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Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report 长读测序鉴定出在患有科芬-西里斯综合征8型的儿科患者中的一种新型新生倒位突变位于SMARCC2基因：病例报告 Ibrahim, Amal Abdulsalam; Aamer, Waleed; Aliyev, Elbay; Al-Maraghi, Aljazi; Elhag, Saba F.; Abdi, Mona; Syed, Najeeb; Palaniswamy, Sasirekha; Akil, Ammira S. A.; Kamal, Madeeha; Fakhro, Khalid A. 分享 收藏
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia Riera-Escamilla, A.; Arafa, M.M.; Farnetani, G.; Xavier, M.J.; Oud, M.S.; Majzoub, A.A.; Ramos, L.; Abrardo, C.; Spinelli, M.; Moreno-Mendoza, D.; 等. 非梗阻性无精子症患者睾丸精子提取术结局的遗传决定因素：一项大型多中心研究的见解。Hum. Reprod. Open 2025, 2025, hoaf049. [Google Scholar] [CrossRef] Antoni Riera-Escamilla; Mohamed M Arafa; Ginevra Farnetani; Miguel J Xavier; Manon S Oud; Ahmad A Majzoub; Liliana Ramos; Chiara Abrardo; Matilde Spinelli; Daniel Moreno-Mendoza; Giuseppe Defazio; Elisabet Ars; Marc Pybus; Josvany R Sánchez Curbelo; Haitham T Elbardisi; Shoaib Nawaz; Najeeb Syed; Eduard Ruiz-Castané; Godfried W van der Heijden; Khalid A Fakhro; Joris A Veltman; Csilla Krausz 分享 收藏
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Syed, Najeeb; Vempalli, Fazulur Rehaman; Saad, Chadi; Mbarek, Hamdi; Al-Saei, Omayma; Al-Maraghi, Aljazi; Abdi, Mona; Krishnamoorthy, Navaneethakrishnan; Badii, Ramin; Qatar Genome Program Res Consortium, Ammira A.; Akil, Ammira A.; Ben-Omran, Tawfeg; Fakhro, Khalid A. 分享 收藏
Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy 炎性乳腺癌的全外显子组特征和新辅助化疗的病理反应 Bertucci, Francois; Guille, Arnaud; Lerebours, Florence; Ceccarelli, Michele; Syed, Najeeb; Adelaide, Jose; Finetti, Pascal; Ueno, Naoto T.; Van Laere, Steven; Viens, Patrice; De Nonneville, Alexandre; Goncalves, Anthony; Birnbaum, Daniel; Callens, Celine; Bedognetti, Davide; Mamessier, Emilie 分享 收藏
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort 先天性低促性腺激素性性腺功能减退症的遗传结构: 来自葡萄牙队列分析的见解 Carrico, Josianne Nunes; Goncalves, Catarina Ines; Al-Naama, Asma; Syed, Najeeb; Aragues, Jose Maria; Bastos, Margarida; Fonseca, Fernando; Borges, Teresa; Pereira, Bernardo Dias; Pignatelli, Duarte; Carvalho, Davide; Cunha, Filipe; Saavedra, Ana; Rodrigues, Elisabete; Saraiva, Joana; Ruas, Luisa; Vicente, Nuno; Martins, Joao Martin; De Sousa Lages, Adriana; Oliveira, Maria Joao; Castro-Correia, Cintia; Melo, Miguel; Martins, Raquel Gomes; Couto, Joana; Moreno, Carolina; Martins, Diana; Oliveira, Patricia; Martins, Teresa; Martins, Sofia Almeida; Marques, Olinda; Meireles, Carla; Garrao, Antonio; Nogueira, Claudia; Baptista, Carla; Gama-de-Sousa, Susana; Amaral, Claudia; Martinho, Mariana; Limbert, Catarina; Barros, Luisa; Vieira, Ines Henriques; Sabino, Teresa; Saraiva, Luis R.; Lemos, Manuel Carlos 分享 收藏
Mutational landscape of inflammatory breast cancer 炎性乳腺癌的突变景观 Bertucci, Francois; Lerebours, Florence; Ceccarelli, Michele; Guille, Arnaud; Syed, Najeeb; Finetti, Pascal; Adelaide, Jose; Van Laere, Steven; Goncalves, Anthony; Viens, Patrice; Birnbaum, Daniel; Mamessier, Emilie; Callens, Celine; Bedognetti, Davide 分享 收藏
