Associated Papers
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series.
Campwala I et al.
Pediatric Blood & Cancer, 2025
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.
Wegert J et al.
Genome Medicine, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Predisposition Footprints in the Somatic Genome of Wilms Tumors.
Treger TD et al.
Cancer Discovery, 2025
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Abu-El-Haija A et al.
American Journal of Medical Genetics. Part A, 2024
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.
Hu JCW et al.
Ophthalmic Genetics, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.
Montes-Rodríguez IM et al.
Cancer Medicine, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.
Flanagan DJ et al.
Nature Communications, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.
Arora V et al.
Journal of Pediatric Genetics, 2022
Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.
Stankunaite R et al.
European Journal of Cancer (oxford, England : 1990), 2022
DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.
Andersson N et al.
Communications Biology, 2021
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Bach A et al.
European Journal of Human Genetics : Ejhg, 2021
Assessment of somatic mutations in urine and plasma of Wilms tumor patients.
Miguez ACK et al.
Cancer Medicine, 2020
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 2019
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients.
Hsu HC et al.
Cancers, 2018
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
Enomoto Y et al.
Congenital Anomalies, 2018
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
Halliday BJ et al.
Plos Genetics, 2018
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.
Boulet C et al.
The British Journal of Radiology, 2016
Clinical next generation sequencing of pediatric-type malignancies in adult patients identifies novel somatic aberrations.
Silva JG et al.
Oncoscience, 2015
Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.
Torrezan GT et al.
Nature Communications, 2014
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.
Fujita A et al.
American Journal of Medical Genetics. Part A, 2014
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia.
Griffiths AL et al.
The Journal of Craniofacial Surgery, 2013
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Nikolaev SI et al.
Cancer Research, 2012
WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.
Zicari AM et al.
Italian Journal of Pediatrics, 2012
Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.
Haruta M et al.
Cancer Science, 2012
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Perdu B et al.
Clinical Genetics, 2011
WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact.
Wegert J et al.
Genes, Chromosomes & Cancer, 2009
Canonical WNT signalling determines lineage specificity in Wilms tumour.
Fukuzawa R et al.
Oncogene, 2009
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA et al.
Nature Genetics, 2009
Analysis Of Common Somatic Mutations In Colorectal Carcinoma And Associated Dysregulated Pathwaysarts.
Hassan S et al.
Journal of Ayub Medical College, Abbottabad : Jamc, 0