A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation

(2021) Abdul Haseeb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity

(2020) Da Un Jeong et al.   Computational and Mathematical Methods in Medicine

The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization

(2020) Daniel M Ibrahim et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Expanded encyclopaedias of DNA elements in the human and mouse genomes

(2020) Jill E. Moore et al.   NATURE

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

(2020) Orazio Palumbo et al.   Genes

A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia

(2020) Mohan Liu et al.   Molecular Genetics & Genomic Medicine

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

(2019) Silvia Morlino et al.   HUMAN MUTATION

Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

(2019) Alexandra Despang et al.   NATURE GENETICS

A compendium of promoter-centered long-range chromatin interactions in the human genome

(2019) Inkyung Jung et al.   NATURE GENETICS

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

European guidelines for constitutional cytogenomic analysis

(2018) Marisa Silva et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Formation of new chromatin domains determines pathogenicity of genomic duplications

(2016) Martin Franke et al.   NATURE

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

(2016) Darío G. Lupiáñez et al.   TRENDS IN GENETICS

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream ofSOX9, and includingKCNJ2andKCNJ16

(2015) Marco Castori et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream ofSOX9, and includingKCNJ2andKCNJ16

(2015) Marco Castori et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2014) Suhas S.P. Rao et al.   CELL

Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of the Entire KCNJ2 Gene as a Cause of Sudden Cardiac Death

(2014) R. Marquis-Nicholson et al.   Circulation-Cardiovascular Genetics

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Structural variations, the regulatory landscape of the genome and their alteration in human disease

(2013) Malte Spielmann et al.   BIOESSAYS

Impacts of Variation in the Human Genome on Gene Regulation

(2013) Rajini R. Haraksingh et al.   JOURNAL OF MOLECULAR BIOLOGY

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS