Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability

(2021) Evonne McArthur et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omic profiling of pituitary thyrotropic cells and progenitors

(2021) Alexandre Z. Daly et al.   BMC BIOLOGY

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas

(2021) Mervi Aavikko et al.   HUMAN MOLECULAR GENETICS

Topological isolation of developmental regulators in mammalian genomes

(2021) Hua-Jun Wu et al.   Nature Communications

Induction of a chromatin boundary in vivo upon insertion of a TAD border

(2021) Andréa Willemin et al.   PLoS Genetics

Towards a comprehensive catalogue of validated and target-linked human enhancers

(2020) Molly Gasperini et al.   NATURE REVIEWS GENETICS

Candidate silencer elements for the human and mouse genomes

(2020) Naresh Doni Jayavelu et al.   Nature Communications

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

(2020) Uirá Souto Melo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis

(2020) Giampaolo Trivellin et al.   ENDOCRINE-RELATED CANCER

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

(2020) Suzanne E. de Bruijn et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of Gs and Gq/11

(2020) Dayana Abboud et al.   Nature Communications

José Luis Gómez-Skarmeta (1966-2020)

(2020) Fernando Casares et al.   DEVELOPMENT

The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish

(2020) Giampaolo Trivellin et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

(2019) Brittany K Wise-Oringer et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

(2019) Yingyao Zhou et al.   Nature Communications

A Conserved Noncoding Locus Regulates Random Monoallelic Xist Expression across a Topological Boundary

(2019) Rafael Galupa et al.   MOLECULAR CELL

Common tools for pituitary adenomas research: cell lines and primary cells

(2019) Ziyan Zhu et al.   Pituitary

An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations

(2018) Giampaolo Trivellin et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Pioneer factor Pax7 deploys a stable enhancer repertoire for specification of cell fate

(2018) Alexandre Mayran et al.   NATURE GENETICS

Structural variation in the 3D genome

(2018) Malte Spielmann et al.   NATURE REVIEWS GENETICS

The causes and consequences of pituitary gigantism

(2018) Albert Beckers et al.   Nature Reviews Endocrinology

The UCSC Genome Browser database: 2019 update

(2018) Maximilian Haeussler et al.   NUCLEIC ACIDS RESEARCH

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)

(2017) Anja J Will et al.   NATURE GENETICS

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

(2017) Simon Fishilevich et al.   Database-The Journal of Biological Databases and Curation

CTCF and Cohesin in Genome Folding and Transcriptional Gene Regulation

(2016) Matthias Merkenschlager et al.   Annual Review of Genomics and Human Genetics

Characterization ofGPR101transcript structure and expression patterns

(2016) Giampaolo Trivellin et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Formation of new chromatin domains determines pathogenicity of genomic duplications

(2016) Martin Franke et al.   NATURE

Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking

(2016) Joachim Weischenfeldt et al.   NATURE GENETICS

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

(2015) A. Beckers et al.   ENDOCRINE-RELATED CANCER

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

(2015) Liliya Rostomyan et al.   ENDOCRINE-RELATED CANCER

Chromatin architecture reorganization during stem cell differentiation

(2015) Jesse R. Dixon et al.   NATURE

Integrative analysis of haplotype-resolved epigenomes across human tissues

(2015) Danny Leung et al.   NATURE

Evolutionary comparison reveals that diverging CTCF sites are signatures of ancestral topological associating domains borders

(2015) Carlos Gómez-Marín et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comparative Hi-C Reveals that CTCF Underlies Evolution of Chromosomal Domain Architecture

(2015) Matteo Vietri Rudan et al.   Cell Reports

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

A promoter-level mammalian expression atlas

(2014)   NATURE

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

(2014) Giampaolo Trivellin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Large-Scale Identification of Coregulated Enhancer Networks in the Adult Human Brain

(2014) Marit W. Vermunt et al.   Cell Reports

Temporal dynamics and developmental memory of 3D chromatin architecture at Hox gene loci

(2014) Daan Noordermeer et al.   eLife

A comparison of methods for differential expression analysis of RNA-seq data

(2013) Charlotte Soneson et al.   BMC BIOINFORMATICS

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

PaGenBase: A Pattern Gene Database for the Global and Dynamic Understanding of Gene Function

(2013) Jian-Bo Pan et al.   PLoS One

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Determining long-range chromatin interactions for selected genomic sites using 4C-seq technology: From fixation to computation

(2012) Erik Splinter et al.   METHODS

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Spatial partitioning of the regulatory landscape of the X-inactivation centre

(2012) Elphège P. Nora et al.   NATURE

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

MPromDb update 2010: an integrated resource for annotation and visualization of mammalian gene promoters and ChIP-seq experimental data

(2010) Ravi Gupta et al.   NUCLEIC ACIDS RESEARCH

Expression cloning inXenopusidentifies RNA‐binding proteins as regulators of embryogenesis and Rbmx as necessary for neural and muscle development

(2008) Darwin S. Dichmann et al.   DEVELOPMENTAL DYNAMICS