GENE DISCOVERIES

Since its inception as GEM.app in 2011, GENESIS has contributed to the discovery of 72 new disease genes, or has helped expanding their known phenotype/genotype relationship significantly.

[ WHICH HAVE USED OR CITED GENESIS APP ]

UGP2

Perenthaler E, Nikoncuk A, Yousefi S, et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol. 2020:415-442. PMID: 31820119.

UGDH

Hengel H, Bosso-Lefèvre C, Grady G, et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020:595. PMID: 32001716.

RNF170

Wagner M, Osborn DPS, Gehweiler I, et al. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019:4790. PMID: 31636353.

 

UBAP1

Farazi Fard MA, Rebelo AP, Buglo E, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019:767-773. PMID: 30929741.

RFC1

Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019:649-658. PMID: 30926972.

SIPA1L2

Tao F, Beecham GW, Rebelo AP, et al; Inherited Neuropathy Consortium. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019:316-330. PMID: 30706531.

GDAP2

Eidhof, J. Baets, E.-J. Kamsteeg, T. Deconinck, L. van Ninhuijs, J.-J. Martin, R. Schüle, S. Zuchner, P. De Jonghe, A. Schenck, and B. P. van de Warrenburg, “GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia,” Brain, vol. 2016, no. Pt B, p. baw093, Aug. 2018.

SCO2

A. P. Rebelo, D. Saade, C. V. Pereira, A. Farooq, T. C. Huff, L. Abreu, C. T. Moraes, D. Mnatsakanova, K. Mathews, H. Yang, E. A. Schon, S. Zuchner, and M. E. Shy, “SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency,” Brain, vol. 141, no. 3, pp. 662–672, Mar. 2018.

 

ATP1A1

P. Lassuthova, A. P. Rebelo, G. Ravenscroft, P. J. Lamont, M. R. Davis, F. Manganelli, S. M. Feely, C. Bacon, D. Š. Brožková, J. Haberlova, R. Mazanec, F. Tao, C. Saghira, L. Abreu, S. Courel, E. Powell, E. Buglo, D. M. Bis, M. F. Baxter, R. W. Ong, L. Marns, Y.-C. Lee, Y. Bai, D. G. Isom, R. Barro-Soria, K. W. Chung, S. S. Scherer, H. P. Larsson, N. G. Laing, B.-O. Choi, P. Seeman, M. E. Shy, L. Santoro, and S. Zuchner, “Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2,” The American Journal of Human Genetics, vol. 102, no. 3, pp. 505–514, Mar. 2018.

CHP1

N. Mendoza-Ferreira, M. Coutelier, E. Janzen, S. Hosseinibarkooie, H. Löhr, S. Schneider, J. Milbradt, M. Karakaya, M. Riessland, C. Pichlo, L. Torres-Benito, A. Singleton, S. Zuchner, A. Brice, A. Dürr, M. Hammerschmidt, G. Stevanin, and B. Wirth, “Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function,” Neurol Genet, vol. 4, no. 1, p. e209, Feb. 2018.

 

TBK1

C. Wilke, J. Baets, J. L. De Bleecker, T. Deconinck, S. Biskup, S. N. Hayer, S. Zuchner, R. Schüle, P. De Jonghe, and M. Synofzik, “Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes,” Neurobiol. Aging, vol. 62, pp. 244.e9–244.e13, Feb. 2018.

 

STUB1 /CHIP

S. N. Hayer, T. Deconinck, B. Bender, K. Smets, S. Zuchner, S. Reich, L. Schöls, R. Schüle, P. De Jonghe, J. Baets, and M. Synofzik, “STUB1 /CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations,” Orphanet J Rare Dis, vol. 12, no. 1, p. 31, Dec. 2017.

 

TIA1

I. R. Mackenzie, A. M. Nicholson, M. Sarkar, J. Messing, M. D. Purice, C. Pottier, K. Annu, M. Baker, R. B. Perkerson, A. Kurti, B. J. Matchett, T. Mittag, J. Temirov, G.-Y. R. Hsiung, C. Krieger, M. E. Murray, M. Kato, J. D. Fryer, L. Petrucelli, L. Zinman, S. Weintraub, M. Mesulam, J. Keith, S. A. Zivkovic, V. Hirsch-Reinshagen, R. P. Roos, S. Zuchner, N. R. Graff-Radford, R. C. Petersen, R. J. Caselli, Z. K. Wszolek, E. Finger, C. Lippa, D. Lacomis, H. Stewart, D. W. Dickson, H. J. Kim, E. Rogaeva, E. Bigio, K. B. Boylan, J. P. Taylor, and R. Rademakers, “TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics,” Neuron, vol. 95, no. 4, pp. 808–816.e9, Aug. 2017.

 

BAG3

M. Shy, A. P. Rebelo, S. M. Feely, L. A. Abreu, F. Tao, A. Swenson, C. Bacon, and S. Zuchner, “Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease,” J Neurol Neurosurg Psychiatry, vol. 65, no. 3, pp. jnnp–2017–315929–315, Jul. 2017.

