ehlers–Danlos syndromes

Chopra, P., Tinkle, B., Hamonet, C., Brock, I., Gompel, A., Bulbena, A., & Francomano, C. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 209

Ehlers-Danlos syndrome, classical type

Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 184

Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., et al. (2018) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 176

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome

Roma, M., Marden, C. L., De Wandele, I., Francomano, C. A., & Rowe, P. C. (2018) · Autonomic Neuroscience

Cardiovascular Syncope and Autonomic DisordersConnective tissue disorders research

Cited by 133

The international consortium on the Ehlers–Danlos syndromes

Bloom, L., Byers, P., Francomano, C., Tinkle, B., Malfait, F., & on behalf of the Steering Committee of The International Consortium on the Ehlers‐Danlos Syndromes (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 123

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome

Miller, A. J., Stiles, L. E., Sheehan, T., Bascom, R., Levy, H. P., Francomano, C. A., & Arnold, A. C. (2020) · Autonomic Neuroscience

Cardiovascular Syncope and Autonomic DisordersConnective tissue disorders research

Cited by 102

Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

McDonnell, N. B., Gorman, B. L., Mandel, K. W., Schurman, S. H., Assanah‐Carroll, A., Mayer, S. A., Najjar, S. S., & Francomano, C. A. (2006) · American Journal of Medical Genetics Part A

Connective tissue disorders researchCardiovascular Function and Risk Factors

Cited by 92

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C. A., Kline, A. D., & Bodurtha, J. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 71

Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey

Halverson, C. M. E., Clayton, E. W., Garcia Sierra, A., & Francomano, C. (2021) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 64

Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome

Halverson, C. M. E., Cao, S., Perkins, S. M., & Francomano, C. A. (2023) · Genetics in Medicine Open

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 47

Mast cell activation syndrome: Current understanding and research needs

Castells, M., Giannetti, M. P., Hamilton, M. J., Novak, P., Pozdnyakova, O., Nicoloro-SantaBarbara, J., Jennings, S. V., Francomano, C., Kim, B., Glover, S. C., et al. (2024) · Journal of Allergy and Clinical Immunology

Mast cells and histamineFood Allergy and Anaphylaxis Research

Cited by 45

Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

Hakim, A. J., Tinkle, B. T., & Francomano, C. A. (2021) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 37

Use of prescription opioid and other drugs among a cohort of persons with Ehlers–Danlos syndrome: A retrospective study

Schubart, J. R., Schilling, A., Schaefer, E., Bascom, R., & Francomano, C. (2019) · American Journal of Medical Genetics Part A

Opioid Use Disorder TreatmentConnective tissue disorders research

Cited by 26

Gastrointestinal medication burden among persons with the Ehlers‐Danlos syndromes

Dhingra, R., Bascom, R., Thompson, E., Francomano, C. A., & Schubart, J. R. (2021) · Neurogastroenterology & Motility

Connective tissue disorders researchGastrointestinal motility and disorders

Cited by 7