Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

(2020) Xianglong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Single-Cell Analysis Reveals Partial Reactivation of X Chromosome instead of Chromosome-wide Dampening in Naive Human Pluripotent Stem Cells

(2020) Susmita Mandal et al.   Stem Cell Reports

The impact of sex on gene expression across human tissues

(2020) Meritxell Oliva et al.   SCIENCE

Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY)

(2020) Elisabetta Fiacco et al.   Stem Cell Research

Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)

(2020) Maryam Alowaysi et al.   Stem Cell Research

Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23)

(2020) Maryam Alowaysi et al.   Stem Cell Research

Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G)

(2020) Elisabetta Fiacco et al.   Stem Cell Research

Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C)

(2020) Maryam Alowaysi et al.   Stem Cell Research

Distinct isoforms of Nrf1 diversely regulate different subsets of its cognate target genes

(2019) Meng Wang et al.   Scientific Reports

Human genes escaping X-inactivation revealed by single cell expression data

(2019) Kerem Wainer Katsir et al.   BMC GENOMICS

Global Characterization of X Chromosome Inactivation in Human Pluripotent Stem Cells

(2019) Shiran Bar et al.   Cell Reports

Three-Dimensional Genomic Structure and Cohesin Occupancy Correlate with Transcriptional Activity during Spermatogenesis

(2019) Covadonga Vara et al.   Cell Reports

The Number of X Chromosomes Influences Inflammatory Cytokine Production Following Toll-Like Receptor Stimulation

(2019) Nicolas Lefèvre et al.   Frontiers in Immunology

CiiiDER: A tool for predicting and analysing transcription factor binding sites

(2019) Linden J. Gearing et al.   PLoS One

Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells

(2019) Sarita Panula et al.   HUMAN REPRODUCTION

Differential and overlapping targets of the transcriptional regulators NRF1, NRF2, and NRF3 in human cells

(2019) Pengfei Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The DisGeNET knowledge platform for disease genomics: 2019 update

(2019) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

JASPAR 2020: update of the open-access database of transcription factor binding profiles

(2019) Oriol Fornes et al.   NUCLEIC ACIDS RESEARCH

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

(2018) Nicolas Chatron et al.   ANNALS OF NEUROLOGY

Haploinsufficiency of CUX1 causes non-syndromic global developmental delay with possible catch-up development

(2018) Konrad Platzer et al.   ANNALS OF NEUROLOGY

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

(2018) Maria Barington et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells

(2018) Sofia Boeg Winge et al.   Cell Death & Disease

An accurate and robust imputation method scImpute for single-cell RNA-seq data

(2018) Wei Vivian Li et al.   Nature Communications

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

(2018) Anne Skakkebæk et al.   Scientific Reports

Skewed X-inactivation is common in the general female population

(2018) Ekaterina Shvetsova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

(2018) Marco Garieri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

(2017) Tom Smith et al.   GENOME RESEARCH

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

(2017) Kirstine Belling et al.   HUMAN MOLECULAR GENETICS

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy

(2017) Nicole R. Tartaglia et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

SC3: consensus clustering of single-cell RNA-seq data

(2017) Vladimir Yu Kiselev et al.   NATURE METHODS

Comparative expression profiling of testis-enriched genes regulated during the development of spermatogonial cells

(2017) Jinsoo Ahn et al.   PLoS One

Human Embryonic Stem Cells Do Not Change Their X Inactivation Status during Differentiation

(2017) Sanjeet Patel et al.   Cell Reports

BBMerge – Accurate paired shotgun read merging via overlap

(2017) Brian Bushnell et al.   PLoS One

Chronicin vivostability assessment of carbon fiber microelectrode arrays

(2016) Paras R Patel et al.   Journal of Neural Engineering

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

(2016) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

Dosage compensation of the sex chromosomes and autosomes

(2016) Christine M. Disteche   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

(2016) M. Bonomi et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape

(2015) Céline Vallot et al.   Cell Stem Cell

Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

(2015) Michael Zitzmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Computational assignment of cell-cycle stage from single-cell transcriptome data