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Transcription factor combinations that define human astrocyte identity encode significant variation of maturity and function Baranes, Koby; Hastings, Nataly; Rahman, Saifur; Poulin, Noah; Tavares, Joana M.; Kuan, Wei-Li; Syed, Najeeb; Kunz, Meik; Blighe, Kevin; Belgard, T. Grant; Kotter, Mark R. N. 分享 收藏
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk 多血统全基因组关联分析可改善影响肺功能和慢性阻塞性肺疾病风险的基因和通路的分辨率 Shrine, Nick; Izquierdo, Abril G.; Chen, Jing; Packer, Richard; Hall, Robert J.; Guyatt, Anna L.; Batini, Chiara; Thompson, Rebecca J.; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D.; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per; Fawcett, Katherine A.; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y.; Chen, Zhengming; Li, Liming; Wijnant, Sara R. A.; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G.; Manichaikul, Ani; Oelsner, Elizabeth C.; Rich, Stephen S.; Barr, R. Graham; Kerr, Shona M.; Vitart, Veronique; Brown, Michael R.; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M.; Gharib, Sina A.; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E.; Meyers, Deborah A.; Bleecker, Eugene R.; Gabriel, Stacey B.; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian'an; Zhao, Jing-Hua; Hansen, Ailin F.; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H.; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L.; Yu, Bing; Lim, Elise; Xu, Hanfei; O'Connor, George T.; Thareja, Gaurav; Albagha, Omar M. E.; Ismail, Said I.; Al-Muftah, Wadha; Badji, Radja; Mbarek, Hamdi; Darwish, Dima; Fadl, Tasnim; Yasin, Heba; Ennaifar, Maryem; Abdellatif, Rania; Alkuwari, Fatima; Alvi, Muhammad; Al-Sarraj, Yasser; Saad, Chadi; Althani, Asmaa; Fethnou, Eleni; Qafoud, Fatima; Alkhayat, Eiman; Afifi, Nahla; Tomei, Sara; Liu, Wei; Lorenz, Stephan; Syed, Najeeb; Almabrazi, Hakeem; Vempalli, Fazulur Rehaman; Temanni, Ramzi; Abu Saqri, Tariq; Khatib, Mohammedhusen; Hamza, Mehshad; Abu Zaid, Tariq; El Khouly, Ahmed; Pathare, Tushar; Poolat, Shafeeq; Al-Ali, Rashid; Al-Khodor, Souhaila; Alshafai, Mashael; Badii, Ramin; Chouchane, Lotfi; Estivill, Xavier; Fakhro, Khalid; Mokrab, Younes; Puthen, Jithesh, V; Tatari, Zohreh; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O.; Hiemstra, Pieter S.; Slats, Annelies M.; Mullin, Benjamin H.; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T.; Wyss, Annah B.; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A.; Joshi, Peter K.; Timmers, Paul R. H. J.; Williams, Alexander T.; Free, Robert C.; Wang, Xueyang; Morrison, John L.; Gilliland, Frank D.; Chen, Zhanghua; Wang, Carol A.; Foong, Rachel E.; Harris, Sarah E.; Taylor, Adele; Redmond, Paul; Cook, James P.; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimaki, Terho; Raitakari, Olli T.; Kaprio, Jaakko; Rantanen, Taina; Pietilainen, Kirsi H.; Cox, Simon R.; Pennell, Craig E.; Hall, Graham L.; Gauderman, W. James; Brightling, Chris; Wilson, James F.; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O.; Timpson, Nicholas J.; Zeggini, Eleftheria; Dupuis, Josee; Hayward, Caroline; Brumpton, Ben; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C.; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L.; Dudbridge, Frank; Silverman, Edwin K.; Strachan, David P.; Walters, Robin G.; Morris, Andrew P.; London, Stephanie J.; Cho, Michael H.; Wain, Louise, V; Hall, Ian P.; Tobin, Martin 分享 收藏
