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  • Stephan L Zuchner
2013

C9orf72 intermediate repeat copies are a significant risk factor for parkinson disease

Nuytemans, K., Bademci, G., Kohli, M. M., Beecham, G. W., Wang, L., Young, J. I., Nahab, F., Martin, E. R., Gilbert, J. R., Benatar, M., Haines, J. L., Scott, W. K., Züchner, S., Pericak-Vance, M. A. & Vance, J. M., Sep 2013, In : Annals of Human Genetics. 77, 5, p. 351-363 13 p.

Research output: Contribution to journalArticle

46 Scopus citations

Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder

Ozomaro, U., Cai, G., Kajiwara, Y., Yoon, S., Makarov, V., Delorme, R., Betancur, C., Ruhrmann, S., Falkai, P., Grabe, H. J., Maier, W., Wagner, M., Lennertz, L., Moessner, R., Murphy, D. L., Buxbaum, J. D., Züchner, S. & Grice, D. E., Aug 21 2013, In : PloS one. 8, 8, e70376.

Research output: Contribution to journalArticle

26 Scopus citations

Correction: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. (PLoS ONE)

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Zuc̈hner, S., Blanton, S. & Tekin, M., May 17 2013, In : PloS one. 8, 5

Research output: Contribution to journalComment/debate

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Varga, R. E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J., Alvarez, V., Gamez, J., Garbern, J. Y., Nürnberg, P., Zuchner, S. & Beetz, C., Jun 1 2013, In : Human mutation. 34, 6, p. 860-863 4 p.

Research output: Contribution to journalArticle

16 Scopus citations

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

Norton, N., Li, D., Rampersaud, E., Morales, A., Martin, E. R., Zuchner, S., Guo, S., Gonzalez, M., Hedges, D. J., Robertson, P. D., Krumm, N., Nickerson, D. A. & Hershberger, R. E., Apr 1 2013, In : Circulation: Cardiovascular Genetics. 6, 2, p. 144-153 10 p.

Research output: Contribution to journalArticle

70 Scopus citations

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

Gonzalez, M., McLaughlin, H., Houlden, H., Guo, M., Liu, Y. T., Hadjivassilious, M., Speziani, F., Yang, X. L., Antonellis, A., Reilly, M. M. & Züchner, S., Nov 2013, In : Journal of Neurology, Neurosurgery and Psychiatry. 84, 11, p. 1247-1249 3 p.

Research output: Contribution to journalArticle

70 Scopus citations

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

Gonzalez, M. A., Lebrigio, R. F. A., Van Booven, D., Ulloa, R. H., Powell, E., Speziani, F., Tekin, M., Schüle, R. & Züchner, S., Jun 1 2013, In : Human mutation. 34, 6, p. 842-846 5 p.

Research output: Contribution to journalArticle

60 Scopus citations

Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

Landouré, G., Zhu, P. P., Lourenço, C. M., Johnson, J. O., Toro, C., Bricceno, K. V., Rinaldi, C., Meilleur, K. G., Sangaré, M., Diallo, O., Pierson, T. M., Ishiura, H., Tsuji, S., Hein, N., Fink, J. K., Stoll, M., Nicholson, G., Gonzalez, M. A., Speziani, F., Dürr, A. & 11 others, Stevanin, G., Biesecker, L. G., Accardi, J., Landis, D. M. D., Gahl, W. A., Traynor, B. J., Marques, W., Züchner, S., Blackstone, C., Fischbeck, K. H. & Burnett, B. G., Oct 1 2013, In : Human mutation. 34, 10, p. 1357-1360 4 p.

Research output: Contribution to journalArticle

46 Scopus citations
12 Scopus citations

Improved coverage and accuracy with strand-conserving sequence enrichment

Guettouche, T. & Zuchner, S., May 29 2013, In : Genome Medicine. 5, 5, 46.