(2015) Antonio Scialdone et al.   METHODS

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

(2015) Neelroop N. Parikshak et al.   NATURE REVIEWS GENETICS

ClustVis: a web tool for visualizing clustering of multivariate data using Principal Component Analysis and heatmap

(2015) Tauno Metsalu et al.   NUCLEIC ACIDS RESEARCH

Cortical PGC-1α-Dependent Transcripts Are Reduced in Postmortem Tissue From Patients With Schizophrenia

(2015) Laura J. McMeekin et al.   SCHIZOPHRENIA BULLETIN

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

(2015) J. Pinero et al.   Database-The Journal of Biological Databases and Curation

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

(2015) Bradley P. Balaton et al.   Biology of Sex Differences

Generation of Functional Human Pancreatic β Cells In Vitro

(2014) Felicia W. Pagliuca et al.   CELL

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain

(2014) Joana Viana et al.   Epigenetics

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

(2014) Mary K. Samplaski et al.   FERTILITY AND STERILITY

Reversal of diabetes with insulin-producing cells derived in vitro from human pluripotent stem cells

(2014) Alireza Rezania et al.   NATURE BIOTECHNOLOGY

Coupling of X-Chromosome reactivation with the pluripotent stem cell state

(2014) Bernhard Payer et al.   RNA Biology

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Data-based filtering for replicated high-throughput transcriptome sequencing experiments

(2013) Andrea Rau et al.   BIOINFORMATICS

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Role and control of X chromosome dosage in mammalian development

(2013) Edda G Schulz et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Klinefelter syndrome and risk of psychosis, autism and ADHD

(2013) Martin Cederlöf et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Dosage compensation and inverse effects in triple X metafemales of Drosophila

(2013) L. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mouse transcription factor-like 5 gene encodes a protein localized in the manchette and centriole of the elongating spermatid

(2013) Y. Shi et al.   Andrology

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Molecular Signatures of Human Induced Pluripotent Stem Cells Highlight Sex Differences and Cancer Genes

(2012) Montserrat C. Anguera et al.   Cell Stem Cell

Recurrent Variations in DNA Methylation in Human Pluripotent Stem Cells and Their Differentiated Derivatives

(2012) Kristopher L. Nazor et al.   Cell Stem Cell

Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling

(2012) Shila Mekhoubad et al.   Cell Stem Cell

Aberrant Gene Expression Profiles in Pluripotent Stem Cells Induced from Fibroblasts of a Klinefelter Syndrome Patient

(2012) Yu Ma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Klinefelter Syndrome—A Clinical Update

(2012) Kristian A. Groth et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Expression reduction in mammalian X chromosome evolution refutes Ohno's hypothesis of dosage compensation

(2012) F. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

(2012) E. Pessia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation

(2012) Nicolas Lefèvre et al.   SHOCK

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

(2011) Nicole Tartaglia et al.   ACTA PAEDIATRICA

Regulation of X-chromosome inactivation by the X-inactivation centre

(2011) Sandrine Augui et al.   NATURE REVIEWS GENETICS

About PAR: The distinct evolutionary dynamics of the pseudoautosomal region

(2011) Sarah P. Otto et al.   TRENDS IN GENETICS

Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome

(2010) Andrea L. Gropman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Klinefelter's syndrome: new and rapid diagnosis by PGR analysis of XIST gene expression

(2010) A. Kleinheinz et al.   ANDROLOGIA

Autism, language and communication in children with sex chromosome trisomies

(2010) D. V. M. Bishop et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content

(2010) Jennifer F. Hughes et al.   NATURE

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

(2010) G. Forti et al.   Sexual Development

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

An extra X or Y chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

(2009) Judith L. Ross et al.   Developmental Disabilities Research Reviews

Cognitive and motor development during childhood in boys with Klinefelter syndrome

(2008) Judith L. Ross et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Xist RNA Is Confined to the Nuclear Territory of the Silenced X Chromosome throughout the Cell Cycle

(2008) I. Jonkers et al.   MOLECULAR AND CELLULAR BIOLOGY

X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells

(2008) S. S. Silva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA