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Page 1
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: helbig kl, helbig i. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: helbig kl. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Among authors: helbig kl, helbig i. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium. Amos JS, et al. Among authors: helbig kl. Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. Epub 2016 May 24. Clin Genet. 2017. PMID: 27102954
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: helbig kl, helbig i. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: helbig kl, helbig i. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Hardies K, et al. Among authors: helbig kl, helbig i. Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19. Brain. 2016. PMID: 27435091 Free PMC article.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Among authors: helbig kl. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513193 Free PMC article.
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