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FEATURED Journal article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X TestingRead more
Howard Slater's selected work
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associat..
Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during tr..
Tobacco product use and smoking frequency among US adults with intellectual and developmen..
beta-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRN..
Displaying the 92 most recent scholarly works by 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
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
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
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
Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions
Megan Cotter, Alison D Archibald, Belinda J McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen, Sylvia A Metcalfe
Journal article | 2016 | American Journal of Medical Genetics Part A
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, David J Amor, Angelica M Alliende, Lorena Santa Maria, Victor Faundes, Paulina Morales, Cesar Trigo, Isabel Salas, Bianca Curotto, David E Godler
Journal article | 2016 | Clinical Chemistry
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, Xin Li, Amy S Herlihy, Cindy Skinner, Randi J Hagerman, David Francis, David J Amor, Sylvia A Metcalfe, John L Hopper, Howard R Slater
Journal article | 2015 | Expert Reviews in Molecular Medicine
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women
Kim M Cornish, Claudine M Kraan, Minh Bui Quang, Mark A Bellgrove, Sylvia A Metcalfe, Julian N Trollor, Darren R Hocking, Howard R Slater, Yoshimi Inaba, Xin Li, Alison D Archibald, Erin Turbitt, Jonathan Cohen, David E Godler
Journal article | 2015 | Neurology
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion
DZ Loesch, MQ Bui, E Hammersley, A Schneider, E Storey, P Stimpson, T Burgess, D Francis, H Slater, F Tassone, RJ Hagerman, D Hessl
Journal article | 2015 | Clinical Genetics
Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism
Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo, Sue Forrest, Marieke Veenendaal, Marina Katerelos, Alison Skene, Frank L Ierino, David A Power, Howard R Slater
Journal article | 2014 | Clinical Chemistry
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, Michael Field, Tiffany Wotton, Randi J Hagerman, David Francis, David J Amor, John L Hopper, Danuta Z Loesch, Lesley Bretherton, Howard R Slater, David E Godler
Journal article | 2014 | Clinical Chemistry
Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions
Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel, Belinda Chong, Vanessa Calabro, Andrew Kornberg, Christine Sanderson, Julian Kelly, Katherine B Howell, Ravi Savarirayan, Rupert Hinds, Anthea Greenway, Howard R Slater, Susan M White
Journal article | 2014 | American Journal of Medical Genetics. Part A
White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study
Nicholas Trost, Mark Cook, Eleanor Hammersley, Minh Q Bui, Peter Brotchie, Trent Burgess, Howard Slater, Elsdon Storey, Danuta Z Loesch
Journal article | 2014 | Neurodegenerative Diseases
High resolution chromosomal microarray in undiagnosed neurological disorders
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Jeremy L Freeman, M Victoria Rodriguez Casero, Kevin J Collins, Michael Hayman, Ahmad Mohamed, Tyson L Ware, Damian Clark, Damien L Bruno, Trent Burgess, Howard Slater, George McGillivray, Richard J Leventer
Journal article | 2013 | Journal of Paediatrics and Child Health
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Frederique Bena, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann Charlotte Thuresson, Audrey Labalme, Marianne Till, Frederic Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, et al.
