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

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

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease

结构-活性分析揭示MAPKBP1相关肾病中纤毛-Jun N端激酶信号传导紊乱

Findeisen, Christin; Papazian, Maria; Pöschla, Linda; Ertel, Anastasia; Jin, Wenjun; Panitz, Nydia; Hantmann, Elena; Coucke, Paul; Abdulwahab, Firdous; AlAbdi, Lama; Alkuraya, Fawzan S; Salem, May; Alzaidan, Hamad; Eckardt, Kai-Uwe; Christensen, Søren T; Benmerah, Alexandre; Saunier, Sophie; Halbritter, Jan; Schönauer, Ria

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

NUBP2 缺乏会破坏大脑中的中心体检查点,导致原发性小头畸形

Rushforth, Rebekah; Shamseldin, Hanan E; Costantino, Nicole; Michaels, Jes-Rite; Sawyer, Sarah L; Osmond, Matthew; Kurdi, Wesam; Abdulwahab, Firdous; DiStasio, Andrew; Boycott, Kym M; Alkuraya, Fowzan S; Stottmann, Rolf W

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

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

The clinical utility of rapid exome sequencing in a consanguineous population

快速外显子组测序在近亲结婚人群中的临床应用价值

Monies, Dorota; Goljan, Ewa; Assoum, Mirna; Albreacan, Muna; Binhumaid, Faisal; Subhani, Shazia; Boureggah, Abdulmlik; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Temsah, Mohamad H; Alsohime, Fahad; Kelaher, James; Abouelhoda, Mohamed; Meyer, Brian F; Alkuraya, Fowzan S

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

RHOBTB2相关神经发育障碍的基因型-表型相关性

Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Bakhtiari, Somayeh; Kruer, Michael C; Salih, Mustafa A; Kuechler, Alma; Muller, Eric A; Blocker, Karli; Kuismin, Outi; Park, Kristen L; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M; Abdulwahab, Firdous; Alkuraya, Fowzan S; Khouj, Ebtissal M; Alvi, Javeria R; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

MAN2A2 的纯合截断变异会导致一种新的先天性糖基化障碍,并伴有神经系统受累

Mahajan Sonal, Ng Bobby George, AlAbdi Lama, Earnest Paul Daniel James, Sosicka Paulina, Patel Nisha, Helaby Rana, Abdulwahab Firdous, He Miao, Alkuraya Fowzan S, Freeze Hudson H

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

人类致命变异:从大型分子尸检队列中汲取的经验教训

Shamseldin, Hanan E; AlAbdi, Lama; Maddirevula, Sateesh; Alsaif, Hessa S; Alzahrani, Fatema; Ewida, Nour; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Kuwahara, Hiroyuki; Gao, Xin; Alkuraya, Fowzan S