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Page 1
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: coban akdemir z. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: coban akdemir z. Genet Med. 2024 Sep 19:101273. doi: 10.1016/j.gim.2024.101273. Online ahead of print. Genet Med. 2024. PMID: 39306721
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z. Bozkurt-Yozgatli T, et al. Among authors: coban akdemir z. BMC Med Genomics. 2024 Aug 7;17(1):201. doi: 10.1186/s12920-024-01968-7. BMC Med Genomics. 2024. PMID: 39113026 Free PMC article. No abstract available.
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Copeland I, et al. Among authors: coban akdemir zh. JCI Insight. 2024 May 8;9(9):e172152. doi: 10.1172/jci.insight.172152. JCI Insight. 2024. PMID: 38716726 Free PMC article.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. Dardas Z, et al. Among authors: coban akdemir z. Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. Genome Med. 2024. PMID: 38570875 Free PMC article.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Kerby C Oberg, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: coban akdemir z. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. Update in: Genet Med. 2024 Sep 19:101273. doi: 10.1016/j.gim.2024.101273 PMID: 38405817 Free PMC article. Updated. Preprint.
Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay.
Kolakada D, Fu R, Biziaev N, Shuvalov A, Lore M, Campbell AE, Cortázar MA, Sajek MP, Hesselberth JR, Mukherjee N, Alkalaeva E, Coban Akdemir ZH, Jagannathan S. Kolakada D, et al. Among authors: coban akdemir zh. bioRxiv [Preprint]. 2024 Nov 10:2024.01.10.575080. doi: 10.1101/2024.01.10.575080. bioRxiv. 2024. PMID: 38260612 Free PMC article. Preprint.
120 results