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Page 1
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: bryant e. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Genetic heterogeneity, Down syndrome, and Alzheimer disease.
Schellenberg GD, Kamino K, Bryant EM, Moore D, Bird TD. Schellenberg GD, et al. Among authors: bryant em. Prog Clin Biol Res. 1992;379:215-26. Prog Clin Biol Res. 1992. PMID: 1409746 Review. No abstract available.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Shaheen R, Mark P, Prevost CT, AlKindi A, Alhag A, Estwani F, Al-Sheddi T, Alobeid E, Alenazi MM, Ewida N, Ibrahim N, Hashem M, Abdulwahab F, Bryant EM, Spinelli E, Millichap J, Barnett SS, Kearney HM, Accogli A, Scala M, Capra V, Nigro V, Fu D, Alkuraya FS. Shaheen R, et al. Among authors: bryant em. Hum Mutat. 2019 Nov;40(11):2108-2120. doi: 10.1002/humu.23870. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31301155
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: bryant e. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Among authors: bryant e. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R. Zhang Y, et al. Among authors: bryant e. Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192. Hum Mol Genet. 2021. PMID: 34245260 Free PMC article.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Wei AD, et al. Among authors: bryant e. J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. J Neurophysiol. 2022. PMID: 35583973 Free PMC article.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. Calhoun JD, et al. Among authors: bryant e. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Brain. 2022. PMID: 35773235 Free PMC article.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. Singh S, et al. Among authors: bryant em. Genet Med. 2020 Aug;22(8):1413-1417. doi: 10.1038/s41436-020-0815-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366965 Free PMC article.
360 results