Research output: Contribution to journalArticle

1 Scopus citations

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers

Murdock, D. G., Bradford, Y., Schnetz-Boutaud, N., Mayo, P., Allen, M. J., D'Aoust, L. N., Liang, X., Mitchell, S. L., Zuchner, S., Small, G. W., Gilbert, J. R., Pericak-Vance, M. A. & Haines, J. L., Dec 12 2013, In : PloS one. 8, 12, e82194.

Research output: Contribution to journalArticle

7 Scopus citations

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Martin, E., Schüle, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., Durr, A., Martin, J. J., Schöls, L., Mhiri, C., Lamari, F., Züchner, S., De Jonghe, P., Kabashi, E. & 2 others, Brice, A. & Stevanin, G., Feb 7 2013, In : American journal of human genetics. 92, 2, p. 238-244 7 p.

Research output: Contribution to journalArticle

99 Scopus citations

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

Oates, E. C., Rossor, A. M., Hafezparast, M., Gonzalez, M., Speziani, F., Macarthur, D. G., Lek, M., Cottenie, E., Scoto, M., Foley, A. R., Hurles, M., Houlden, H., Greensmith, L., Auer-Grumbach, M., Pieber, T. R., Strom, T. M., Schule, R., Herrmann, D. N., Sowden, J. E., Acsadi, G. & 6 others, Menezes, M. P., Clarke, N. F., Züchner, S., Muntoni, F., North, K. N. & Reilly, M. M., Jun 6 2013, In : American journal of human genetics. 92, 6, p. 965-973 9 p.

Research output: Contribution to journalArticle

97 Scopus citations

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

Gonzalez, M., Nampoothiri, S., Kornblum, C., Oteyza, A. C., Walter, J., Konidari, I., Hulme, W., Speziani, F., Schöls, L., Züchner, S. & Schüle, R., Nov 1 2013, In : European Journal of Human Genetics. 21, 11, p. 1214-1218 5 p.

Research output: Contribution to journalArticle

39 Scopus citations

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

Kohli, M. A., John-Williams, K., Rajbhandary, R., Naj, A., Whitehead, P., Hamilton, K., Carney, R. M., Wright, C., Crocco, E., Gwirtzman, H. E., Lang, R., Beecham, G., Martin, E. R., Gilbert, J., Benatar, M., Small, G. W., Mash, D., Byrd, G., Haines, J. L., Pericak-Vance, M. A. & 1 others, Züchner, S., May 2013, In : Neurobiology of aging. 34, 5, p. 1519.e5-1519.e12

Research output: Contribution to journalArticle

53 Scopus citations

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Williams, S. L., Mash, D. C., Züchner, S. & Moraes, C. T., 2013, In : PLoS genetics. 9, 12, e1003990.

Research output: Contribution to journalArticle

48 Scopus citations

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Züchner, S., Beecham, G. W., Martin, E. R., Scott, W. K. & Vance, J. M., Mar 12 2013, In : Neurology. 80, 11, p. 982-989 8 p.

Research output: Contribution to journalArticle

51 Scopus citations
2012

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., Oteyza, A. C., El-Hachimi, K. H., Al Drees, A., Bouslam, N., Lamari, F., Elmalik, S. A., Kabiraj, M. M., Seidahmed, M. Z. & 22 others, Esteves, T., Gaussen, M., Monin, M. L., Gyapay, G., Lechner, D., Gonzalez, M., Depienne, C., Mochel, F., Lavie, J., Schols, L., Lacombe, D., Yahyaoui, M., Al Abdulkareem, I., Zuchner, S., Yamashita, A., Benomar, A., Goizet, C., Durr, A., Gleeson, J. G., Darios, F., Brice, A. & Stevanin, G., Dec 7 2012, In : American journal of human genetics. 91, 6, p. 1051-1064 14 p.

Research output: Contribution to journalArticle

105 Scopus citations

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

McLaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Jan 1 2012, In : Human mutation. 33, 1, p. 244-253 10 p.

