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

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Ophthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa

与罕见中间交界型大疱性表皮松解症相关的LAMB3基因新突变所致的眼部表型

Alzaben, Khawlah A; Albakri, Amani; Alshabeeb, Rawan S; Almontashiri, Naif; Abu-Amero, Khaled K; Alzendi, Nouf A

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments

先天性遗传性内皮营养不良:分子发病机制、遗传基础和新兴疗法的综述

Jomar, Deema E; Khayyat, Waleed; Almontashiri, Naif A M; Ahmad, Khabir; Hameed, Syed; Al-Swailem, Samar A

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

隐性 PPTC7 缺陷会引发过度线粒体自噬,从而导致严重的先天性代谢缺陷,并伴有髓鞘形成不足的脑白质营养不良。

Kozul Keri-Lyn, AlAsmari Ali, Alharby Essa, Zakzouk Reem, Yan Youmian, Mushiba Aziza, Alhamad Anwar, Harrelson Emily, Ayach Maya, Cho Kevin, Zahid Heba, Vitorino Francisca De Luna, Searfoss Richard, Liu Xingyu, Saleh Mohammed A, Latif Muhammad, Wei Lianjie, Aldawood Ali, Alsuhaibani Laila, Bafail Mohammed Abdulhafith, Menezes Thiago, Samman Manar, Pletcher Hannah, Sandokji Ibrahim, Borhan Walaa, Lochetto Tessa, Alamri Abrar, Mudayfin Wedad, Syed Mazin, Shriver Leah, Garcia Benjamin, Faqeih Eissa, Patti Gary, Niemi Natalie, Almontashiri Naif

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

FBXO22 缺陷是一种多效性综合征,表现为生长受限和多系统异常,并伴有独特的表观遗传特征。

Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

PI4K2A 功能隐性丧失导致发育性和癫痫性运动障碍性脑病,并伴有明显的口舌运动障碍

Maroofian, Reza; Ortigoza-Escobar, Juan Darío; Rohilla, Pooja; Alvi, Javeria Raza; Mushiba, Aziza M; Almontashiri, Naif A M; Efthymiou, Stephanie; Sultan, Tipu; Balla, Tamas; Houlden, Henry

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

ELOVL1双等位基因变异与髓鞘形成不足性脑白质营养不良、运动障碍和鱼鳞病相关。

Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; Thiele, Holger; Nürnberg, Peter; Gräler, Markus H; Houlden, Henry; Huppke, Peter

Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice

视网膜母细胞瘤的遗传学:概述及基因检测在临床实践中的意义

Abu-Amero, Khaled K; Kondkar, Altaf A; Almontashiri, Naif A M; Khan, Abdullah M; Maktabi, Azza M Y; Hameed, Syed; AlMesfer, Saleh