Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia

H3K36 Methylation in Neural Development and Associated Diseases

(2020) Mattia Zaghi et al.   Frontiers in Genetics

Histone H3 lysine K4 methylation and its role in learning and memory

(2019) Bridget E. Collins et al.   Epigenetics & Chromatin

A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms

(2019) Kei Kasamo et al.   NEUROSCIENCE RESEARCH

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

jMorp: Japanese Multi Omics Reference Panel

(2017) Shu Tadaka et al.   NUCLEIC ACIDS RESEARCH

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

(2017) Tom S. Koemans et al.   PLoS Genetics

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

(2016) Wu-Lin Charng et al.   BMC Medical Genomics

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

(2016) Jonathan D. J. Labonne et al.   HUMAN GENETICS

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Hypoxia-Inducible Histone Lysine Demethylases: Impact on the Aging Process and Age-Related Diseases

(2016) Salminen Antero et al.   Aging and Disease

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

(2015) Jessica X. Chong et al.   GENETICS IN MEDICINE

Deciphering H3K4me3 broad domains associated with gene-regulatory networks and conserved epigenomic landscapes in the human brain

(2015) A Dincer et al.   Translational Psychiatry

De novoANKRD11andKDM1Agene mutations in a male with features of KBG syndrome and Kabuki syndrome

(2014) Sanjin Tunovic et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variant PRC1 Complex-Dependent H2A Ubiquitylation Drives PRC2 Recruitment and Polycomb Domain Formation

(2014) Neil P. Blackledge et al.   CELL

Gene-Specific Methylation Control of H3K9 and H3K36 on Neurotrophic BDNF versus Astroglial GFAP Genes by KDM4A/C Regulates Neural Stem Cell Differentiation

(2014) Anna Cascante et al.   JOURNAL OF MOLECULAR BIOLOGY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ZF-CxxC domain-containing proteins, CpG islands and the chromatin connection

(2013) Hannah K. Long et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Targeting H3K4 trimethylation in Huntington disease

(2013) M. Vashishtha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Epigenetic Signatures of Autism

(2011) Hennady P. Shulha   ARCHIVES OF GENERAL PSYCHIATRY

Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly

(2011) Tsuyoshi Fukuda et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome

(2009) Keisuke Nimura et al.   NATURE