P4HA1

Y. Zou, S. Donkervoort, A. M. Salo, A. R. Foley, A. M. Barnes, Y. Hu, E. Makareeva, M. E. Leach, P. Mohassel, J. Dastgir, M. A. Deardorff, R. D. Cohn, W. O. DiNonno, F. Malfait, M. Lek, S. Leikin, J. C. Marini, J. Myllyharju, and C. G. Bonnemann, “P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.,” Hum. Mol. Genet., vol. 26, no. 12, pp. 2207–2217, Jun. 2017.

POLR3A

M. Minnerop, D. Kurzwelly, H. Wagner, A. S. Soehn, J. Reichbauer, F. Tao, T. W. Rattay, M. Peitz, K. Rehbach, A. Giorgetti, A. Pyle, H. Thiele, J. Altmüller, D. Timmann, I. Karaca, M. Lennarz, J. Baets, H. Hengel, M. Synofzik, B. Atasu, S. Feely, M. Kennerson, C. Stendel, T. Lindig, M. A. Gonzalez, R. Stirnberg, M. Sturm, S. Roeske, J. Jung, P. Bauer, E. Lohmann, S. Herms, S. Heilmann-Heimbach, G. Nicholson, M. Mahanjah, R. Sharkia, P. Carloni, O. Brüstle, T. Klopstock, K. D. Mathews, M. E. Shy, P. De Jonghe, P. F. Chinnery, R. Horvath, J. Kohlhase, I. Schmitt, M. Wolf, S. Greschus, K. Amunts, W. Maier, L. Schöls, P. Nürnberg, S. Zuchner, T. Klockgether, A. Ramirez, and R. Schüle, “Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.,” Brain, vol. 140, no. 6, pp. 1561–1578, Jun. 2017.

DST

F. Manganelli, S. Parisi, M. Nolano, F. Tao, S. Paladino, C. Pisciotta, S. Tozza, C. Nesti, A. P. Rebelo, V. Provitera, F. M. Santorelli, M. E. Shy, T. Russo, S. Zuchner, and L. Santoro, “Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.,” Neurology, vol. 88, no. 22, pp. 2132–2140, May 2017.

CNTNAP1

H. Hengel, A. Magee, M. Mahanjah, J.-M. Vallat, R. Ouvrier, M. Abu-Rashid, J. Mahamid, R. Schüle, M. Schulze, I. Krägeloh-Mann, P. Bauer, S. Zuchner, R. Sharkia, and L. Schöls, “CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.,” Neurol Genet, vol. 3, no. 2, p. e144, Apr. 2017.

WARS

P.-C. Tsai, B.-W. Soong, I. Mademan, Y.-H. Huang, C.-R. Liu, C.-T. Hsiao, H.-T. Wu, T.-T. Liu, Y.-T. Liu, Y.-T. Tseng, K.-P. Lin, U.-C. Yang, K. W. Chung, B.-O. Choi, G. A. Nicholson, M. L. Kennerson, C.-C. Chan, P. De Jonghe, T.-H. Cheng, Y.-C. Liao, S. Zuchner, J. Baets, and Y.-C. Lee, “A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.,” Brain, vol. 140, no. 5, pp. 1252–1266, Mar. 2017.

ATP13A2

A. Estrada-Cuzcano, S. Martin, T. Chamova, M. Synofzik, D. Timmann, T. Holemans, A. Andreeva, J. Reichbauer, R. De Rycke, D.-I. Chang, S. van Veen, J. Samuel, L. Schöls, T. Pöppel, D. Mollerup Sørensen, B. Asselbergh, C. Klein, S. Zuchner, A. Jordanova, P. Vangheluwe, I. Tournev, and R. Schüle, “Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).,” Brain, vol. 140, no. 2, pp. 287–305, Feb. 2017.

TYROBP

C. Pottier, T. A. Ravenscroft, P. H. Brown, N. A. Finch, M. Baker, M. Parsons, Y. W. Asmann, Y. Ren, E. Christopher, D. Levitch, M. van Blitterswijk, C. Cruchaga, D. Campion, G. Nicolas, A.-C. Richard, R. Guerreiro, J. T. Bras, S. Zuchner, M. A. Gonzalez, G. Bu, S. Younkin, D. S. Knopman, K. A. Josephs, J. E. Parisi, R. C. Petersen, N. Ertekin-Taner, N. R. Graff-Radford, B. F. Boeve, D. W. Dickson, and R. Rademakers, “TYROBP genetic variants in early-onset Alzheimer's disease.,” Neurobiol. Aging, vol. 48, pp. 222.e9–222.e15, Dec. 2016.

SIGMAR1

A. Horga, P. J. Tomaselli, M. A. Gonzalez, M. Laurá, F. Muntoni, A. Y. Manzur, M. G. Hanna, J. C. Blake, H. Houlden, S. Zuchner, and M. M. Reilly, “SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.,” Neurology, vol. 87, no. 15, pp. 1607–1612, Oct. 2016.

