Blackburn, Patrick R.

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

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 24

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: early-onset colonic diverticular disease

Marek, T., Mahan, M. A., Amrami, K. K., Blackburn, P. R., Caffes, P. L., Carter, J. M., Camilleri, M., & Spinner, R. J. (2020) · Neurogastroenterology & Motility

Neurofibromatosis and Schwannoma CasesHereditary Neurological Disorders

Cited by 6