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

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

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学:一项纳入2700名患者的多中心研究的经验教训

Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A; Mushiba, Aziza M; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

JPH1基因功能缺失变异会导致先天性肌病,并伴有明显的面部和眼部症状。

Johari, Mridul; Topf, Ana; Folland, Chiara; Duff, Jennifer; Dofash, Lein; Marti, Pilar; Robertson, Thomas; Vilchez, Juan; Cairns, Anita; Harris, Elizabeth; Marini-Bettolo, Chiara; Hundallah, Khalid; Alhashem, Amal M; Al-Owain, Mohammed; Maroofian, Reza; Ravenscroft, Gianina; Straub, Volker

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Lunapark 缺乏会导致常染色体隐性遗传的神经发育表型,其特征为退行性病变、癫痫和明显的脑部异常。

Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian G E L; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, P Y Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud Y; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

在一种具有胆道、肾脏、神经和骨骼表现的新型复杂纤毛病综合征中鉴定出TTC26剪接变异体

Alfadhel, Majid; Umair, Muhammad; Almuzzaini, Bader; Asiri, Abdulaziz; Al Tuwaijri, Abeer; Alhamoudi, Khaloud; Alyafee, Yusra; Al-Owain, Mohammed

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

SMG8基因中的隐性有害变异扩大了无义介导衰变在人类发育障碍中的作用

Alzahrani, Fatema; Kuwahara, Hiroyuki; Long, Yongkang; Al-Owain, Mohammed; Tohary, Mohamed; AlSayed, Moeenaldeen; Mahnashi, Mohammed; Fathi, Lana; Alnemer, Maha; Al-Hamed, Mohamed H; Lemire, Gabrielle; Boycott, Kym M; Hashem, Mais; Han, Wenkai; Al-Maawali, Almundher; Al Mahrizi, Feisal; Al-Thihli, Khalid; Gao, Xin; Alkuraya, Fowzan S

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

鉴定导致中度至重度进行性非综合征性听力损失的新型CDH23变异体

Ramzan, Khushnooda; Al-Numair, Nouf S; Al-Ageel, Sarah; Elbaik, Lina; Sakati, Nadia; Al-Hazzaa, Selwa A F; Al-Owain, Mohammed; Imtiaz, Faiqa

Genomic and phenotypic delineation of congenital microcephaly

先天性小头畸形的基因组和表型特征

Shaheen, Ranad; Maddirevula, Sateesh; Ewida, Nour; Alsahli, Saud; Abdel-Salam, Ghada M H; Zaki, Maha S; Tala, Saeed Al; Alhashem, Amal; Softah, Ameen; Al-Owain, Mohammed; Alazami, Anas M; Abadel, Basma; Patel, Nisha; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Hamad, Muddathir; Tabarki, Brahim; Alwadei, Ali H; Alhazzani, Fahad; Bashiri, Fahad A; Kentab, Amal; Şahintürk, Serdar; Sherr, Elliott; Fregeau, Brieana; Sogati, Samira; Alshahwan, Saad Ali M; Alkhalifi, Salwa; Alhumaidi, Zainab; Temtamy, Samia; Aglan, Mona; Otaify, Ghada; Girisha, Katta M; Tulbah, Maha; Seidahmed, Mohammed Zain; Salih, Mustafa A; Abouelhoda, Mohamed; Momin, Afaque A; Saffar, Muna Al; Partlow, Jennifer N; Arold, Stefan T; Faqeih, Eissa; Walsh, Christopher; Alkuraya, Fowzan S

Autozygome and high throughput confirmation of disease genes candidacy

纯合子和高通量疾病基因候选确认

Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A; Kayyali, Husam R; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I; Balobaid, Ameera; El Khashab, Heba Y; Bubshait, Dalal K; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; Qari, Alya; Al Tala, Saeed M; Alhomaidi, Suzan; Kentab, Amal Y; Salih, Mustafa A; Chedrawi, Aziza; Alameer, Seham; Tabarki, Brahim; Shamseldin, Hanan E; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous; Samira, Menasria; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; AlShahwan, Saad; Alfadhel, Majid; Ben-Omran, Tawfeg; Al-Qattan, Mohammad M; Monies, Dorota; Alkuraya, Fowzan S