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Mutation detection

The prognostic value of KRAS mutation by cell-free DNA in cancer patients: A systematic review and meta-analysis

Rongyuan Zhuang, Song Li, Qian Li, Xi Guo, Feng Shen, Hong Sun, Tianshu Liu

published 10 Aug 2017

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Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

Ayal B. Gussow, Brett R. Copeland, Ryan S. Dhindsa, Quanli Wang, Slavé Petrovski, William H. Majoros, Andrew S. Allen, David B. Goldstein

published 10 Aug 2017

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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A. Kari, Mohamed A. Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K. Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, on behalf of The PodoNet Consortium

published 10 Aug 2017

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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

Edoardo Giacopuzzi, Massimo Gennarelli, Alessandra Minelli, Rita Gardella, Paolo Valsecchi, Michele Traversa, Cristian Bonvicini, Antonio Vita, Emilio Sacchetti, Chiara Magri

published 07 Aug 2017

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

published 07 Aug 2017

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The effect of immunohistochemically detected p53 accumulation in prognosis of breast cancer; A retrospective survey of outcome

Sanambar Sadighi, Mohammad Zokaasadi, Amir Kasaeian, Somaye Maghsudi, Issa Jahanzad, Hosein Kamranzadeh Fumani

published 03 Aug 2017

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DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, Lenka Radová, Andrea Čechová, Naďa Špačková, Lenka Fajkusová, Kamila Réblová

published 02 Aug 2017

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Versatile ion S5XL sequencer for targeted next generation sequencing of solid tumors in a clinical laboratory

Meenakshi Mehrotra, Dzifa Yawa Duose, Rajesh R. Singh, Bedia A. Barkoh, Jawad Manekia, Michael A. Harmon, Keyur P. Patel, Mark J. Routbort, L. Jeffrey Medeiros, Ignacio I. Wistuba, Rajyalakshmi Luthra

published 02 Aug 2017

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul A. Brogan

published 27 Jul 2017

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Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng

published 24 Jul 2017

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SDHD promoter mutations are rare events in cutaneous melanomas but SDHD protein expression is downregulated in advanced cutaneous melanoma

Helena Pópulo, Rui Batista, Cristina Sampaio, Joana Pardal, José Manuel Lopes, Paula Soares

published 29 Jun 2017

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Genetic basis of calcifying cystic odontogenic tumors

Akane Yukimori, Yu Oikawa, Kei-ichi Morita, Chi Thi Kim Nguyen, Hiroyuki Harada, Satoshi Yamaguchi, Kou Kayamori, Akira Yamaguchi, Tohru Ikeda, Kei Sakamoto

published 28 Jun 2017

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Evaluation of molecular diagnostic approaches for the detection of BRAF p.V600E mutations in papillary thyroid cancer: Clinical implications

Artur Kowalik, Aldona Kowalska, Agnieszka Walczyk, Renata Chodurska, Janusz Kopczyński, Magdalena Chrapek, Elżbieta Wypiórkiewicz, Małgorzata Chłopek, Liliana Pięciak, Danuta Gąsior-Perczak, Iwona Pałyga, Krzysztof Gruszczyński, Ewelina Nowak, Stanisław Góźdź

published 21 Jun 2017

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