Journal article | 2013 | American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
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, David Francis, David J Amor, John L Hopper, Danuta Z Loesch, Randi J Hagerman, Charles E Schwartz, Howard R Slater
Journal article | 2013 | Human Molecular Genetics
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, Joanna Cobb, Elva Z Shi, David Francis, Alison Arvaj, David J Amor, Kate Pope, Tiffany Wotton, Jonathan Cohen, Jacqueline K Hewitt, Randi J Hagerman, Sylvia A Metcalfe, John L Hopper, Danuta Z Loesch, Howard R Slater, David E Godler
Journal article | 2013 | Genetics in Medicine
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, DJ Amor, A Yeung, R Oertel, MD Pertile, C Ngo, AR Arvaj, S Walker, P Charan, R Palma-Dias, N Woodrow, HR Slater
Journal article | 2013 | BJOG
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population
M Martyn, V Anderson, A Archibald, R Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, S Younie, S Metcalfe
Journal article | 2013 | BMJ Open
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, Eleonore Blondeel, Francesca Malvestiti, Laurence Loeuillet, Anna Maria Ruggeri, Robert Wainer, Federico Maggi, Azzedine Aboura, Celine Dupont, Anne Claude Tabet, Fabien Guimiot, Howard R Slater, Giuseppe Simoni, Francois Vialard
Journal article | 2013 | Prenatal Diagnosis
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, Freya Gehling, Yoshimi Inaba, David Francis, John L Hopper, Glynda Kinsella, David J Amor, Randi J Hagerman, Danuta Z Loesch
Journal article | 2012 | Clinical Chemistry
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, Sylvea Corrie, David Francis, Devika Ganesamoorthy, Louise Hills, Paul A James, Darren O'Rielly, Ralph Oertel, Ravi Savarirayan, Krishnamurthy Prabhakara, Nicholas Salce, Howard R Slater
Journal article | 2011 | Human Mutation
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
DL Bruno, SM White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, D Francis, L Hills, K Prabhakara, C Ngo, F Norris, R Oertel, MD Pertile, Z Stark, DJ Amor, HR Slater
Journal article | 2011 | Journal of Medical Genetics
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, David Francis, David J Amor, John L Hopper, Randi Hagerman, Danuta Z Loesch
Journal article | 2011 | Journal of Molecular Diagnostics
Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Christopher T Gordon, Richard J Leventer, Kate Pope, Robin Forbes, John A Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L Bruno, Howard R Slater, Peter G Farlie, David J Amor
Journal article | 2011 | American Journal of Medical Genetics. Part A
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, Katya E Kotschet, Nicholas Trost, Elsdon Storey, Paige Stimpson, Glynda Kinsella, David Francis, David R Thorburn, Alison Venn, Howard R Slater, Malcolm Horne
Journal article | 2011 | Genetics in Medicine
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
Journal article | 2010 | PLoS One
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, Conny van Ravenswaaij-Arts, Devika Ganesamoorthy, Johanna Lundin, Christa Lese Martin, Jessica Douglas, Catherine Nowak, Margaret P Adam, R Frank Kooy, Nathalie Van der Aa, Edwin Reyniers, Geert Vandeweyer, Irene Stolte-Dijkstra, Trijnie Dijkhuizen, Alison Yeung, Martin Delatycki, Birgit Borgstrom, Lena Thelin, et al.
Journal article | 2010 | Journal of Medical Genetics
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
David Eugeny Godler, Flora Tassone, Danuta Zuzanna Loesch, Annette Kimball Taylor, Freya Gehling, Randi Jenssen Hagerman, Trent Burgess, Devika Ganesamoorthy, Debbie Hennerich, Lavinia Gordon, Andrew Evans, KH Choo, Howard Robert Slater
Journal article | 2010 | HUMAN MOLECULAR GENETICS
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X) (p11.4p21.1)
David Coman, Joy Yaplito-Lee, Phung La, Steven Nasioulas, Damien Bruno, Howard R Slater, Sharyn E Stock-Myer, Elly L Lynch, RJ McKinlay Gardner
Journal article | 2010 | Molecular Genetics and Metabolism
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
J Wincent, DL Bruno, BWM van Bon, A Bremer, H Stewart, EMHF Bongers, CW Ockeloen, MH Willemsen, DDA Keays, G Baird, DF Newbury, T Kleefstra, C Marcelis, U Kini, Z Stark, R Savarirayan, LJ Sheffield, O Zuffardi, HR Slater, BB de Vries, et al.
Journal article | 2010 | Molecular Syndromology
The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic ins..
Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15
Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, Elsdon Storey, Martin B Delatycki, Danqing Zhu, Morgan K Wei, Garth A Nicholson, RJ McKinlay Gardner, Howard R Slater
Journal article | 2009 | Clinical Chemistry
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C Cardoso, A Boys, E Parrini, C Mignon-Ravix, JM McMahon, S Khantane, E Bertini, E Pallesi, C Missirian, O Zuffardi, F Novara, L Villard, S Giglio, B Chabrol, HR Slater, A Moncla, IE Scheffer, R Guerrini
Journal article | 2009 | Neurology
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, M Delatycki, RJM Gardner, M Hunter, PA James, P Kannu, G McGillivray, N Pachter, H Peters, C Rieubland, R Savarirayan, IE Scheffer, L Sheffield, T Tan, SM White, A Yeung, et al.
