Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Janelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A Reghan Foley, Payam Mohassel, Carsten G Bönnemann

HGG Adv., 2024

Giant axonal neuropathy: cross sectional analysis of a large natural history cohort.

D. Bharucha-Goebel, G. Norato, D. Saade, E. Paredes, Victoria Biancavilla, S. Donkervoort, R. Kaur, T. Lehky, M. Fink, D. Armao, S. Gray, M. Waite, S. Debs, G. Averion, Ying Hu, W. Zein, A. Foley, M. Jain, C. Bönnemann

Brain : a journal of neurology, 2021

Differential gene expression identifies a transcriptional regulatory network involving ER-alpha and PITX1 in invasive epithelial ovarian cancer

Yichao Li, S. Jaiswal, Rupleen Kaur, D. Alsaadi, Xiaoyu Liang, F. Drews, J. Deloia, T. Krivak, H. Petrykowska, Valer Gotea, L. Welch, L. Elnitski

BMC cancer, 2021

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

V. Bolduc, K. Minor, Ying Hu, R. Kaur, S. Friedenberg, S. V. Buren, Ling T Guo, Joseph C. Glennon, K. Marioni-Henry, J. Mickelson, C. Bönnemann, G. Shelton

Neuromuscular Disorders, 2020

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin, K. Chao, Y. Hu, I. Al Khatib, A. Töpf, P. Mohassel, B. Cummings, R. Kaur, D. Saade, S. Moore, L. Waddell, M. Farrar, J. Goodrich, P. Uapinyoying, S. Chan, A. Javed, M. Leach, P. Karachunski, J. Dalton, L. Medne, A. Harper, C. Thompson, I. Thiffault, S. Specht, R. Lamont, C. Saunders, H. Racher, F. Bernier, D. Mowat, N. Witting, J. Vissing, R. Hanson, K. Coffman, M. Hainlen, J. Parboosingh, A. Carnevale, G. Yoon, R. Schnur, K. Boycott, J. Mah, V. Straub, A. Foley, A. Innes, C. Bönnemann, T. Shutt

Acta Neuropathologica, 2019

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

V. Shashi, M. Magiera, D. Klein, M. Zaki, K. Schoch, S. Rudnik-Schöneborn, A. Norman, O. Lopes Abath Neto, M. Dusl, Xidi Yuan, Luca Bartesaghi, P. De Marco, A. Alfares, R. Marom, S. Arold, Francisco J. Guzmán-Vega, L. Pena, E. Smith, M. Steinlin, Mohamed O E Babiker, P. Mohassel, A. Foley, S. Donkervoort, R. Kaur, P. Ghosh, Valentina Stanley, D. Musaev, C. Nava, C. Mignot, B. Keren, M. Scala, E. Tassano, P. Picco, P. Doneda, C. Fiorillo, M. Issa, A. Alassiri, A. Alahmad, A. Gerard, P. Liu, Yaping Yang, B. Ertl-Wagner, P. Kranz, I. Wentzensen, R. Stucka, N. Stong, A. Allen, D. Goldstein, B. Schoser, K. Rösler, M. Alfadhel, V. Capra, R. Chrast, T. Strom, E. Kamsteeg, C. Bönnemann, J. Gleeson, R. Martini, C. Janke, J. Senderek

The EMBO journal, 2018