Research output: Contribution to journalArticle

56 Scopus citations

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

Osterloh, J. M., Yang, J., Rooney, T. M., Fox, A. N., Adalbert, R., Powell, E. H., Sheehan, A. E., Avery, M. A., Hackett, R., Logan, M. A., MacDonald, J. M., Ziegenfuss, J. S., Milde, S., Hou, Y. J., Nathan, C., Ding, A., Brown, R. H., Conforti, L., Coleman, M., Tessier-Lavigne, M. & 2 others, Züchner, S. & Freeman, M. R., Jul 27 2012, In : Science. 337, 6093, p. 481-484 4 p.

Research output: Contribution to journalArticle

256 Scopus citations

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era

Norton, N., Robertson, P. D., Rieder, M. J., Züchner, S., Rampersaud, E., Martin, E., Li, D., Nickerson, D. A. & Hershberger, R. E., Apr 1 2012, In : Circulation: Cardiovascular Genetics. 5, 2, p. 167-174 8 p.

Research output: Contribution to journalArticle

87 Scopus citations

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Zimoń, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloǧlu, E., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., Petersen, B. S., Müller, T., Fransen, E., Van Damme, P., Löscher, W. N., Bariši, N., Mitrovic, Z., Previtali, S. C. & 17 others, Topaloǧlu, H., Bernert, G., Beleza-Meireles, A., Todorovic, S., Savic-Pavicevic, D., Ishpekova, B., Lechner, S., Peeters, K., Ooms, T., Hahn, A. F., Züchner, S., Timmerman, V., Van Dijck, P., Rasic, V. M., Janecke, A. R., De Jonghe, P. & Jordanova, A., Oct 1 2012, In : Nature genetics. 44, 10, p. 1080-1083 4 p.

Research output: Contribution to journalArticle

67 Scopus citations

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D'Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., Strickland, A., Gonzalez, M. A., Baumbach-Reardon, L., Deconinck, T., Huang, J., Bernardi, G., Vance, J. M., Rogers, M. T., Tsuji, S., De Jonghe, P. & 5 others, Pericak-Vance, M. A., Schöls, L., Orlacchio, A., Reid, E. & Züchner, S., Feb 2012, In : Journal of Clinical Investigation. 122, 2, p. 538-544 7 p.

Research output: Contribution to journalArticle

94 Scopus citations

Mutations in the gene DNAJC5 cause autosomal dominant kufs disease in a proportion of cases: Study of the parry family and 8 other families

Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T. & Züchner, S., Jan 3 2012, In : PloS one. 7, 1, e29729.

Research output: Contribution to journalArticle

52 Scopus citations

Vitamin D receptor and Alzheimer's disease: A genetic and functional study

Wang, L., Hara, K., Van Baaren, J. M., Price, J. C., Beecham, G. W., Gallins, P. J., Whitehead, P. L., Wang, G., Lu, C., Slifer, M. A., Züchner, S., Martin, E. R., Mash, D., Haines, J. L., Pericak-Vance, M. A. & Gilbert, J. R., Aug 2012, In : Neurobiology of aging. 33, 8, p. 1844.e1-1844.e9

Research output: Contribution to journalArticle

60 Scopus citations

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Züchner, S., Blanton, S. & Tekin, M., Nov 30 2012, In : PloS one. 7, 11, e50628.

Research output: Contribution to journalArticle

99 Scopus citations

Whole genome sequencing and a new bioinformatics platform allow for rapid gene identification in d. melanogaster EMS screens

Gonzalez, M. A., VanBooven, D., Hulme, W., Ulloa, R. H., Lebrigio, R. F. A., Osterloh, J., Logan, M., Freeman, M. & Zuchner, S., Dec 5 2012, In : Biology. 1, 3, p. 766-777 12 p.

