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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, [ ... ], Tianshu Liu

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

Ayal B. Gussow, Brett R. Copeland, [ ... ], David B. Goldstein

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

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, [ ... ], on behalf of The PodoNet Consortium

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, [ ... ], Chiara Magri

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, [ ... ], Johji Inazawa

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

Sanambar Sadighi, Mohammad Zokaasadi, [ ... ], Hosein Kamranzadeh Fumani

DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, [ ... ], Kamila Réblová

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

Meenakshi Mehrotra, Dzifa Yawa Duose, [ ... ], Rajyalakshmi Luthra

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

Ebun Omoyinmi, Ariane Standing, [ ... ], Paul A. Brogan

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, [ ... ], Shuguo Zheng

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

Helena Pópulo, Rui Batista, [ ... ], Paula Soares

Genetic basis of calcifying cystic odontogenic tumors

Akane Yukimori, Yu Oikawa, [ ... ], Kei Sakamoto

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

Artur Kowalik, Aldona Kowalska, [ ... ], Stanisław Góźdź

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