Below you will find scientific publications authored by our members or those enabled by our platform services.
2020
Choufani, Sanaa; Gibson, William T; Turinsky, Andrei L; Chung, Brian H Y; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana S A; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M; Lynch, Sally Ann; Clericuzio, Carol; Temple, Karen I; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Journal Article
In: The American Journal of Human Genetics, vol. 106, no. 5, pp. 596–610, 2020, ISSN: 0002-9297, 1537-6605, (Publisher: Elsevier).
Links | BibTeX | Tags: DNA methylation signature, EED, intellectual disability, overgrowth syndromes, SUZ12
@article{choufani_dna_2020,
title = {DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes},
author = {Sanaa Choufani and William T Gibson and Andrei L Turinsky and Brian H Y Chung and Tianren Wang and Kopal Garg and Alessandro Vitriolo and Ana S A Cohen and Sharri Cyrus and Sarah Goodman and Eric Chater-Diehl and Jack Brzezinski and Michael Brudno and Luk Ho Ming and Susan M White and Sally Ann Lynch and Carol Clericuzio and Karen I Temple and Frances Flinter and Vivienne McConnell and Tom Cushing and Lynne M Bird and Miranda Splitt and Bronwyn Kerr and Stephen W Scherer and Jerry Machado and Eri Imagawa and Nobuhiko Okamoto and Naomichi Matsumoto and Guiseppe Testa and Maria Iascone and Romano Tenconi and Oana Caluseriu and Roberto Mendoza-Londono and David Chitayat and Cheryl Cytrynbaum and Katrina Tatton-Brown and Rosanna Weksberg},
url = {https://www.cell.com/ajhg/abstract/S0002-9297(20)30084-7},
doi = {10.1016/j.ajhg.2020.03.008},
issn = {0002-9297, 1537-6605},
year = {2020},
date = {2020-01-01},
urldate = {2021-05-26},
journal = {The American Journal of Human Genetics},
volume = {106},
number = {5},
pages = {596--610},
note = {Publisher: Elsevier},
keywords = {DNA methylation signature, EED, intellectual disability, overgrowth syndromes, SUZ12},
pubstate = {published},
tppubtype = {article}
}