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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model

琥珀酸补充剂可改善BCARD综合征模型中由PLOD3突变引起的肌肉骨骼缺陷

Choudhary, Dharmendra; Unlu, Gokhan; Nagai, Taylor H; Melville, David B; Scalici, Alexandra; Hashem, Mais O; Ritter, Dylan J; Schmidt, Georg; Guthrie, Cory L; Gamazon, Eric R; Alkuraya, Fowzan S; Cox, Nancy J; Knapik, Ela W

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK基因突变与神经发育障碍有关

Alabdi Lama, Altuwaijri Norah, Zhu Jun-Yi, Efthymiou Stephanie, Lee Hangnoh, Duan Jianli, Salem Israa, Yu Piao, Abdullah Nor Linda, Alzahrani Fatema, Xu Qing, Felemban Mashael M, Alfaifi Abdullah, Rahman Fatima, Christoforou Marilena, Maqbool Shazia, Martinez-Agosto Julian A, Alsaif Hessa S, Hashem Mais, Helaby Rana, Alsulaiman Ahood, Maroofian Reza, Houlden Henry, Arold Stefan T, Ibrahim Leena A, Han Zhe, Alkuraya Fowzan S

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

GTF3C3基因的双等位基因变异会导致一种常染色体隐性遗传疾病,并伴有智力障碍。

De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Ying; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

近亲结婚家族中脑瘫患者的隐性基因组和表型变异

Bisarad, Pritha; Wang, Yung-Chun; Skidmore, Peter T; Galaz-Montoya, Carolina I; Lewis, Sara A; Alhaddad, Bader; Kong, Nahyun; Julian, Dominic; Magee, Helen; Kruer, Tyler N; Xie, Yuhan; Zheng, Wangjie; Li, Boyang; Rajabpour, Fatemeh V; Liu, James; Revanur, Anjali; Bakur, Khadijah; Firouzabadi, Saghar Ghasemi; Sharbatkhori, Sarina; Tafakhori, Abbas; Taghiabadi, Ehsan; Nezaminargabad, Ermia; Vosoogh, Shohreh; Jamshidi, Javad; Arefnia, Serajaddin; Hosseini, Seyed Ahmad; Khajehmirzaei, Alireza; Jamali, Faezeh; Ahmadifard, Azadeh; Khodadadi, Hamidreza; Daneshmand, Parvaneh; Bohlega, Saeed; Maddirevula, Sateesh; Nadeef, Seba Saleh; Hashem, Mais O; Salih, Mustafa A; Mohmed, Inaam N; Sticht, Heinrich; Morias, Sara Peres; Damásio, Joana; Santos, Mariana; Loureiro, José Leal; Rodrigues, Rita; Stevanin, Giovanni; Benkirane, Mehdi; Dauriat, Benjamin; Head, Nicholas; Baptista, Júlia; Shahhosseini, Saeid; Mohammad, Farhan; Zhao, Hongyu; Padilla-Lopez, Sergio; Alkuraya, Fowzan; Bakhtiari, Somayeh; Kruer, Michael C; Jin, Sheng Chih; Darvish, Hossein

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder

进一步阐明ALDH1L2相关神经发育障碍的表型和代谢组学特征

You, Mikyoung; Shamseldin, Hanan E; Fogle, Halle M; Rushing, Blake R; AlMalki, Reem H; Jaafar, Amal; Hashem, Mais; Abdulwahab, Firdous; Abdel Rahman, Anas M; Krupenko, Natalia I; Alkuraya, Fowzan S; Krupenko, Sergey A

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

多基因评分在阿拉伯人心血管代谢疾病中的临床应用价值

Shim, Injeong; Kuwahara, Hiroyuki; Chen, NingNing; Hashem, Mais O; AlAbdi, Lama; Abouelhoda, Mohamed; Won, Hong-Hee; Natarajan, Pradeep; Ellinor, Patrick T; Khera, Amit V; Gao, Xin; Alkuraya, Fowzan S; Fahed, Akl C