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Page 1
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gu… See abstract for full author list ➔ Chen S, et al. Among authors: raynes hr. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8. PMID: 36865150 Free PMC article. Updated. Preprint.
Epilepsy surgery in patients with autism.
Kokoszka MA, McGoldrick PE, La Vega-Talbott M, Raynes H, Palmese CA, Wolf SM, Harden CL, Ghatan S. Kokoszka MA, et al. Among authors: raynes h. J Neurosurg Pediatr. 2017 Feb;19(2):196-207. doi: 10.3171/2016.7.PEDS1651. Epub 2016 Nov 25. J Neurosurg Pediatr. 2017. PMID: 27885946
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P,… See abstract for full author list ➔ Travaglini L, et al. Among authors: raynes h. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Fatal cerebral infarct in a child with COVID-19.
Kihira S, Morgenstern PF, Raynes H, Naidich TP, Belani P. Kihira S, et al. Among authors: raynes h. Pediatr Radiol. 2020 Sep;50(10):1479-1480. doi: 10.1007/s00247-020-04779-x. Epub 2020 Jul 23. Pediatr Radiol. 2020. PMID: 32705305 Free PMC article. No abstract available.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. Lee JE, et al. Among authors: raynes hr. Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078. Nat Genet. 2012. PMID: 22246503 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
15 results