Search Results - "exome sequencing"

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing by Danya Salah Baz, Dareen Baz, Fawzah Alrwuili, Abdullah Aldowaish, Hanan E. Shamseldin, Ayman Elhomoudi, Fowzan S. Alkuraya

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Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies by Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong

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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant by Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello, on behalf of their respective Scientific Societies

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Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes by Daniela ADORNO-FARIAS, Jean Nunes dos SANTOS, Wilfredo GONZÁLEZ-ARRIAGADA, Sandra TARQUINIO, Rodrigo Alberto SANTIBÁÑEZ PALOMINOS, Alberto Jesus MARTÍN MARTÍN, Ricardo FERNANDEZ-RAMIRES

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Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract by Meredith Harris, Meredith Harris, Meredith P. Schuh, Meredith P. Schuh, David McKinney, Kenneth Kaufman, Elif Erkan, Elif Erkan

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Aggressive Periodontitis: A case report with exome sequencing and functional characterization of identified variant by Waheed Awotoye, Patricia Ayanbadejo, Steven Eliason, Kehinde Umeizudike, Ayodele Ogundana, Dan Su, Tadkamol Krongbaramee, Emmanuel Aladenika, Azeez Alade, Abimbola Oladayo, Abdul-Warith Akinshipo, Tamara Busch, Wasiu Adeyemo, Brad Amendt, Azeez Butali

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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism by Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim

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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management by Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee

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Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility by Xing Zhang, Ying Sun, Lijuan Meng, Caixia Ye, Huifeng Han, Tiesong Zhang, Yue Feng, Jianxiao Li, Lifen Duan, Yanfei Chen

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Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention by Hongli Liu, Xiaoli Wei, Yanwei Sha, Wensheng Liu, Haijie Gao, Jin Lin, Youzhu Li, Yaling Tang, Yifeng Wang, Yanlong Wang, Zhiying Su

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Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature by Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng

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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health by Audrey C. Woerner, Renata C. Gallagher, Jerry Vockley, Jerry Vockley, Aashish N. Adhikari, Aashish N. Adhikari

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Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing by Mojgan ATAEI-KACHOUEI, Javad NADAF, Mohammad Taghi AKBARI, Morteza ATRI, Jacek MAJEWSKI, Yasser RIAZALHOSSEINI, Masoud GARSHASBI

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Bohring-Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing by Ching-Ming Lin, Chien-Ming Lin, Sheng-Yuan Ho

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Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis by Liu L, Chen J, Li J, Yang Y, Zeng X, Tian X

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Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family by Zhuoqing Hu, Wei Li, Miaosheng Li, Hao Wei, Zhihui Hu, Yanting Chen, Ai Luo, Wangen Li

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Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers by Mahjoubeh Jalali-, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

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Strategies for whole-exome sequencing analysis in a case series study of familial male infertility by Masomeh Askari, Dor Mohammad Kordi Tamandani, Navid Almadani, Mehdi Totonch

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families by Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baig

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