Journal article | 2009 | Journal of Medical Genetics
A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study
Sylvia Metcalfe, Alice Jacques, Alison Archibald, Trent Burgess, Veronica Collins, Anna Henry, Kathleen McNamee, Leslie Sheffield, Howard Slater, Samantha Wake, Jonathan Cohen
Journal article | 2008 | Genetics in Medicine
High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy
Damien L Bruno, Trent Burgess, Hua Ren, Sara Nouri, Mark D Pertile, David I Francis, Fiona Norris, Bronwyn K Kenney, Jan Schouten, KH Andy Choo, Howard R Slater
Journal article | 2006 | American Journal of Medical Genetics
Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds
J Perry, SM White, S Nouri, SM Bain, RG Hutchinson, P La, E Northrop, HJ Eyre, MD Pertile, TA Hocking, EM Thompson, S Yu, KHA Choo, HR Slater
Journal article | 2005 | American Journal of Medical Genetics
Identification and characterization of a novel family of mammalian ependymin-related proteins (MERPs) in hematopoietic, nonhematopoietic, and malignant tissues
J Apostolopoulos, RL Sparrow, JL McLeod, FM Collier, PK Darcy, HR Slater, C Ngu, CC Gregorio-King, MA Kirkland
Journal article | 2001 | DNA and Cell Biology
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
HR Slater, A Ralph, A Daniel, S Worthington, C Roberts
Journal article | 2000 | Prenatal Diagnosis
Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome a..
Maternal uniparental isodisomy for chromosome 14 detected prenatally.
A Ralph, F Scott, C Tiernan, M Caubere, S Kollegger, J Junio, C Roberts, K Ewen, HR Slater
Journal article | 1999 | Prenatal Diagnosis
Maternal uniparental disomy (UPD) for chromosome 14 (upd(14)mat) has been associated with a distinct phenotype. We describe the fi..
Syndromal obesity due to paternal duplication 6(q24.3-q27).
A Smith, A Jauch, H Slater, L Robson, T Sandanam
Journal article | 1999 | American Journal of Medical Genetics
The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient..
Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.
MB Delatycki, L Voullaire, D Francis, V Petrovic, A Robertson, LM Webber, HR Slater
Journal article | 1999 | Journal of Medical Genetics
Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of un..
Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.
HR Slater, C Vaux, M Pertile, T Burgess, V Petrovic
Journal article | 1997 | Prenatal Diagnosis
Chorionic villus sampling (CVS) was performed on a 38-year-old woman at 10 weeks' gestation for advanced maternal age. Two long-te..
"Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.
DZ Loesch, V Petrovic, DI Francis, R Oertel, H Slater
Journal article | 1997 | Clinical Genetics
Apparent reduction in the size of the CGG repeat is reported from seven fragile-X mothers to nine offspring in seven extended fami..
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.
DZ Loesch, R Huggins, V Petrovic, H Slater
Journal article | 1995 | American Journal of Human Genetics
Analysis of 139 mother-to-offspring transmissions of fragile X CGG triplet repeats revealed that the repeat expansion is enhanced ..
Cytogenetic and DNA analysis of two neuroectodermal tumors without a simple t(11;22).
HR Slater, T Tiong, S Konstantakopoulos, C Sham, V Petrovic, L Voullaire, G Kannourakis
Journal article | 1995 | Cancer Genetics and Cytogenetics
Cytogenetic analysis was conducted on tumor biopsy material from two pediatric, small, round, blue-cell tumors whose histology fai..
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
H Slater, JH Shaw, G Dawson, A Bankier, SM Forrest
Journal article | 1994 | Journal of Medical Genetics
A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t..
Honours, Awards and Fellowships
HGSACC - Unknown
Paediatrics Royal Children'S Hospital