Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

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Assessment of Haematological Parameters in Drug-Resistant TB by Abdulrazzaq Neamah Zghair

Subjects: “…Mutation…”
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Bioinformatics Interpretation of Exome Sequencing: Blood Cancer by Jiwoong Kim, Yun-Gyeong Lee, Namshin Kim

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Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome by Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi

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An illustrated key for identification of colour aberrations in alcids with a revision of nomenclature used by K. Cieślińska, P. Bodson, E. Gruber, K. Piening, M. Syposz, K. Wojczulanis-Jakubas, D. Jakubas

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Unbinding of alpha chain of hemoglobin in sickle and normal structures by Jhulan Powrel, Rajendra Prasad Koirala, Narayan Prasad Adhikari

Subjects: “…mutation…”
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An ensemble machine learning-based performance evaluation identifies top In-Silico pathogenicity prediction methods that best classify driver mutations in cancer by Subrata Das, Vatsal Patel, Shouvik Chakravarty, Arnab Ghosh, Anirban Mukhopadhyay, Nidhan K. Biswas

Subjects: “…Driver mutation…”
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Rebiopsy Enhances Survival with Afatinib vs. Osimertinib in EGFR Exon 19 Deletion Non-Small Cell Lung Cancer: A Multicenter Study in Taiwan by Jerry Shu-Hung Kuo, Cheng-Yu Chang, Shih-Chieh Chang, Yu-Feng Wei, Chung-Yu Chen

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Reconversion(s) territoriale(s) sur l’avenue de Kurtuluş by Cilia Martin

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Somatic Mutaome Profile in Human Cancer Tissues by Nayoung Kim, Yourae Hong, Doyoung Kwon, Sukjoon Yoon

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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy by Shabana Kareem, Reemy Sara Mathai

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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

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Target‐site mutations Ile1781Leu and Ile2041Asn in the ACCase2 gene confer resistance to fluazifop‐p‐butyl and pinoxaden herbicides in a johnsongrass accession from Arkansas, USA by Fidel González‐Torralva, Jason K. Norsworthy

Subjects: “…johnsongrass, target‐site mutation…”
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How the BRAF V600E Mutation Defines a Distinct Subgroup of Colorectal Cancer: Molecular and Clinical Implications by Catherine E. Bond, Vicki L. J. Whitehall

“…The BRAF oncogene is an integral component of the MAP kinase pathway, and an activating V600E mutation occurs in 15% of sporadic colorectal cancer. …”
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BRAF inhibitor monotherapy in BRAFV600E-mutated pediatric low-grade glioma: a single center’s experience by S. S. McThenia, S. S. McThenia, S. S. McThenia, K. M. Reddy, K. M. Reddy, E. Damaraju, E. Castellino, Z. He, R. Beer, F. Chien, F. Chien, F. Chien, R. C. Castellino, R. C. Castellino, R. C. Castellino, A. E. Goldman-Yassen, A. E. Goldman-Yassen, J. R. Fangusaro, J. R. Fangusaro, J. R. Fangusaro, T. MacDonald, T. MacDonald, T. MacDonald

Subjects: “…BRAFV600E-mutation…”
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Lynch Syndrome—Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches by Tudor Razvan Grigorie, Gheorghe Potlog, Sorin Tiberiu Alexandrescu

“…Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. Carriers of path_MLH1 and path_MSH2 genes have a higher risk of developing colorectal cancer (CRC), despite intensive colonoscopic surveillance. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). …”
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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

“…The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. …”
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TP53 Mutation Predicts Worse Survival and Earlier Local Progression in Patients with Hepatocellular Carcinoma Treated with Transarterial Embolization by Ken Zhao, Anita Karimi, Luke Kelly, Elena Petre, Brett Marinelli, Erica S. Alexander, Vlasios S. Sotirchos, Joseph P. Erinjeri, Anne Covey, Constantinos T. Sofocleous, James J. Harding, William Jarnagin, Carlie Sigel, Efsevia Vakiani, Etay Ziv, Hooman Yarmohammadi

“…The cumulative incidences of local progression at 6 and 12 months for TP53-mutant HCC were 65.4% and 84.6%, versus 40.8% and 55.1% for TP53 wild-type HCC (<i>p</i> = 0.0072). A TP53 mutation may predict a worse overall survival and a shorter time to local progression in HCC patients treated with TAE.…”
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Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

“…This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. …”
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