Publications

Export 16 results:
Filters: Keyword is Seizures  [Clear All Filters]
2023
Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SMohammad, Mohammadi SAhmad, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 ;31(8):905-917.
2022
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Madhi AAl, Al-Seood HMAbou, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
2021
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 ;185(5):1388-1398.
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 LAlberto, 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, J Merritt L, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TMihalic, 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, J Hamm A, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZghal, Alders M, Kerkhof J, McConkey H, Haghshenas S, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TStefan. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
Wong HHui, Seet SHwee, Maier M, Gurel A, Traspas RMoreno, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TShin, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Men DUğurlu Ç, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NAin, Choo SChin, Keng SSok, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TThao Nguye, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GTaj, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova J-L, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
2020
Liu J, Ding G, Zou K, Jiang Z, Zhang J, Lu Y, Pignata A, Venner E, Liu P, Liu Z, Wangler MF, Sun Z. Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 2020 ;8(3):e1130.
Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med. 2020 ;22(11):1863-1873.
Gunning AC, Strucinska K, Oreja MMuñoz, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Pelayo UFernandez, Jones AWE, Taylor RW, Misra VK, Yoon WHee, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 ;106(2):272-279.
2019
Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, A Innes M, Posey JE, Lupski JR. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 ;6(8):1395-1406.
2018
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
2017
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 ;121(4):314-319.
2014
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 ;16(10):751-8.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AChun-Hui, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong C-T, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
2011
Szabó CA, Kochunov P, Knape KD, McCoy KJM, Leland MM, Lancaster JL, Fox PT, Williams JT, Rogers J. Cortical sulcal areas in baboons (Papio hamadryas spp.) with generalized interictal epileptic discharges on scalp EEG. Epilepsy Res. 2011 ;93(2-3):91-5.
2004
Yan Y, Wang M, Lemon WJ, You M. Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes. J Med Genet. 2004 ;41(9):e111.
1997
Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.