Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S8.HighCoverageVariantsExpPanel
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a
Phenotypic spectrum of FGF10-related disorders: a systematic review.
Bzdega K et al.
Peerj, 2022
Distinct genetic alterations and luminal molecular subtype in nested variant of urothelial carcinoma.
Weyerer V et al.
Histopathology, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA et al.
American Journal of Human Genetics, 2019
38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.
Stevens CA et al.
American Journal of Medical Genetics. Part A, 2018
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 2015
25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3
Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.
Ong M et al.
British Journal of Cancer, 2014
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