MME

M. Auer-Grumbach, S. Toegel, M. Schabhüttl, D. Weinmann, C. Chiari, D. L. H. Bennett, C. Beetz, D. Klein, P. M. Andersen, I. Böhme, R. Fink-Puches, M. Gonzalez, M. B. Harms, W. Motley, M. M. Reilly, W. Renner, S. Rudnik-Schöneborn, B. Schlotter-Weigel, A. C. Themistocleous, J. H. Weishaupt, A. C. Ludolph, T. Wieland, F. Tao, L. Abreu, R. Windhager, M. Zitzelsberger, T. M. Strom, T. Walther, S. S. Scherer, S. Zuchner, R. Martini, and J. Senderek, “Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.,” Am. J. Hum. Genet., vol. 99, no. 3, pp. 607–623, Sep. 2016.

CMTX3

M. H. Brewer, R. Chaudhry, J. Qi, A. Kidambi, A. P. Drew, M. P. Menezes, M. M. Ryan, M. A. Farrar, D. Mowat, G. M. Subramanian, H. K. Young, S. Zuchner, S. W. Reddel, G. A. Nicholson, and M. L. Kennerson, “Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.,” PLoS Genet., vol. 12, no. 7, p. e1006177, Jul. 2016.

PMP2

W. W. Motley, P. Palaima, S. W. Yum, M. A. Gonzalez, F. Tao, J. V. Wanschitz, A. V. Strickland, W. N. Löscher, E. De Vriendt, S. Koppi, L. Medne, A. R. Janecke, A. Jordanova, S. Zuchner, and S. S. Scherer, “De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.,” Brain, vol. 139, no. 6, pp. 1649–1656, Jun. 2016.

SLC39A14

K. Tuschl, E. Meyer, L. E. Valdivia, N. Zhao, C. Dadswell, A. Abdul-Sada, C. Y. Hung, M. A. Simpson, W. K. Chong, T. S. Jacques, R. L. Woltjer, S. Eaton, A. Gregory, L. Sanford, E. Kara, H. Houlden, S. M. Cuno, H. Prokisch, L. Valletta, V. Tiranti, R. Younis, E. R. Maher, J. Spencer, A. Straatman-Iwanowska, P. Gissen, L. A. M. Selim, G. Pintos-Morell, W. Coroleu-Lletget, S. S. Mohammad, S. Yoganathan, R. C. Dale, M. Thomas, J. Rihel, O. A. Bodamer, C. A. Enns, S. J. Hayflick, P. T. Clayton, P. B. Mills, M. A. Kurian, and S. W. Wilson, “Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.,” Nat Commun, vol. 7, p. 11601, May 2016.

ROR1

O. Diaz-Horta, C. Abad, L. Sennaroglu, J. Foster, A. DeSmidt, G. Bademci, S. Tokgoz-Yilmaz, D. Duman, F. B. Cengiz, M. Grati, S. Fitoz, X. Z. Liu, A. Farooq, F. Imtiaz, B. B. Currall, C. C. Morton, M. Nishita, Y. Minami, Z. Lu, K. Walz, and M. Tekin, “ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.,” Proc. Natl. Acad. Sci. U.S.A., vol. 113, no. 21, pp. 5993–5998, May 2016.

SYNE1

M. Synofzik, K. Smets, M. Mallaret, D. Di Bella, C. Gallenmüller, J. Baets, M. Schulze, S. Magri, E. Sarto, M. Mustafa, T. Deconinck, T. Haack, S. Zuchner, M. Gonzalez, D. Timmann, C. Stendel, T. Klopstock, A. Dürr, C. Tranchant, M. Sturm, W. Hamza, L. Nanetti, C. Mariotti, M. Koenig, L. Schöls, R. Schüle, P. De Jonghe, M. Anheim, F. Taroni, and P. Bauer, “SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.,” Brain, vol. 139, no. 5, pp. 1378–1393, May 2016.

NEFH

A. P. Rebelo, A. J. Abrams, E. Cottenie, A. Horga, M. Gonzalez, D. M. Bis, A. Sanchez-Mejias, M. Pinto, E. Buglo, K. Markel, J. Prince, M. Laurá, H. Houlden, J. Blake, C. Woodward, M. G. Sweeney, J. L. Holton, M. Hanna, J. E. Dallman, M. Auer-Grumbach, M. M. Reilly, and S. Zuchner, “Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.,” Am. J. Hum. Genet., vol. 98, no. 4, pp. 597–614, Apr. 2016.

MORC2

O. M. Albulym, M. L. Kennerson, M. B. Harms, A. P. Drew, A. H. Siddell, M. Auer-Grumbach, A. Pestronk, A. Connolly, R. H. Baloh, S. Zuchner, S. W. Reddel, and G. A. Nicholson, “MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.,” Ann. Neurol., vol. 79, no. 3, pp. 419–427, Mar. 2016.

TTC3

M. A. Kohli, H. N. Cukier, K. L. Hamilton-Nelson, S. Rolati, B. W. Kunkle, P. L. Whitehead, S. L. Züchner, L. A. Farrer, E. R. Martin, G. W. Beecham, J. L. Haines, J. M. Vance, M. L. Cuccaro, J. R. Gilbert, G. D. Schellenberg, R. M. Carney, and M. A. Pericak-Vance, “Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.,” Neurol Genet, vol. 2, no. 1, p. e41, Feb. 2016.

