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Page 1
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: barakat ts. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA. Nabais Sá MJ, et al. Among authors: barakat ts. Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28. Genet Med. 2020. PMID: 31776469 Free article.
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.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Perenthaler E, et al. Among authors: barakat ts. Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9. Acta Neuropathol. 2020. PMID: 31820119 Free PMC article.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Among authors: barakat ts. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. Oegema R, et al. Among authors: barakat ts. Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7. Nat Rev Neurol. 2020. PMID: 32895508 Free PMC article. Review.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. Barish S, et al. Among authors: barakat ts. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232675 Free PMC article.
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers DMEI, van Slegtenhorst M, Ruijter G, Barakat TS. Eleftheriadou M, et al. Among authors: barakat ts. Mol Genet Genomic Med. 2021 Feb;9(2):e1595. doi: 10.1002/mgg3.1595. Epub 2021 Jan 11. Mol Genet Genomic Med. 2021. PMID: 33432785 Free PMC article.
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Among authors: barakat ts. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: barakat ts. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Sanderson LE, et al. Among authors: barakat ts. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. Brain. 2021. PMID: 33764426 Free PMC article.
81 results