DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B. by Bolino, A, Lonie, L, Zimmer, M, Boerkoel, C, Monaco, A, Lupski, JR

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of muta... by Bolino, A, Lonie, L, Zimmer, M, Boerkoel, C, Takashima, H, Monaco, A, Lupski, JR

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. by Vester, A, Velez-Ruiz, G, McLaughlin, H, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo by Vester, A, Velez-Ruiz, G, McLaughlin, H, Nisc, C, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Zuechner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A, Progra, N

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. by McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A

Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder by Dias, CM, Punetha, J, Zheng, C, Mazaheri, N, Rad, A, Efthymiou, S, Petersen, A, Dehghani, M, Pehlivan, D, Partlow, JN, Posey, JE, Salpietro, V, Gezdirici, A, Malamiri, RA, Menabawy, NM, Selim, LA, Mehrjardi, MY, Banu, S, Polla, DL, Yang, E, Varaghchi, J, Mitani, T, Van Beusekom, E, Najafi, M, Sedaghat, A, Keller-Ramey, J, Durham, L, Coban-Akdemir, Z, Karaca, E, Orlova, V, Schaeken, LLM, Sherafat, A, Jhangiani, SN, Stanley, V, Shariati, G, Galehdari, H, Gleeson, JG, Walsh, CA, Lupski, JR, Seiradake, E, Houlden, H, Van Bokhoven, H, Maroofian, R

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities by Wiszniewski, W, Hunter, J, Hanchard, N, Willer, JR, Shaw, C, Tian, Q, Illner, A, Wang, X, Cheung, S, Patel, A, Campbell, I, Gelowani, V, Hixson, P, Ester, A, Azamian, MS, Potocki, L, Zapata, G, Hernandez, P, Ramocki, M, Santos-Cortez, R, Wang, G, York, M, Justice, M, Chu, Z, Bader, P, Omo-Griffith, L, Madduri, N, Scharer, G, Crawford, H, Yanatatsaneejit, P, Eifert, A, Kerr, J, Bacino, C, Franklin, A, Goin-Kochel, R, Simpson, G, Immken, L, Haque, M, Stosic, M, Williams, MD, Morgan, T, Pruthi, S, Omary, R, Boyadjiev, SA, Win, K, Thida, A, Hurles, M, Hibberd, M, Khor, C, Van Vinh Chau, N, Gallagher, T, Mutirangura, A, Stankiewicz, P, Beaudet, A, Maletic-Savatic, M, Rosenfeld, J, Shaffer, L, Davis, E, Belmont, J, Dunstan, S, Simmons, C, Bonnen, P, Leal, S, Katsanis, N, Lupski, JR, Lalani, SR

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. by Wiszniewski, W, Hunter, J, Hanchard, N, Willer, JR, Shaw, C, Tian, Q, Illner, A, Wang, X, Cheung, S, Patel, A, Campbell, I, Gelowani, V, Hixson, P, Ester, A, Azamian, MS, Potocki, L, Zapata, G, Hernandez, P, Ramocki, M, Santos-Cortez, R, Wang, G, York, M, Justice, M, Chu, Z, Bader, P, Omo-Griffith, L, Madduri, N, Scharer, G, Crawford, H, Yanatatsaneejit, P, Eifert, A, Kerr, J, Bacino, C, Franklin, A, Goin-Kochel, R, Simpson, G, Immken, L, Haque, M, Stosic, M, Williams, MD, Morgan, T, Pruthi, S, Omary, R, Boyadjiev, SA, Win, K, Thida, A, Hurles, M, Hibberd, M, Khor, C, Van Vinh Chau, N, Gallagher, T, Mutirangura, A, Stankiewicz, P, Beaudet, A, Maletic-Savatic, M, Rosenfeld, J, Shaffer, L, Davis, E, Belmont, J, Dunstan, S, Simmons, C, Bonnen, P, Leal, S, Katsanis, N, Lupski, JR, Lalani, SR