ZFP106

P. I. Joyce, P. Fratta, A. S. Landman, P. Mcgoldrick, H. Wackerhage, M. Groves, B. S. Busam, J. Galino, S. Corrochano, O. A. Beskina, C. Esapa, E. Ryder, S. Carter, M. Stewart, G. Codner, H. Hilton, L. Teboul, J. Tucker, A. Lionikas, J. Estabel, R. Ramirez-Solis, J. K. White, S. Brandner, V. Plagnol, D. L. H. Bennet, A. Y. Abramov, L. Greensmith, E. M. C. Fisher, and A. Acevedo-Arozena, “Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.,” Hum. Mol. Genet., vol. 25, no. 2, pp. 291–307, Jan. 2016.

SCYL1

W. M. Schmidt, S. L. Rutledge, R. Schüle, B. Mayerhofer, S. Zuchner, E. Boltshauser, and R. E. Bittner, “Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.,” Am. J. Hum. Genet., vol. 97, no. 6, pp. 855–861, Dec. 2015.

LIMS2

J. W. Chardon, A. C. Smith, J. Woulfe, E. Pena, K. Rakhra, C. Dennie, C. Beaulieu, L. Huang, J. Schwartzentruber, C. Hawkins, M. B. Harms, S. Dojeiji, M. Zhang, FORGE Canada Consortium, J. Majewski, D. E. Bulman, K. M. Boycott, and D. A. Dyment, “LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.,” Clin. Genet., vol. 88, no. 6, pp. 558–564, Dec. 2015.

TPM3

S. Donkervoort, M. Papadaki, J. M. de Winter, M. B. Neu, J. Kirschner, V. Bolduc, M. L. Yang, M. A. Gibbons, Y. Hu, J. Dastgir, M. E. Leach, A. Rutkowski, A. R. Foley, M. Krüger, E. P. Wartchow, E. McNamara, R. Ong, K. J. Nowak, N. G. Laing, N. F. Clarke, C. A. C. Ottenheijm, S. B. Marston, and C. G. Bonnemann, “TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.,” Ann. Neurol., vol. 78, no. 6, pp. 982–994, Dec. 2015.

DRP2

K. M. Brennan, Y. Bai, C. Pisciotta, S. Wang, S. M. E. Feely, M. Hoegger, L. Gutmann, S. A. Moore, M. Gonzalez, D. L. Sherman, P. J. Brophy, S. Zuchner, and M. E. Shy, “Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.,” Neuromuscul. Disord., vol. 25, no. 10, pp. 786–793, Oct. 2015.

ALDH18A1

M. Coutelier, C. Goizet, A. Dürr, F. Habarou, S. Morais, A. Dionne-Laporte, F. Tao, J. Konop, M. Stoll, P. Charles, M. Jacoupy, R. Matusiak, I. Alonso, C. Tallaksen, M. Mairey, M. Kennerson, M. Gaussen, R. Schüle, M. Janin, F. Morice-Picard, C. M. Durand, C. Depienne, P. Calvas, P. Coutinho, J.-M. Saudubray, G. Rouleau, A. Brice, G. Nicholson, F. Darios, J. L. Loureiro, S. Zuchner, C. Ottolenghi, F. Mochel, and G. Stevanin, “Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.,” Brain, vol. 138, no. 8, pp. 2191–2205, Aug. 2015.

SLC25A46

A. J. Abrams, R. B. Hufnagel, A. Rebelo, C. Zanna, N. Patel, M.A. Gonzalez, I.J Campeanu, L.B. Griffin, S. Groenewald, A.V. Strickland, F. Tao, F. Speziani, L. Abreu, R. Schüle, L. Caporali, C. La Morgia, A. Maresca, R. Liguori, R. Lodi, Z.M. Ahmed, K. L. Sund, X. Wang, L.A. Krueger, Y. Peng, C.E. Prada, C. A. Prows, E. K. Schorry, A. Antonellis, H. H. Zimmerman, O. A. Abdul-Rahman, Y. Yang, S. M. Downes, J. Prince, F. Fontanesi, A. Barrientos, A. H. Németh, V. Carelli, T. Huang, S. Zuchner*, and J. E. Dallman*, “Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.,” Nat Genet, vol. 47, no. 8, pp. 926–932, Aug. 2015.

NAGLU

M. Tétreault, M. Gonzalez, M.-J. Dicaire, P. Allard, K. Gehring, D. Leblanc, N. Leclerc, R. Schondorf, J. Mathieu, S. Zuchner, and B. Brais, “Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.,” Brain, vol. 138, no. 6, pp. 1477–1483, Jun. 2015.

