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Fowzan S. Alkuraya

lifera omics

88H指数
815论文数
2.9W被引数
收录论文 397
发表时间
A Middle East collaborative for undiagnosed diseases中东未诊断疾病合作组织
err2026-09-18
err0
PREAI
errOmer S. Alkhnbashi; Hamad Ali; Almundher Al-Maawali; Naif A. M. Almontashiri; Uğur Özbek; Maha S. Zaki; Mouhammed Ali Ajlouny; Issa Abu-Dayyeh; Rami Abdel-Rahim Mahfouz; Abdullah M. Baghfar; Khalaf Hussein Gargary; Ali M. Batarfi; Barrak Alahmad; Abdullah Alibrahim; Dana Marafi; Hind Alsharhan; Salman Al Sabah; Oktay I. Kaplan; Fatma Al Jasmi; Majid Alfadhel; Bruno Reversade; Hilal A. Lashuel; Khalid Fakhro; Fowzan S. Alkuraya; Fahd Al-Mulla; Alawi Alsheikh-Ali; Ahmad Abou Tayoun
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Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation使用DNA甲基化表征ARID1B相关疾病和意义不明的变异
err2026-07-29
err0
PREAI
errAnthony Chen; Manav Jain; Danielle Baribeau; William T. Gibson; Matthew A. Deardorff; Fowzan S. Alkuraya; Juan Dario Ortigoza-Escobar; Graeme Nimmo; Stephen W. Scherer; Sanaa Choufani; Sarah J. Goodman; Rosanna Weksberg
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An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension一个古老的GDF2奠基者变异体可能引起半显性非综合征性肺动脉高压
err2026-06-17
err0
PREAI
errAbdullah Aldalaan; Seba Nadeef; Ebtissal Khouj; Fayez Alahmadi; Bayan Aljamal; Noura Alturaif; Nadeen Alharbi; Firdous Abdulwahab; Mashael Alqahtani; Fatima Alzubi; Omar Abuyousef; Mais O. Hashem; Hamdiah Zaytoun; Hanadi Alhamoud; Tarfa Alshidi; Amal Jaafar; Lama Alabdi; Fowzan S. Alkuraya
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Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities代谢多基因风险评分用于预测肥胖、2型糖尿病及相关疾病的发生
err2026-03-16
err0
PREAI
errMin Seo Kim; Qiuli Chen; Yang Sui; Xiong Yang; Shaoqi Wang; Lu-Chen Weng; So Mi Jemma Cho; Satoshi Koyama; Xinyu Zhu; Kang Yu; Xingyu Chen; Rufan Zhang; Wanqing Yin; Shuangqiao Liao; Zhaoqi Liu; Fowzan S. Alkuraya; Pradeep Natarajan; Patrick T. Ellinor; Akl C. Fahed; Minxian Wang
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Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model补充琥珀酸可改善BCARD综合征模型中PLOD3突变引起的肌肉骨骼缺陷
err2026-03-13
err0
errOAAI
errDharmendra Choudhary; Gokhan Unlu; Taylor H. Nagai; David B. Melville; Alexandra Scalici; Mais O. Hashem; Dylan J. Ritter; Georg Schmidt; Cory L. Guthrie; Eric R. Gamazon; Fowzan S. Alkuraya; Nancy J. Cox; Ela W. Knapik
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MICU2 controls mitochondrial calcium signaling and migration in neurons during developmentMICU2在发育过程中调控神经元线粒体钙信号和迁移。
err2025-11-20
err0
errOAAI
errElena Berezhnaya; Benjamín Cartes-Saavedra; Raghavendra Singh; Macarena Rodríguez-Prados; Orly Reiner; Fowzan S. Alkuraya; György Hajnóczky
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function致病性UNC13A变异通过损害突触功能导致神经发育综合征
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeHNRNPK特异的DNA甲基化特征解释了错义变异,并扩展了Au-Kline综合征的表型谱。
err2025-08-07
err0
errOAAI
errSanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
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A programmed decline in ribosome levels governs human early neurodevelopment程序性核糖体水平下降调控人类早期神经发育
err2025-08-04
err0
errOAAI
errChunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsHCN2相关神经发育障碍:患者数据和爪蟾细胞模型数据
err2025-06-05
err0
errOAAI
errClara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD
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FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureFBXO22缺乏定义了一种具有生长受限和多系统异常的累及多系统的综合征,其特征是具有独特的表观遗传标志。
err2025-05-01
err0
PREAI
errRamakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation双等位UGGT1变异导致先天性糖基化障碍
err2025-05-01
err1
errOAAI
errDardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL
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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
err2025-04-01
err0
errOAAI
errThomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, 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.
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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationDel-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109
errBrain
IF11.7
err2025-03-22
err0
errOAAI
errJordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin
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Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
err2025-03-01
err0
errOAAI
errHarms, Frederike L.; Mueller, Christian; Kortuem, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S.; Elhossini, Rasha M.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan S.; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M.; Kutsche, Kerstin
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CIROZ is dispensable in ancestral vertebrates but essential for left in humans
err2025-02-01
err0
PREAI
errSzenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno
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Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations小儿胆汁淤积症的大规模基因组研究揭示了由PSKH1突变引起的新型肝肾纤毛病
err2024-11-01
err0
PREAI
errMaddirevula, Sateesh; Shagrani, Mohammad; Ji, Ae-Ri; Horne, Christopher R.; Young, Samuel N.; Mather, Lucy J.; Alqahtani, Mashael; McKerlie, Colin; Wood, Geoffrey; Potter, Paul K.; Abdulwahab, Firdous; AlSheddi, Tarfa; van der Woerd, Wendy L.; van Gassen, Koen L. I.; Albogami, Dalal; Kumar, Kishwer; Akhtar, Ali Syed Muhammad; Binomar, Hiba; Almanea, Hadeel; Faqeih, Eissa; Fuchs, Sabine A.; Scott, John W.; Murphy, James M.; Alkuraya, Fowzan S.
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
err2024-11-01
err0
PREAI
errBarish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurelien; Waberski, Marta Biderman; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Oystein L.; Busk, Oyvind L.; Houlden, Henry; Karimiani, Ehsan Ghayoor; Toosi, Mehran Beiraghi; Badv, Reza Shervin; Torbati, Paria Najarzadeh; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M.; Huang, Kevin; Petree, Cassidy; Calame, Daniel G.; von der Lippe, Charlotte; Alkuraya, Fowzan S.; Wali, Sami; Lupski, James R.; Varshney, Gaurav K.; Posey, Jennifer E.; Pehlivan, Davut
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