Howard Slater

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K Baker, Solange M Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G Phelan, Elizabeth E Palmer, David J Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E Godler

Journal article  |  2019  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (..

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Emma K Baker, Marta Arpone, Solange M Aliaga, Lesley Bretherton, Claudine M Kraan, Bui Minh, Howard R Slater, Ling Ling, David Francis, Matthew F Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, et al.

Journal article  |  2019  |  MOLECULAR AUTISM

Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caus..

Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction

John B Whitlam, Ling Ling, Alison Skene, John Kanellis, Francseco L Ierino, Howard R Slater, Damien L Bruno, David A Power

Journal article  |  2019  |  AMERICAN JOURNAL OF TRANSPLANTATION

Graft-derived cell-free DNA (donor-derived cell-free DNA) is an emerging marker of kidney allograft injury. Studies examining the ..

Tobacco product use and smoking frequency among US adults with intellectual and developmental disabilities

E Eisenbaum

Conference Proceedings  |  2018  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

BACKGROUND: People with intellectual and developmental disabilities (IDD) have been overlooked in tobacco use research although th..

beta-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies

Claudine M Kraan, Kim M Cornish, Quang M Bui, Xin Li, Howard R Slater, David E Godler

Journal article  |  2018  |  PLOS ONE

Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions suppor..

ADGRV1 is implicated in myoclonic epilepsy

Kenneth A Myers, Steven Nasioulas, Amber Boys, Jacinta M McMahon, Howard Slater, Paul Lockhart, Desiree du Sart, Ingrid E Scheffer

Journal article  |  2018  |  EPILEPSIA

OBJECTIVE: To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes ..

Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation

John B Whitlam, Ling Ling, Michael Swain, Tom Harrington, Oksana Mirochnik, Ian Brooks, Sara Cronin, Jackie Challis, Vida Petrovic, Damien L Bruno, Francoise Mechinaud, Rachel Conyers, Howard Slater

Journal article  |  2017  |  EXPERIMENTAL HEMATOLOGY

Chimerism analysis has an important role in the management of allogeneic hematopoietic stem cell transplantation. It informs respo..

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

AL Shelton, KM Cornish, S Kolbe, M Clough, HR Slater, X Li, CM Kraan, QM Bui, DE Godler, J Fielding

Journal article  |  2016  |  TRANSLATIONAL PSYCHIATRY

DNA methylation of the Fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary has been associated with executive dysfuncti..

Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia at 30 Years of Age: A Case Report

Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler

Journal article  |  2016  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silenc..

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desiree du Sart, Robert Heard, David Eugeny Godler

Journal article  |  2016  |  GENES

Mosaicism for FMR1 premutation (PM: 55-199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have..