KCNA2

S. Syrbe, U. B. S. Hedrich, E. Riesch, T. Djémié, S. Müller, R. S. Møller, B. Maher, L. Hernandez-Hernandez, M. Synofzik, H. S. Caglayan, M. Arslan, J. M. Serratosa, M. Nothnagel, P. May, R. Krause, H. Löffler, K. Detert, T. Dorn, H. Vogt, G. Krämer, L. Schöls, P. E. Mullis, T. Linnankivi, A.-E. Lehesjoki, K. Sterbova, D. C. Craiu, D. Hoffman-Zacharska, C. M. Korff, Y. G. Weber, M. Steinlin, S. Gallati, A. Bertsche, M. K. Bernhard, A. Merkenschlager, W. Kiess, EuroEPINOMICS RES, M. Gonzalez, S. Zuchner, A. Palotie, A. Suls, P. De Jonghe, I. Helbig, S. Biskup, M. Wolff, S. Maljevic, R. Schüle, S. M. Sisodiya, S. Weckhuysen, H. Lerche, and J. R. Lemke, “De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.,” Nat Genet, vol. 47, no. 4, pp. 393–399, Apr. 2015.

DNAJC3

M. Synofzik, T. B. Haack, R. Kopajtich, M. Gorza, D. Rapaport, M. Greiner, C. Schönfeld, C. Freiberg, S. Schorr, R. W. Holl, M. A. Gonzalez, A. Fritsche, P. Fallier-Becker, R. Zimmermann, T. M. Strom, T. Meitinger, S. Zuchner, R. Schüle, L. Schöls, and H. Prokisch, “Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration.,” Am. J. Hum. Genet., vol. 95, no. 6, pp. 689–697, Dec. 2014.

IGHMBP2

E. Cottenie, A. Kochanski, A. Jordanova, B. Bansagi, M. Zimoń, A. Horga, Z. Jaunmuktane, P. Saveri, V. M. Rasic, J. Baets, M. Bartsakoulia, R. Ploski, P. Teterycz, M. Nikolic, R. Quinlivan, M. Laurá, M. G. Sweeney, F. Taroni, M. P. Lunn, I. Moroni, M. Gonzalez, M. G. Hanna, C. Bettencourt, E. Chabrol, A. Franke, K. von Au, M. Schilhabel, D. Kabzińska, I. Hausmanowa-Petrusewicz, S. Brandner, S. C. Lim, H. Song, B.-O. Choi, R. Horvath, K. W. Chung, S. Zuchner, D. Pareyson, M. Harms, M. M. Reilly, and H. Houlden, “Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2.,” Am. J. Hum. Genet., vol. 95, no. 5, pp. 590–601, Nov. 2014.

SYT2

D. N. Herrmann, R. Horvath, J. E. Sowden, M. Gonzales, A. Sanchez-Mejias, Z. Guan, R. G. Whittaker, J. L. Almodovar, M. Lane, B. Bansagi, A. Pyle, V. Boczonadi, H. Lochmüller, H. Griffin, P. F. Chinnery, T. E. Lloyd, J. T. Littleton, and S. Zuchner, “Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.,” Am. J. Hum. Genet., vol. 95, no. 3, pp. 332–339, Sep. 2014.

VCP

M. A. Gonzalez, S. M. Feely, F. Speziani, A. V. Strickland, M. Danzi, C. Bacon, Y. Lee, T.-F. Chou, S. H. Blanton, C. C. Weihl, S. Zuchner, and M. E. Shy, “A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.,” Brain, p. awu224, Aug. 2014.

FAM65B

O. Diaz-Horta, A. Subasioglu-Uzak, M. Grati, A. DeSmidt, J. Foster, L. Cao, G. Bademci, S. Tokgoz-Yilmaz, D. Duman, F. B. Cengiz, C. Abad, R. Mittal, S. Blanton, X. Z. Liu, A. Farooq, K. Walz, Z. Lu, and M. Tekin, “FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.,” Proc. Natl. Acad. Sci. U.S.A., vol. 111, no. 27, pp. 9864–9868, Jul. 2014.

ACTG2

W. Thorson, O. Diaz-Horta, J. Foster, M. Spiliopoulos, R. Quintero, A. Farooq, S. Blanton, and M. Tekin, “De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.,” Hum Genet, vol. 133, no. 6, pp. 737–742, Jun. 2014.

SIX6

K. O. Yariz, Y. B. Sakalar, X. Jin, J. Hertz, E. F. Sener, H. Akay, M. N. Ozbek, A. Farooq, J. Goldberg, and M. Tekin, “A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.,” Clin. Genet., pp. n/a–n/a, Apr. 2014.

REEP2

T. Esteves, A. Dürr, E. Mundwiller, J. L. Loureiro, M. Boutry, M. A. Gonzalez, J. Gauthier, K. H. El-Hachimi, C. Depienne, M.-P. Muriel, R. F. Acosta Lebrigio, M. Gaussen, A. Noreau, F. Speziani, A. Dionne-Laporte, J.-F. Deleuze, P. Dion, P. Coutinho, G. A. Rouleau, S. Zuchner, A. Brice, G. Stevanin, and F. Darios, “Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.,” Am. J. Hum. Genet., vol. 94, no. 2, pp. 268–277, Feb. 2014.

