@article{90e31fc9eb8e453c8d97bd6185bd6598,
title = "Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711",
abstract = "ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.",
author = "Jiyong Wang and Aidin Foroutan and Ellen Richardson and Skinner, {Steven A.} and Jack Reilly and Jennifer Kerkhof and Curry, {Cynthia J.} and Tarpey, {Patrick S.} and Robertson, {Stephen P.} and Isabelle Maystadt and Boris Keren and Dixon, {Joanne W.} and Cindy Skinner and Rachel Stapleton and Lyse Ruaud and Evren Gumus and Phillis Lakeman and Mari{\"e}lle Alders and Tedder, {Matthew L.} and Schwartz, {Charles E.} and Friez, {Michael J.} and Bekim Sadikovic and Stevenson, {Roger E.}",
note = "Funding Information: We thank members of the families for participating in this research. Dedicated to the memory of Ethan Francis Schwartz, 1996–1998. Funding for this research was provided, in part, by NIH grant HD-26202 to CES, Curekids New Zealand to SPR, the Wellcome Trust Sanger Institute, the Greenwood Genetic Center Foundation, the South Carolina Department of Disabilities and Special Needs, and the London Health Sciences Molecular Diagnostics Development Fund and Genome Canada Genomic Applications Partnership Program Grant awarded to BS (Beyond Genomics: Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada, EpiSign-CAN). Publisher Copyright: {\textcopyright} 2021, The Author(s), under exclusive licence to European Society of Human Genetics.",
year = "2022",
month = apr,
day = "1",
doi = "https://doi.org/10.1038/s41431-021-01018-1",
language = "English",
volume = "30",
pages = "420--427",
journal = "European journal of human genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "4",
}