Research output: Contribution to journalArticle

8 Scopus citations
2011

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Choi, B. O., Hee Kang, S., Hyun, Y. S., Kanwal, S., Park, S. W., Koo, H., Kim, S. B., Choi, Y. C., Yoo, J. H., Kim, J. W., Park, K. D., Choi, K. G., Ja Kim, S., Züchner, S. & Chung, K. W., Jun 1 2011, In : Human mutation. 32, 6, p. 669-677 9 p.

Research output: Contribution to journalArticle

26 Scopus citations

Comparison of three targeted enrichment strategies on the Solid sequencing platform

Hedges, D. J., Guettouche, T., Yang, S., Bademci, G., Diaz, A., Andersen, A., Hulme, W. F., Linker, S., Mehta, A., Edwards, Y. J. K., Beecham, G. W., Martin, E. R., Pericak-Vance, M. A., Zuchner, S., Vance, J. M. & Gilbert, J. R., 2011, In : PloS one. 6, 4, e18595.

Research output: Contribution to journalArticle

61 Scopus citations

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J. K., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M. & Züchner, S., Mar 1 2011, In : Annals of neurology. 69, 3, p. 464-470 7 p.

Research output: Contribution to journalArticle

95 Scopus citations

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

Norton, N., Li, D., Rieder, M. J., Siegfried, J. D., Rampersaud, E., Züchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S., Reiser, J., Martin, E., Nickerson, D. A. & Hershberger, R. E., Mar 11 2011, In : American journal of human genetics. 88, 3, p. 273-282 10 p.

Research output: Contribution to journalArticle

208 Scopus citations

In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations

Daftarian, P., Chowdhury, R., Ames, P., Wei, C., King, A. D., De Rivero Vaccari, J. P., Dillon, L., Price, J., Leung, H., Ashlock, B., Mesri, E., Perez, V., Züchner, S., Reiser, J., Lemmon, V. & Keane, R. W., Oct 1 2011, In : Hybridoma. 30, 5, p. 409-418 10 p.

Research output: Contribution to journalArticle

5 Scopus citations

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

McCorquodale, D. S., Montenegro, G., Peguero, A., Carlson, N., Speziani, F., Price, J., Taylor, S. W., Melanson, M., Vance, J. M. & Züchner, S., Jul 1 2011, In : Journal of Neurology. 258, 7, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

Mccorquodale, D. S., Ozomaro, U., Huang, J., Montenegro, G., Kushman, A., Citrigno, L., Price, J., Speziani, F., Pericak-Vance, M. A. & Züchner, S., Jun 1 2011, In : Clinical Genetics. 79, 6, p. 523-530 8 p.

Research output: Contribution to journalArticle

27 Scopus citations

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S. & Tekin, M., Aug 12 2011, In : American journal of human genetics. 89, 2, p. 289-294 6 p.

Research output: Contribution to journalArticle

117 Scopus citations

Vitamin D Receptor Gene as a Candidate Gene for Parkinson Disease

Butler, M. W., Burt, A., Edwards, T. L., Zuchner, S., Scott, W. K., Martin, E. R., Vance, J. M. & Wang, L., Mar 1 2011, In : Annals of Human Genetics. 75, 2, p. 201-210 10 p.

Research output: Contribution to journalArticle

79 Scopus citations

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

Züchner, S., Dallman, J., Wen, R., Beecham, G., Naj, A., Farooq, A., Kohli, M. A., Whitehead, P. L., Hulme, W., Konidari, I., Edwards, Y. J. K., Cai, G., Peter, I., Seo, D., Buxbaum, J. D., Haines, J. L., Blanton, S., Young, J., Alfonso, E., Vance, J. M. & 2 others, Lam, B. L. & Peričak-Vance, M. A., Feb 11 2011, In : American journal of human genetics. 88, 2, p. 201-206 6 p.

Research output: Contribution to journalArticle

110 Scopus citations