WWOX

M. Mallaret, M. Synofzik, J. Lee, C. A. Sagum, M. Mahajnah, R. Sharkia, N. Drouot, M. Renaud, F. A. C. Klein, M. Anheim, C. Tranchant, C. Mignot, J.-L. Mandel, M. Bedford, P. Bauer, M. A. Salih, R. Schüle, L. Schöls, C. M. Aldaz, and M. Koenig, “The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.,” Brain, vol. 137, no. 2, pp. 411–419, Feb. 2014.

RFVT2

A. R. Foley, M. P. Menezes, A. Pandraud, M. A. Gonzalez, A. Al-Odaib, A. J. Abrams, K. Sugano, A. Yonezawa, A. Y. Manzur, J. Burns, I. Hughes, B. G. McCullagh, H. Jungbluth, M. J. Lim, J.-P. Lin, A. Megarbane, J. A. Urtizberea, A. H. Shah, J. Antony, R. Webster, A. Broomfield, J. Ng, A. A. Mathew, J. J. O'Byrne, E. Forman, M. Scoto, M. Prasad, K. O'Brien, S. Olpin, M. Oppenheim, I. Hargreaves, J. M. Land, M. X. Wang, K. Carpenter, R. Horvath, V. Straub, M. Lek, W. Gold, M. O. Farrell, S. Brandner, R. Phadke, K. Matsubara, M. L. McGarvey, S. S. Scherer, P. S. Baxter, M. D. King, P. Clayton, S. Rahman, M. M. Reilly, R. A. Ouvrier, J. Christodoulou, S. Zuchner, F. Muntoni, and H. Houlden, “Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.,” Brain, vol. 137, no. 1, pp. 44–56, Jan. 2014.

PNPLA6

M. Synofzik, M. A. Gonzalez, C. M. Lourenco, M. Coutelier, T. B. Haack, A. Rebelo, D. Hannequin, T. M. Strom, H. Prokisch, C. Kernstock, A. Durr, L. Schöls, M. M. Lima-Martínez, A. Farooq, R. Schüle, G. Stevanin, W. Marques, and S. Züchner, “PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.,” Brain, vol. 137, no. 1, pp. 69–77, Jan. 2014.

IGSF3

J. Foster, S. Kapoor, O. Diaz-Horta, A. Singh, C. Abad, A. Rastogi, R. Moharana, O. Tekeli, K. Walz, and M. Tekin, “Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.,” Clin. Genet., pp. n/a–n/a, Dec. 2013.

FBXO38

C. J. Sumner, C. d'Ydewalle, J. Wooley, K. A. Fawcett, D. Hernandez, A. R. Gardiner, B. Kalmar, R. H. Baloh, M. Gonzalez, S. Zuchner, H. C. Stanescu, R. Kleta, A. Mankodi, D. R. Cornblath, K. B. Boylan, M. M. Reilly, L. Greensmith, A. B. Singleton, M. B. Harms, A. M. Rossor, and H. Houlden, “A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.,” Am. J. Hum. Genet., vol. 93, no. 5, pp. 976–983, Nov. 2013.

MARS

M. Gonzalez, H. McLaughlin, H. Houlden, M. Guo, L. Yo-Tsen, M. Hadjivassilious, F. Speziani, X.-L. Yang, A. Antonellis, M. M. Reilly, S. Zuchner, Inherited Neuropathy Consortium, “Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.,” J. Neurol. Neurosurg. Psychiatr., vol. 84, no. 11, pp. 1247–1249, Nov. 2013.

DDHD2

M. Gonzalez, S. Nampoothiri, C. Kornblum, A. C. Oteyza, J. Walter, I. Konidari, W. Hulme, F. Speziani, L. Schöls, S. Zuchner, and R. Schüle, “Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).,” Eur. J. Hum. Genet., vol. 21, no. 11, pp. 1214–1218, Nov. 2013.

C19orf12

G. Landouré, P.-P. Zhu, C. M. Lourenço, J. O. Johnson, C. Toro, K. V. Bricceno, C. Rinaldi, K. G. Meilleur, M. Sangaré, O. Diallo, T. M. Pierson, H. Ishiura, S. Tsuji, N. Hein, J. K. Fink, M. Stoll, G. Nicholson, M. A. Gonzalez, F. Speziani, A. Dürr, G. Stevanin, L. G. Biesecker, NIH Intramural Sequencing Center, J. Accardi, D. M. D. Landis, W. A. Gahl, B. J. Traynor, W. Marques, S. Zuchner, C. Blackstone, K. H. Fischbeck, and B. G. Burnett, “Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.,” Hum. Mutat., vol. 34, no. 10, pp. 1357–1360, Oct. 2013.

DNASE1L3

Z. B. Ozçakar, J. Foster, O. Diaz-Horta, O. Kasapcopur, Y.-S. Fan, F. Yalçınkaya, and M. Tekin, “DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome.,” Arthritis Rheum, vol. 65, no. 8, pp. 2183–2189, Aug. 2013.

