Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O’Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Diagnostic capabilities of nanopore long read sequencing in muscular dystrophy. Annals of Clinical and Translational Neurology 2022;9:1302-1309. PMID: 35734998.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann A, Laugel V, Mohammed S, Kang PB. The spectrum of MORC2-related disorders: a potential link to Cockayne syndrome. Pediatric Neurology 2023;141:79-86. PMID: 36791574.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O’Donnell-Luria A, Syeda SB, Carrera-García, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathologica 2023;145:479-496. PMID: 36799992.
Kang PB, Jorand-Fletcher M, Zhang W, McDermott S, Berry R, Chambers C, Wong K, Mohamed Y, Thomas S, Venkatesh YS, Westfield C, Whitehead N, Johnson NE, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Genetic patterns of selected muscular dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. Neurology Genetics 2023;9:e200113. PMID: 38045992
Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive decline and other late-stage neurologic complications of Cockayne syndrome. Neurology Clinical Practice 2024;14:e200309. PMID: 38808024.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB. Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle & Nerve 2024;70:843-850. PMID: 39072769.
Rajamani G, Pillai NR, Stafki SA, Karachunski PI, Kang PB. Predicting the phenotype of Pompe disease from features of GAA variants. European Journal of Human Genetics 2025;33:688-691. PMID: 39775060.
Nelson RW, Cox CA, Stark MM, Johnson AD, Sichmeller K, Earhart J, Ihinger JM, Stafki SA, Karachunski PI, Kang PB*. Reduction of pre-existing AAV9 antibody titers prior to onasemnogene abeparvovec administration in twins with spinal muscular atrophy. Neurology 2025;105:e213899. PMID: 40705999.
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA*, Kang PB*. Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development. FEBS Journal 2025;292:4854-4869. PMID: 39823152.
Gunasekaran M, Campos G, Wells NM, Lambuu K, Draper I, Pacak CA, Kang PB*. ACSS2 involved in acetyl-CoA synthesis regulates skeletal muscle function. FEBS Letters 2025;epub September 12. PMID: 40936396.
Littel HR, Gunasekaran M, Daugherty AL, Wells NM, Turner J, Bruels CC, Pacak CA, Draper I, Kang PB*. The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells. FEBS Open Bio 2025;epub September 13. PMID: 40944391.
Zhou H, Rajamani G, Huang J, Jorand-Fletcher M, Mohamed Y, DeGolier KA, Xenopoulos-Oddsson A, Cui E, Zingariello CD, Zhang R, Kang PB*. Accelerating medical record data abstraction and analysis in muscular dystrophy; large language models and ICD codes. Neurology Clinical Practice 2025;15:e200542. PMID: 40994811.
