Publications
Genetics of muscle diseases
A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T. & 38 others, May 6 2021, In: American Journal of Human Genetics. 108, 5, p. 840-856 17 p.
POLRMT mutations impair mitochondrial transcription causing neurological disease
Oláhová, M., Peter, B., Szilagyi, Z., Diaz-Maldonado, H., Singh, M., Sommerville, E. W., Blakely, E. L., Collier, J. J., Hoberg, E., Stránecký, V., Hartmannová, H., Bleyer, A. J., McBride, K. L., Bowden, S. A., Korandová, Z., Pecinová, A., Ropers, H. H., Kahrizi, K., Najmabadi, H., Tarnopolsky, M. A. & 19 others, , Feb 18 2021, In: Nature communications. 12, 1, p. 1135 1135.
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites
Bruels, C. C., Li, C., Mendoza, T., Khan, J., Reddy, H. M., Estrella, E. A., Ghosh, P. S., Darras, B. T., Lidov, H. G. W., Pacak, C. A., Kunkel, L. M., Modave, F., Draper, I. & Kang, P. B., Mar 2019, In: Molecular genetics & genomic medicine.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan
Saha, M., Reddy, H. M., Salih, M. A., Estrella, E., Jones, M. D., Mitsuhashi, S., Cho, K. A., Suzuki-Hatano, S., Rizzo, S. A., Hamad, M. H., Mukhtar, M. M., Hamed, A. A., Elseed, M. A., Lek, M., Valkanas, E., Macarthur, D. G., Kunkel, L. M., Pacak, C. A., Draper, I. & Kang, P. B., Nov 2018, In: Physiological genomics. 50, 11, p. 929-939 11 p.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
Reddy, H. M., Cho, K. A., Lek, M., Estrella, E., Valkanas, E., Jones, M. D., Mitsuhashi, S., Darras, B. T., Amato, A. A., Lidov, H. G., Brownstein, C. A., Margulies, D. M., Yu, T. W., Salih, M. A., Kunkel, L. M., Macarthur, D. G. & Kang, P. B., Feb 1 2017, In: Journal of Human Genetics. 62, 2, p. 243-252 10 p.
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt
Reddy, H. M., Hamed, S. A., Lek, M., Mitsuhashi, S., Estrella, E., Jones, M. D., Mahoney, L. J., Duncan, A. R., Cho, K. A., Macarthur, D. G., Kunkel, L. M. & Kang, P. B., Oct 1 2016, In: Muscle and Nerve. 54, 4, p. 690-695 6 p.
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
Mitsuhashi, S., Boyden, S. E., Estrella, E. A., Jones, T. I., Rahimov, F., Yu, T. W., Darras, B. T., Amato, A. A., Folkerth, R. D., Jones, P. L., Kunkel, L. M. & Kang, P. B., Dec 2013, In: Neuromuscular Disorders. 23, 12, p. 975-980 6 p.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
Boyden, S. E., Mahoney, L. J., Kawahara, G., Myers, J. A., Mitsuhashi, S., Estrella, E. A., Duncan, A. R., Dey, F., DeChene, E. T., Blasko-Goehringer, J. M., Bönnemann, C. G., Darras, B. T., Mendell, J. R., Lidov, H. G. W., Nishino, I., Beggs, A. H., Kunkel, L. M. & Kang, P. B., May 2012, In: Neurogenetics. 13, 2, p. 115-124 10 p.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
Boyden, S. E., Duncan, A. R., Estrella, E. A., Lidov, H. G. W., Mahoney, L. J., Katz, J. S., Kunkel, L. M. & Kang, P. B., Jun 28 2011, In: BMC medical genetics. 12, 87.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
Boyden, S. E., Salih, M. A., Duncan, A. R., White, A. J., Estrella, E. A., Burgess, S. L., Seidahmed, M. Z., Al-Jarallah, A. S., Alkhalidi, H. M. S., Al-Maneea, W. M., Bennett, R. R., Alshemmari, S. H., Kunkel, L. M. & Kang, P. B., Oct 2010, In: Neurogenetics. 11, 4, p. 449-455 7 p.
LGMD2I in a North American population
Kang, P. B., Feener, C. A., Estrella, E., Thorne, M., White, A. J., Darras, B. T., Amato, A. A. & Kunkel, L. M., 2007, In: BMC Musculoskeletal Disorders. 8, 115.
A novel mutation in two families with limb-girdle muscular dystrophy type 2C
Duncan, D. R., Kang, P. B., Rabbat, J. C., Briggs, C. E., Lidov, H. G. W., Darras, B. T. & Kunkel, L. M., Jul 2006, In: Neurology. 67, 1, p. 167-169 3 p.
The Notch pathway in muscle disease
-- Li et al, 2021
The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila
Draper, I., Saha, M., Stonebreaker, H., Salomon, R. N., Matin, B. & Kang, P. B., Apr 2019, In: FEBS Letters. 593, 7, p. 680-696 17 p.
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy
Saha, M., Rizzo, S. A., Ramanathan, M., Hightower, R. M., Santostefano, K. E., Terada, N., Finkel, R. S., Berg, J. S., Chahin, N., Pacak, C. A., Wagner, R. E., Alexander, M. S., Draper, I. & Kang, P. B., Jul 15 2019, In: Human molecular genetics. 28, 14, p. 2365-2377 13 p.
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions
Saha, M., Mitsuhashi, S., Jones, M. D., Manko, K., Reddy, H. M., Bruels, C. C., Cho, K. A., Pacak, C. A., Draper, I. & Kang, P. B., Aug 1 2017, In: Human molecular genetics. 26, 15, p. 2984-3000 17 p.
-- Draper et al, 2014
Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy
Mitsuhashi, S., Mitsuhashi, H., Alexander, M. S., Sugimoto, H. & Kang, P. B., Sep 17 2013, In: FEBS Letters. 587, 18, p. 2952-2957 6 p.