日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Polygenic and developmental profiles of autism differ by age at diagnosis

自闭症的多基因和发育特征因诊断年龄而异。

Zhang, Xinhe; Grove, Jakob; Gu, Yuanjun; Buus, Cornelia K; Nielsen, Lea K; Neufeld, Sharon A S; Koko, Mahmoud; Malawsky, Daniel S; Wade, Emma M; Verhoef, Ellen; Gui, Anna; Hegemann, Laura; Geschwind, Daniel H; Wray, Naomi R; Havdahl, Alexandra; Ronald, Angelica; St Pourcain, Beate; Robinson, Elise B; Bourgeron, Thomas; Baron-Cohen, Simon; Børglum, Anders D; Martin, Hilary C; Warrier, Varun

Contribution of autosomal rare and de novo variants to sex differences in autism

常染色体罕见变异和新发变异对自闭症性别差异的贡献

Koko, Mahmoud; Satterstrom, F Kyle; Warrier, Varun; Martin, Hilary

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus

自闭症相关基因的空间转录组图谱揭示了人类丘脑发育过程中的趋同现象

Aivazidis, Alexander; Memi, Fani; Rademaker, Koen; Koko, Mahmoud; Roberts, Kenny; Trinh, Andrew; Petryszak, Robert; Kleshchevnikov, Vitalii; Tuck, Liz; Lisgo, Steven; Li, Tong; Makarchuk, Stanislaw; Prete, Martin; Nowakowski, Tomasz J; Martin, Hilary C; Bayraktar, Omer Ali

Polygenic and developmental profiles of autism differ by age at diagnosis

自闭症的多基因和发育特征因诊断年龄而异。

Zhang, Xinhe; Grove, Jakob; Gu, Yuanjun; Buus, Cornelia K; Nielsen, Lea K; Neufeld, Sharon A S; Koko, Mahmoud; Malawsky, Daniel S; Wade, Emma M; Verhoef, Ellen; Gui, Anna; Hegemann, Laura; Geschwind, Daniel H; Wray, Naomi R; Havdahl, Alexandra; Ronald, Angelica; St Pourcain, Beate; Robinson, Elise B; Bourgeron, Thomas; Baron-Cohen, Simon; Børglum, Anders D; Martin, Hilary C; Warrier, Varun

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

PRRT2双等位基因变异可能使人易患自限性家族性婴儿癫痫

Koko, Mahmoud; Elseed, Maha A; Mohammed, Inaam N; Hamed, Ahlam A; Abd Allah, Amal S I; Yahia, Ashraf; Siddig, Rayan A; Altmüller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O; Amin, Mutaz; Ahmed, Elhami A; Eltazi, Isra Z M; Elmugadam, Fatima A; Abdelgadir, Wasma A; Eltaraifee, Esraa; Ibrahim, Mohamed O M; Ali, Nabila M H; Malik, Hiba M; Babai, Arwa M; Bakhit, Yousuf H; Nürnberg, Peter; Ibrahim, Muntaser E; Salih, Mustafa A; Schubert, Julian; Elsayed, Liena E O; Lerche, Holger

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes

ATP8A2 ATPase结构域中一种新的错义变异及其导致的ATP8A2相关疾病表型变异的综述

Flannery, Kyle P; Safwat, Sylvia; Matsell, Eli; Battula, Namarata; Hamed, Ahlam A A; Mohamed, Inaam N; Elseed, Maha A; Koko, Mahmoud; Abubaker, Rayan; Abozar, Fatima; Elsayed, Liena E O; Bhise, Vikram; Molday, Robert S; Salih, Mustafa A; Yahia, Ashraf; Manzini, M Chiara

Contribution of autosomal rare and de novo variants to sex differences in autism

常染色体罕见变异和新发变异对自闭症性别差异的贡献

Koko, Mahmoud; Kyle Satterstrom, F; Warrier, Varun; Martin, Hilary

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes

ATP8A2 ATPase结构域中一种新的错义变异及其导致的ATP8A2相关疾病表型变异的综述

Flannery, Kyle P; Safwat, Sylvia; Matsell, Eli; Battula, Namarata; Hamed, Ahlam A A; Mohamed, Inaam N; Elseed, Maha A; Koko, Mahmoud; Abubaker, Rayan; Abozar, Fatima; Elsayed, Liena E O; Bhise, Vikram; Molday, Robert S; Salih, Mustafa A; Yahia, Ashraf; Manzini, M Chiara

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

苏丹一个家族中的马查多-约瑟夫病将东非与葡萄牙家族联系起来,并使得重新估计马查多家族的祖先年龄成为可能。

Martins, Sandra; Yahia, Ashraf; Costa, Inês P D; Siddig, Hassab E; Abubaker, Rayan; Koko, Mahmoud; Corral-Juan, Marc; Matilla-Dueñas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P W; Amorim, António; Elsayed, Liena E O; Stevanin, Giovanni; Sequeiros, Jorge