Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C Sreenath, Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, Mozelle, M, Chinault, A C, Patel, A, Bacino, C A, Sahoo, T, Kang, S H, Cheung, S W, Lupski, J R, Stankiewicz, P
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases
Edelman, EA, Girirajan, S, Finucane, B, Patel, PI, Lupski, JR, Smith, ACM, Elsea, SH
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
Leipoldt, M, Erdel, M, Bien-Willner, GA, Smyk, M, Theurl, M, Yatsenko, SA, Lupski, JR, Lane, AH, Shanske, AL, Stankiewicz, P, Scherer, G
Published in Clinical genetics (01.01.2007)
Published in Clinical genetics (01.01.2007)
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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Olfactory copy number association with age at onset of Alzheimer disease
Shaw, C A, Li, Y, Wiszniewska, J, Chasse, S, Zaidi, S N Y, Jin, W, Dawson, B, Wilhelmsen, K, Lupski, J R, Belmont, J W, Doody, R S, Szigeti, K
Published in Neurology (12.04.2011)
Published in Neurology (12.04.2011)
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
Yan, J, Zhang, F, Brundage, E, Scheuerle, A, Lanpher, B, Erickson, R P, Powis, Z, Robinson, H B, Trapane, P L, Stachiw-Hietpas, D, Keppler-Noreuil, K M, Lalani, S R, Sahoo, T, Chinault, A C, Patel, A, Cheung, S W, Lupski, J R
Published in Journal of medical genetics (01.09.2009)
Published in Journal of medical genetics (01.09.2009)
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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease
Bilir, B, Yapici, Z, Yalcinkaya, C, Baris, I, Carvalho, CMB, Bartnik, M, Ozes, B, Eraksoy, M, Lupski, JR, Battaloglu, E
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
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Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)
England, J.D., Gronseth, G.S., Franklin, G., Carter, G.T., Kinsella, L.J., Cohen, J.A., Asbury, A.K., Szigeti, K., Lupski, J.R., Latov, N., Lewis, R.A., Low, P.A., Fisher, M.A., Herrmann, D., Howard, J.F., Lauria, G., Miller, R.G., Polydefkis, M., Sumner, A.J.
Published in Muscle & nerve (01.01.2009)
Published in Muscle & nerve (01.01.2009)
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Molecular and phenotypic characterization of atypical Williams-Beuren syndrome
Euteneuer, J., Carvalho, C.M.B., Kulkarni, S., Vineyard, M., Mark Grady, R., Lupski, J.R., Shinawi, M.
Published in Clinical genetics (01.11.2014)
Published in Clinical genetics (01.11.2014)
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Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)
England, J.D., Gronseth, G.S., Franklin, G., Carter, G.T., Kinsella, L.J., Cohen, J.A., Asbury, A.K., Szigeti, K., Lupski, J.R., Latov, N., Lewis, R.A., Low, P.A., Fisher, M.A., Herrmann, D., Howard, J.F., Lauria, G., Miller, R.G., Polydefkis, M., Sumner, A.J.
Published in Muscle & nerve (01.01.2009)
Published in Muscle & nerve (01.01.2009)
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Hanchard, NA, Murdock, DR, Magoulas, PL, Bainbridge, M, Muzny, D, Wu, YQ, Wang, M, McGuire, AL, Lupski, JR, Gibbs, RA, Brown, CW
Published in Clinical genetics (01.05.2013)
Published in Clinical genetics (01.05.2013)
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