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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

(2016) Marta Sanchez-Delgado et al.   TRENDS IN GENETICS

Germline-derived DNA methylation and early embryo epigenetic reprogramming: The selected survival of imprints

(2015) David Monk   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management

(2015) Lukas Soellner et al.   MOLECULAR AND CELLULAR PROBES

Time for a standardized system of reporting sites of genomic methylation

(2015) Richard Saffery et al.   GENOME BIOLOGY

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

(2014) Intza Garin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

(2013) Jacqueline A. L. MacArthur et al.   NUCLEIC ACIDS RESEARCH

Genomic imprinting: the emergence of an epigenetic paradigm

(2011) Anne C. Ferguson-Smith   NATURE REVIEWS GENETICS