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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: du h. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. PMID: 38405817 Free PMC article. Preprint.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Mitani T, et al. Among authors: du h. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630790 Free PMC article.
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Marafi D, et al. Among authors: du h. Ann Clin Transl Neurol. 2020 May;7(5):610-627. doi: 10.1002/acn3.51003. Epub 2020 Apr 14. Ann Clin Transl Neurol. 2020. PMID: 32286009 Free PMC article.
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Saad AK, et al. Among authors: du h. Brain. 2020 Oct 1;143(10):e83. doi: 10.1093/brain/awaa256. Brain. 2020. PMID: 33011761 Free PMC article. No abstract available.
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR. Saad AK, et al. Among authors: du h. Am J Med Genet A. 2021 Apr;185(4):1288-1293. doi: 10.1002/ajmg.a.62100. Epub 2021 Feb 5. Am J Med Genet A. 2021. PMID: 33544954 Free PMC article.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. Duan R, et al. Among authors: du h. Am J Med Genet A. 2021 Jul;185(7):1972-1980. doi: 10.1002/ajmg.a.62192. Epub 2021 Apr 2. Am J Med Genet A. 2021. PMID: 33797191 Free PMC article.
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Calame DG, et al. Among authors: du h. Neurol Genet. 2021 Apr 26;7(3):e589. doi: 10.1212/NXG.0000000000000589. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 33977145 Free PMC article.
Risk of sudden cardiac death in EXOSC5-related disease.
Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, Coban-Akdemir Z, Milewicz DM, Gibbs RA, Posey JE, Marafi D, Hunter JV, Fan Y, Lupski JR, Miyake CY. Calame DG, et al. Among authors: du h. Am J Med Genet A. 2021 Aug;185(8):2532-2540. doi: 10.1002/ajmg.a.62352. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34089229 Free PMC article.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Among authors: du h. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670 Free PMC article.
7,281 results