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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

Phenotypic Spectrum of PNPT1: Interferonopathy or Not?

D. Schorling, R. Kaur, S. Donkervoort, C. Bönnemann, A. Lee-Kirsch, J. Kirschner, M. Eckenweiler, W. Janzarik

Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics, 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

CMT AND NEUROGENIC DISEASE P.337Giant axonal neuropathy presenting as CMT2: results from the NIH natural history study

D. Saade, D. Bharucha-Goebel, G. Norato, A. Foley, M. Waite, M. Jain, S. Debs, R. Vasavada, C. Nichols, R. Kaur, S. Donkervoort, S. Neuhaus, Y. Hu, T. Lehky, S. Gray, M. Fink

Neuromuscular Disorders, 2018

NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy

S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, S. Iannaccone, D. Macarthur, A. Foley, M. Schwake, C. Bönnemann

Neuromuscular Disorders, 2018

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