My laboratory conducts genomic analyses of muscular dystrophy using cutting edge techniques, focusing on solving genetically undiagnosed cases, particularly of limb-girdle muscular dystrophy. We developed a novel software pipeline to detect hidden splice site variants. I led an international consortium that described the association of pathogenic variants in JAG2 with muscular dystrophy in 2021. The other major current project in my laboratory focuses on the role of Notch pathway dysfunction in inherited muscle disease, especially regarding interactions with the protein MEGF10, encoded by a gene of the same name that is associated with a rare inherited muscle disease.
- Neurology. 2022 Nov 22;99(21):929-930. Can we generalize key principles in the care of rare diseases? The case for adrenoleukodystrophy.
- Muscle Nerve. 2022 Nov;66(5):530-544. The Notch signaling pathway in skeletal muscle health and disease.
- Muscle Nerve. 2022 Oct 3. doi: 10.1002/mus.27721. Peripheral neuropathies associated with DNA repair disorders.
- Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
- Dev Med Child Neurol. 2022 Oct;64(10):1254-1261. Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury.
- Chrzanowski SM, McAnally MM, Kang PB. An opportune time for newborn screening in Duchenne muscular dystrophy. JAMA Neurol. 2021 Aug 1;78(8):901-902.
- Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB. Phenotypic implications of pathogenic variant types in Pompe disease. J Hum Genet. 2021 Nov;66(11):1089-1099.
- Li C, Vargas-Franco D, Saha M, Davis RM, Manko KA, Draper I, Pacak CA, Kang PB. Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. FEBS Open Bio. 2021 Jan;11(1):114-123.
- Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. Erratum in: Am J Hum Genet. 2021 Jun 3;108(6):1164.
- Estrella EA, Kang PB. Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty. Muscle Nerve. 2021 Mar;63(3):282-284.
- Alexander MS, Hightower RM, Reid AL, Bennett AH, Iyer L, Slonim DK, Saha M, Kawahara G, Kunkel LM, Kopin AS, Gupta VA, Kang PB, Draper I. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021;63(6):928-940.
- Barton ER, Pacak CA, Stoppel WL, Kang PB. The ties that bind: functional clusters in limb-girdle muscular dystrophy. Skelet Muscle. 2020 Jul 29;10(1):22.
- Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Kang PB. Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. Hum Mol Genet. 2019 Jul 15;28(14):2365-2377.