B4GALNT1

A. Boukhris, R. Schüle, J. L. Loureiro, C. M. Lourenço, E. Mundwiller, M. A. Gonzalez, P. Charles, J. Gauthier, I. Rekik, R. F. Acosta Lebrigio, M. Gaussen, F. Speziani, A. Ferbert, I. Feki, A. Caballero Oteyza, A. Dionne-Laporte, M. Amri, A. Noreau, S. Forlani, V. T. Cruz, F. Mochel, P. Coutinho, P. Dion, C. Mhiri, L. Schöls, J. Pouget, F. Darios, G. A. Rouleau, W. Marques, A. Brice, A. Dürr, S. Zuchner, and G. Stevanin, “Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.,” Am. J. Hum. Genet., vol. 93, no. 1, pp. 118–123, Jul. 2013.

BICD2

E. C. Oates, A. M. Rossor, M. Hafezparast, M. Gonzalez, F. Speziani, D. G. MacArthur, M. Lek, E. Cottenie, M. Scoto, A. R. Foley, M. Hurles, H. Houlden, L. Greensmith, M. Auer-Grumbach, T. R. Pieber, T. M. Strom, R. Schüle, D. N. Herrmann, J. E. Sowden, G. Acsadi, M. P. Menezes, N. F. Clarke, S. Zuchner, UK10K, F. Muntoni, K. N. North, and M. M. Reilly, “Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.,” Am. J. Hum. Genet., vol. 92, no. 6, pp. 965–973, Jun. 2013.

SLITRK6

M. Tekin, B. A. Chioza, Y. Matsumoto, O. Diaz-Horta, H. E. Cross, D. Duman, H. Kokotas, H. L. Moore-Barton, K. Sakoori, M. Ota, Y. S. Odaka, J. Foster, F. B. Cengiz, S. Tokgoz-Yilmaz, O. Tekeli, M. Grigoriadou, M. B. Petersen, A. Sreekantan-Nair, K. Gurtz, X.-J. Xia, A. Pandya, M. A. Patton, J. I. Young, J. Aruga, and A. H. Crosby, “SLITRK6 mutations cause myopia and deafness in humans and mice.,” J Clin Invest, vol. 123, no. 5, pp. 2094–2102, May 2013.

PDK3

M. L. Kennerson, E. M. Yiu, D. T. Chuang, A. Kidambi, S.-C. Tso, C. Ly, R. Chaudhry, A. P. Drew, G. Rance, M. B. Delatycki, S. Zuchner, M. M. Ryan, and G. A. Nicholson, “A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.,” Hum. Mol. Genet., vol. 22, no. 7, pp. 1404–1416, Apr. 2013.​

GBA2

E. Martin, R. Schüle, K. Smets, A. Rastetter, A. Boukhris, J. L. Loureiro, M. A. Gonzalez, E. Mundwiller, T. Deconinck, M. Wessner, L. Jornea, A. C. Oteyza, A. Dürr, J.-J. Martin, L. Schöls, C. Mhiri, F. Lamari, S. Zuchner, P. De Jonghe, E. Kabashi, A. Brice, and G. Stevanin, “Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia,” The American Journal of Human Genetics, vol. 92, no. 2, pp. 238–244, Feb. 2013.

SZT2

M. Falcone, K. O. Yariz, D. B. Ross, J. Foster, I. Menendez, and M. Tekin, “An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability.,” PLoS ONE, vol. 8, no. 12, pp. e82810–e82810, Jan. 2013.

HARS

A. Vester, G. Velez-Ruiz, H. M. McLaughlin, NISC Comparative Sequencing Program, J. R. Lupski, K. Talbot, J. M. Vance, S. Zuchner, R. H. Roda, K. H. Fischbeck, L. G. Biesecker, G. Nicholson, A. A. Beg, and A. Antonellis, “A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.,” Hum. Mutat., vol. 34, no. 1, pp. 191–199, Jan. 2013.

D. Safka Brozkova, T. Deconinck, L. B. Griffin, A. Ferbert, J. Haberlova, R. Mazanec, P. Lassuthova, C. Roth, T. Pilunthanakul, B. Rautenstrauss, A. R. Janecke, P. Zavadakova, R. Chrast, C. Rivolta, S. Zuchner, A. Antonellis, A. A. Beg, P. De Jonghe, J. Senderek, P. Seeman, and J. Baets, “Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.,” Brain, vol. 138, no. 8, pp. 2161–2172, Aug. 2015.

DDHD1

C. Tesson, M. Nawara, M. A. M. Salih, R. Rossignol, M. S. Zaki, M. Al Balwi, R. Schüle, C. Mignot, E. Obre, A. Bouhouche, F. M. Santorelli, C. M. Durand, A. C. Oteyza, K. H. El-Hachimi, A. Al Drees, N. Bouslam, F. Lamari, S. A. Elmalik, M. M. Kabiraj, M. Z. Seidahmed, T. Esteves, M. Gaussen, M.-L. Monin, G. Gyapay, D. Lechner, M. Gonzalez, C. Depienne, F. Mochel, J. Lavie, L. Schöls, D. Lacombe, M. Yahyaoui, I. Al Abdulkareem, S. Zuchner, A. Yamashita, A. Benomar, C. Goizet, A. Dürr, J. G. Gleeson, F. Darios, A. Brice, and G. Stevanin, “Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.,” Am. J. Hum. Genet., vol. 91, no. 6, pp. 1051–1064, Dec. 2012.