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank Gandhi, Geethanjali Devadoss; Aamer, Waleed; Krishnamoorthy, Navaneethakrishnan; Syed, Najeeb; Aliyev, Elbay; Al-Maraghi, Aljazi; Kohailan, Muhammad; Alenbawi, Jamil; Elanbari, Mohammed; Mifsud, Borbala; Mokrab, Younes; Khalil, Charbel Abi; Fakhro, Khalid A. 分享 收藏
Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome 了解GLUT2在fanconi-bickel综合征相关血糖异常中的作用 Sharari, Sanaa; Kabeer, Basirudeen; Mohammed, Idris; Haris, Basma; Pavlovski, Igor; Hawari, Iman; Bhat, Ajaz Ahmad; Toufiq, Mohammed; Tomei, Sara; Mathew, Rebecca; Syed, Najeeb; Nisar, Sabah; Maacha, Selma; Grivel, Jean-Charles; Chaussabel, Damien; Ericsson, Johan; Hussain, Khalid 分享 收藏
Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient 了解fanconi-bickel综合征患者的血糖异常机制 Sharari, Sanaa; Aouida, Mustapha; Mohammed, Idris; Haris, Basma; Bhat, Ajaz Ahmad; Hawari, Iman; Nisar, Sabah; Pavlovski, Igor; Biswas, Kabir H.; Syed, Najeeb; Maacha, Selma; Grivel, Jean-Charles; Saifaldeen, Maryam; Ericsson, Johan; Hussain, Khalid 分享 收藏
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Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar Haris, Basma; Ahmed, Ikhlak; Syed, Najeeb; Almabrazi, Hakeem; Saraswathi, Saras; Al-Khawaga, Sara; Saeed, Amira; Mundekkadan, Shihab; Mohammed, Idris; Sharari, Sanaa; Hawari, Iman; Hamed, Noor; Afyouni, Houda; Abdel-Karim, Tasneem; Mohammed, Shayma; Khalifa, Amel; Al-Maadheed, Maryam; Zyoud, Mahmoud; Shamekh, Ahmed; Elawwa, Ahmed; Karim, Mohammed Y.; Al-Khalaf, Fawziya; Tatari-Calderone, Zohreh; Petrovski, Goran; Hussain, Khalid 分享 收藏
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Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder Yadav, Santosh K.; Bhat, Ajaz A.; Hashem, Sheema; Nisar, Sabah; Kamal, Madeeha; Syed, Najeeb; Temanni, Mohamed-Ramzi; Gupta, Rakesh K.; Kamran, Saddat; Azeem, Muhammad Waqar; Srivastava, Amit K.; Bagga, Puneet; Chawla, Sanjeev; Reddy, Ravinder; Frenneaux, Michael P.; Fakhro, Khalid; Haris, Mohammad 分享 收藏
Germline genetic contribution to the immune landscape of cancer Sayaman, Rosalyn W.; Saad, Mohamad; Thorsson, Vesteinn; Hu, Donglei; Hendrickx, Wouter; Roelands, Jessica; Porta-Pardo, Eduard; Mokrab, Younes; Farshidfar, Farshad; Kirchhoff, Tomas; Sweis, Randy F.; Bathe, Oliver F.; Heimann, Carolina; Campbell, Michael J.; Stretch, Cynthia; Huntsman, Scott; Graff, Rebecca E.; Syed, Najeeb; Radvanyi, Laszlo; Shelley, Simon; Wolf, Denise; Marincola, Francesco M.; Ceccarelli, Michele; Galon, Jerome; Ziv, Elad; Bedognetti, Davide 分享 收藏
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Association of genes with phenotype in autism spectrum disorder Nisar, Sabah; Hashem, Sheema; Bhat, Ajaz A.; Syed, Najeeb; Yadav, Santosh; Azeem, Muhammad Waqar; Uddin, Shahab; Bagga, Puneet; Reddy, Ravinder; Haris, Mohammad 分享 收藏
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