USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors

Mutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice

(2020) Yun Rose Li et al.   Nature Communications

BAP1: role in carcinogenesis and clinical implications

(2020) Daniel A. Kobrinski et al.   Translational Lung Cancer Research

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Driver mutations in USP8 wild-type Cushing’s disease

(2019) Silviu Sbiera et al.   NEURO-ONCOLOGY

The New Genetic Landscape of Cushing’s Disease: Deubiquitinases in the Spotlight

(2019) Silviu Sbiera et al.   Cancers

The non-receptor tyrosine kinase ACK: regulatory mechanisms, signalling pathways and opportunities for attACKing cancer

(2019) Millie Fox et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Pangenomic Classification of Pituitary Neuroendocrine Tumors

(2019) Mario Neou et al.   CANCER CELL

The Genetics of Pituitary Adenomas

(2019) Christina Tatsi et al.   Journal of Clinical Medicine

Genomic and Functional Approaches to Understanding Cancer Aneuploidy

(2018) Alison M. Taylor et al.   CANCER CELL

The USP8 mutational status may predict long-term remission in patients with Cushing′s disease

(2018) Adriana Albani et al.   CLINICAL ENDOCRINOLOGY

Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas

(2018) Mirella Hage et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

(2018) Francis Blokzijl et al.   Genome Medicine

Marked response of a hypermutated adrenocorticotropic hormone-secreting pituitary carcinoma to ipilimumab and nivolumab

(2018) Andrew L Lin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of recurrent USP48 and BRAF mutations in Cushing’s disease

(2018) Jianhua Chen et al.   Nature Communications

Large genomic aberrations in corticotropinomas are associated with greater aggressiveness

(2018) Christina Tatsi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors

(2017) Wenya Linda Bi et al.   ENDOCRINOLOGY

PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex

(2017) Florian W Kiefer et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson’s tumor

(2017) Luis G Pérez-Rivas et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

(2017) Fabio R Faucz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GenVisR: Genomic Visualizations in R

(2016) Zachary L. Skidmore et al.   BIOINFORMATICS

The genome-wide mutational landscape of pituitary adenomas

(2016) Zhi-Jian Song et al.   CELL RESEARCH

Landscape of Genomic Alterations in Pituitary Adenomas

(2016) Wenya Linda Bi et al.   CLINICAL CANCER RESEARCH

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

The Ensembl gene annotation system

(2016) Bronwen L. Aken et al.   Database-The Journal of Biological Databases and Curation

Functional interactions among members of the MAX and MLX transcriptional network during oncogenesis

(2015) Daniel Diolaiti et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Recurrent gain-of-function USP8 mutations in Cushing's disease

(2015) Zeng-Yi Ma et al.   CELL RESEARCH

The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease

(2015) K. Hayashi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease

(2015) Luis G. Perez-Rivas et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cushing's syndrome

(2015) André Lacroix et al.   LANCET

Identification of rare germline copy number variations over-represented in five human cancer types

(2015) Richard W Park et al.   Molecular Cancer

p53 in survival, death and metabolic health: a lifeguard with a licence to kill

(2015) Flore Kruiswijk et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

SAAS-CNV: A Joint Segmentation Approach on Aggregated and Allele Specific Signals for the Identification of Somatic Copy Number Alterations with Next-Generation Sequencing Data

(2015) Zhongyang Zhang et al.   PLoS Computational Biology

Genetics of Cushing’s disease: an update

(2015) L. G. Perez-Rivas et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Mutant p53 in Cancer: New Functions and Therapeutic Opportunities

(2014) Patricia A.J. Muller et al.   CANCER CELL

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

(2014) Ludmil B Alexandrov et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

(2014) Martin Reincke et al.   NATURE GENETICS

Mechanisms underlying mutational signatures in human cancers

(2014) Thomas Helleday et al.   NATURE REVIEWS GENETICS

MSIsensor: microsatellite instability detection using paired tumor-normal sequence data

(2013) Beifang Niu et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

USP8 Promotes Smoothened Signaling by Preventing Its Ubiquitination and Changing Its Subcellular Localization

(2012) Ruohan Xia et al.   PLOS BIOLOGY

Giant Pituitary Adenomas

(2011) Helen Madsen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Labeling index in pituitary adenomas evaluated by means of MIB-1: is there a prognostic role? A critical review

(2010) Paulo Henrique Pires de Aguiar et al.   NEUROLOGICAL RESEARCH

P53gene mutation in an atypical corticotroph adenoma with Cushing's disease

(2008) Sachiko-Tsukamoto Kawashima et al.   CLINICAL ENDOCRINOLOGY