Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

(2018) David Monk et al.   Epigenetics

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

(2018) Sayaka Kawashima et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

(2017) Masayo Kagami et al.   GENETICS IN MEDICINE

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

(2016) Susanne Bens et al.   Epigenomics

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

(2015) Tsutomu Ogata et al.   JOURNAL OF HUMAN GENETICS

ICR Noncoding RNA Expression Controls Imprinting and DNA Replication at the Dlk1-Dio3 Domain

(2014) Satya K. Kota et al.   DEVELOPMENTAL CELL

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

(2014) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

(2014) Toshiyuki Maeda et al.   GENETICS IN MEDICINE

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide Analysis of DNA Methylation Dynamics during Early Human Development

(2014) Hiroaki Okae et al.   PLoS Genetics

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

(2012) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

(2010) S. Maupetit-Mehouas et al.   JOURNAL OF MEDICAL GENETICS

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

(2010) Masayo Kagami et al.   PLoS Genetics

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

(2008) Masayo Kagami et al.   NATURE GENETICS