Mena T. Scavina, DO

Apkon, S., Kinnett, K., Cripe, L., Duan, D., Jackson, J. L., Kornegay, J. N., & Flanigan, K. M. (2021). Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. Journal of Neuromuscular Diseases, 8(2), 315-322. doi:10.3233/JND-200555

Stabley, D. L., Holbrook, J., Scavina, M., Crawford, T. O., Swoboda, K. J., Robbins, K. M., & Butchbach, M. E. R. (2021). Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics, 22(1), 53-64. doi:10.1007/s10048-020-00630-5

Dankwa, L., Richardson, J., Motley, W. W., Scavina, M., Courel, S., Bardakjian, T., & Scherer, S. S. (2019). A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular Disorders, 29(2), 134-137. doi:10.1016/j.nmd.2018.12.008

Burns, D. T., Donkervoort, S., Muller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., & Bonnemann, C. G. (2018). Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. American Journal of Human Genetics, 102(5), 858-873. doi:10.1016/j.ajhg.2018.03.011

Chen, D.-H., Ma, M., Scavina, M., Blue, E., Wolff, J., Karna, P., & Bird, T. D. (2018). An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. Muscle and Nerve, 57(5), 859-862. doi:10.1002/mus.26037

Brenn, B. R., Theroux, M. T., Shah, S. A., Mackenzie, W. G., Heinle, R., & Scavina, M. T. (2018). Critical airway stenosis in an adolescent male with pompe disease and thoracic lordosis: A case report. In 100 Selected Case Reports from Anesthesia and Analgesia. doi:10.1213/XAA.0000000000000564

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., & Raas-Rothschild, A. (2017). Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clinical Genetics, 91(5), 725-738. doi:10.1111/cge.12914

Gripp, K. W., Baker, L., Kandula, V., Conard, K., Scavina, M., Napoli, J. A., & Keppler-Noreuil, K. M. (2016). Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. American Journal of Medical Genetics, Part A, 170(10), 2559-2569. doi:10.1002/ajmg.a.37758

Jensen, B. S., Willer, T., Saade, D. N., Cox, M. O., Mozaffar, T., Scavina, M., & Mathews, K. D. (2015). GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Human Mutation, 36(12), 1159-1163. doi:10.1002/humu.22898

Stabley, D. L., Harris, A. W., Holbrook, J., Chubbs, N. J., Lozo, K. W., Crawford, T. O., & Butchbach, M. E. R. (2015). Smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr. Molecular Genetics and Genomic Medicine, 3(4), 248-257. doi:10.1002/mgg3.141