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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network; Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. Mao D, et al. Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197074 Free PMC article.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: calame dg. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Apneic Seizures in a Child with Achondroplasia.
Calame DG, Herman I, Bartlett B, Agurs L, Tran BH, Houck K. Calame DG, et al. Neuropediatrics. 2021 Oct;52(5):415-416. doi: 10.1055/s-0041-1722879. Epub 2021 Feb 12. Neuropediatrics. 2021. PMID: 33578437 No abstract available.
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE; SYNAPS Study Group; Maqbool S, Lupski JR, Houlden H. Efthymiou S, et al. Among authors: calame dg. Am J Med Genet A. 2021 Jul;185(7):2241-2249. doi: 10.1002/ajmg.a.62221. Epub 2021 May 8. Am J Med Genet A. 2021. PMID: 33964184 Free PMC article. No abstract available.
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. 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. 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.
Clinical and Neuroimaging Features of Peroxisomal Disorders.
Herman I, Calame DG. Herman I, et al. Among authors: calame dg. Neuropediatrics. 2022 Feb;53(1):75-77. doi: 10.1055/s-0041-1732312. Epub 2021 Jul 23. Neuropediatrics. 2022. PMID: 34298577 No abstract available.
56 results