Publications by authors named "Howard R Slater"

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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, Howard R Slater

Mol Autism· June 2020

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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

Am J Transplant· April 2019

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β-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

PLoS One· March 2018

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Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.
Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Howard Robert Slater

Genes (Basel)· January 2017

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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, Howard Robert Slater

Am J Med Genet A· December 2016

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Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Howard Robert Slater

Genes (Basel)· September 2016

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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Solange M Aliaga, Howard R Slater, David Francis, Desiree Du Sart, Xin Li

Clin Chem· February 2016

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Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
Zornitza Stark, David Francis, Lydia Gaffney, Jacqueline Greenberg, Louise Hills, Howard R Slater

Am J Med Genet A· October 2015

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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
David E Godler, Yoshimi Inaba, Charles E Schwartz, Quang M Bui, Elva Z Shi, Howard R Slater

Expert Rev Mol Med· July 2015

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Detection of segmental chromosome copy number gains by improved fluorescence in situ hybridization techniques.
Nicole L Chia, Howard R Slater, Julia M Potter

J Assoc Genet Technol· June 2015

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Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.
Kim M Cornish, Claudine M Kraan, Quang Minh Bui, Mark A Bellgrove, Sylvia A Metcalfe, Howard R Slater

Neurology· April 2015

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Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.
Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Howard R Slater

PLoS One· September 2014

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Use of copy number deletion polymorphisms to assess DNA chimerism.
Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo, Howard R Slater

Clin Chem· August 2014

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Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Yoshimi Inaba, Charles E Schwartz, Quang M Bui, Xin Li, Cindy Skinner, Howard R Slater

Clin Chem· July 2014

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Methylation analysis in newborn screening for fragile X syndrome.
David E Godler, David J Amor, Howard R Slater

JAMA Neurol· June 2014

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Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel, Howard R Slater

Am J Med Genet A· January 2014

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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Frédérique Béna, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Howard R Slater

Am J Med Genet B Neuropsychiatr Genet· June 2013

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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Yoshimi Inaba, Amy S Herlihy, Charles E Schwartz, Cindy Skinner, Quang M Bui, Howard R Slater

Genet Med· April 2013

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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
David E Godler, Yoshimi Inaba, Elva Z Shi, Cindy Skinner, Quang M Bui, Howard R Slater

Hum Mol Genet· April 2013

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Application of a new molecular technique for the genetic evaluation of products of conception.
Francesca R Grati, Denise Molina Gomes, Devika Ganesamoorthy, Livia Marcato, Simona De Toffol, Howard R Slater

Prenat Diagn· January 2013

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Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.
David E Godler, Howard R Slater, Quang M Bui, Elsdon Storey, Michele Y Ono

Clin Chem· March 2012

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Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Damien L Bruno, Zornitza Stark, David J Amor, Trent Burgess, Kathy Butler, Howard R Slater

Hum Mutat· December 2011

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FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.
David E Godler, Howard R Slater, Quang M Bui, Michele Ono, Freya Gehling

J Mol Diagn· September 2011

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Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Howard R Slater

Am J Med Genet A· July 2011

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Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Danuta Z Loesch, David E Godler, Andrew Evans, Quang M Bui, Freya Gehling, Howard R Slater

Genet Med· May 2011

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