CYP2U1

C. Tesson, M. Nawara, M. A. M. Salih, R. Rossignol, M. S. Zaki, M. Al Balwi, R. Schüle, C. Mignot, E. Obre, A. Bouhouche, F. M. Santorelli, C. M. Durand, A. C. Oteyza, K. H. El-Hachimi, A. Al Drees, N. Bouslam, F. Lamari, S. A. Elmalik, M. M. Kabiraj, M. Z. Seidahmed, T. Esteves, M. Gaussen, M.-L. Monin, G. Gyapay, D. Lechner, M. Gonzalez, C. Depienne, F. Mochel, J. Lavie, L. Schöls, D. Lacombe, M. Yahyaoui, I. Al Abdulkareem, S. Zuchner, A. Yamashita, A. Benomar, C. Goizet, A. Dürr, J. G. Gleeson, F. Darios, A. Brice, and G. Stevanin, “Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.,” Am. J. Hum. Genet., vol. 91, no. 6, pp. 1051–1064, Dec. 2012.

HINT1

M. Zimoń, J. Baets, L. Almeida-Souza, E. De Vriendt, J. Nikodinovic, Y. Parman, E. Battaloğlu, Z. Matur, V. Guergueltcheva, I. Tournev, M. Auer-Grumbach, P. De Rijk, B.-S. Petersen, T. Müller, E. Fransen, P. Van Damme, W. N. Löscher, N. Barišić, Z. Mitrovic, S. C. Previtali, H. Topaloğlu, G. Bernert, A. Beleza-Meireles, S. Todorovic, D. Savic-Pavicevic, B. Ishpekova, S. Lechner, K. Peeters, T. Ooms, A. F. Hahn, S. Zuchner, V. Timmerman, P. Van Dijck, V. M. Rasic, A. R. Janecke, P. De Jonghe, and A. Jordanova, “Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.,” Nat Genet, vol. 44, no. 10, pp. 1080–1083, Oct. 2012.

SARM1

J. M. Osterloh, J. Yang, T. M. Rooney, A. N. Fox, R. Adalbert, E. H. Powell, A. E. Sheehan, M. A. Avery, R. Hackett, M. A. Logan, J. M. MacDonald, J. S. Ziegenfuss, S. Milde, Y.-J. Hou, C. Nathan, A. Ding, R. H. Brown, L. Conforti, M. Coleman, M. Tessier-Lavigne, S. Zuchner, and M. R. Freeman, “dSarm/Sarm1 is required for activation of an injury-induced axon death pathway.,” Science, vol. 337, no. 6093, pp. 481–484, Jul. 2012.

RTN2

G. Montenegro, A. P. Rebelo, J. Connell, R. Allison, C. Babalini, M. D'Aloia, P. Montieri, R. Schüle, H. Ishiura, J. Price, A. Strickland, M. A. Gonzalez, L. Baumbach-Reardon, T. Deconinck, J. Huang, G. Bernardi, J. M. Vance, M. T. Rogers, S. Tsuji, P. De Jonghe, M. A. Pericak-Vance, L. Schöls, A. Orlacchio, E. Reid, and S. Zuchner, “Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.,” J Clin Invest, vol. 122, no. 2, pp. 538–544, Feb. 2012.

AARS

H. M. McLaughlin, R. Sakaguchi, W. Giblin, W. Giblin, T. E. Wilson, L. Biesecker, J. R. Lupski, K. Talbot, J. M. Vance, S. Zuchner, Y.-C. Lee, M. Kennerson, Y.-M. Hou, G. Nicholson, and A. Antonellis, “A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).,” Hum. Mutat., vol. 33, no. 1, pp. 244–253, Jan. 2012.

DNAJC5

M. Velinov, N. Dolzhanskaya, M. Gonzalez, E. Powell, I. Konidari, W. Hulme, J. F. Staropoli, W. Xin, G. Y. Wen, R. Barone, S. H. Coppel, K. Sims, W. T. Brown, and S. Zuchner, “Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.,” PLoS ONE, vol. 7, no. 1, pp. e29729–e29729, Jan. 2012.

ANKRD11

A. Sirmaci, M. Spiliopoulos, F. Brancati, E. Powell, D. Duman, A. Abrams, G. Bademci, E. Agolini, S. Guo, B. Konuk, A. Kavaz, S. Blanton, M. C. Digilio, B. Dallapiccola, J. Young, S. Zuchner, and M. Tekin, “Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.,” Am. J. Hum. Genet., vol. 89, no. 2, pp. 289–294, Aug. 2011.

WHEN CITING GENESIS USE:

M. Gonzalez, M. J. Falk, X. Gai, R. Postrel, R. Schüle, and S. Zuchner, “Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform.,” Hum. Mutat., vol. 36, no. 10, pp. 950–956, Oct. 2015.