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Page 1
Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ. Lessel D, et al. Among authors: telegrafi a. Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. Nat Commun. 2020. PMID: 33199684 Free PMC article.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: telegrafi a. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: telegrafi a. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: telegrafi a. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: telegrafi a. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: telegrafi a. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: telegrafi a. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. Among authors: telegrafi a. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. Tanaka AJ, et al. Among authors: telegrafi a. Cold Spring Harb Mol Case Stud. 2016 Jan;2(1):a000661. doi: 10.1101/mcs.a000661. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148580 Free PMC article.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Among authors: telegrafi a. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281
45 results