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

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

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

E Eisenbaum

Conference Proceedings  |  2018  |  Journal of Intellectual Disability Research

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

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

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

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

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

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

beta-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

CM Kraan, KM Cornish, QM Bui, X Li, HR Slater, DE Godler

Journal article  |  2016  |  Scientific Reports

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

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Zornitza Stark, David Francis, Lydia Gaffney, Jacqueline Greenberg, Louise Hills, Xin Li, David E Godler, Howard R Slater

Journal article  |  2015  |  American Journal of Medical Genetics Part A

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

Methylation Analysis in Newborn Screening for Fragile X Syndrome

David E Godler, David J Amor, Howard R Slater

Journal article  |  2014  |  JAMA Neurology

Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Terence P Speed, Howard R Slater, Melanie Bahlo

Journal article  |  2014  |  PLoS One

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

New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

DZ Loesch, F Tassone, J Lo, HR Slater, LV Hills, MQ Bui, PA Silburn, GD Mellick

Journal article  |  2013  |  Clinical Genetics

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

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants Reply

G McGillivray, DL Bruno, HR Slater, DJ Amor

Journal article  |  2013  |  BJOG

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

White Matter Changes in Basis Pontis in Small Expansion FMR1 Allele Carriers With Parkinsonism

DZ Loesch, K Kotschet, N Trost, CM Greco, G Kinsella, HR Slater, A Venn, M Horne

Journal article  |  2011  |  American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics

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

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome

David E Godler, Howard R Slater, David Amor, Danuta Z Loesch

Journal article  |  2010  |  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..

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

DZ Loesch, MS Khaniani, HR Slater, JP Rubio, QM Bui, K Kotschet, W D'Souza, A Venn, P Kalitsis, AKH Choo, T Burgess, L Johnson, A Evans, M Horne

Journal article  |  2009  |  Clinical Genetics

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

Alison Yeung, Damien Bruno, Ingrid E Scheffer, Daniel Carranza, Trent Burgess, Howard R Slater, David J Amor

Journal article  |  2009  |  European Journal of Medical Genetics

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

Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion

K Prabhakara, Damien L Bruno, Priya Padman, Suma Prasad, R Sudheer Kumar, Howard R Slater, A Radha Ramadevi

Journal article  |  2008  |  Prenatal Diagnosis

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

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome

Peter Kannu, Paul Oei, Howard R Slater, Ouda Khammy, Salim Aftimos

Journal article  |  2006  |  American Journal of Medical Genetics, Part A

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome

Peter Kannu, Paul Oei, Howard R Slater, Ouda Khammy, Salim Aftimos

Journal article  |  2006  |  American Journal of Medical Genetics

Estimated haplotype counts from case-control samples cannot be treated as observed counts - Reply

HR Slater, DK Bailey, H Ren, MQ Cao, K Bell, S Nasioulas, R Henke, KHA Choo, GC Kennedy

Journal article  |  2006  |  The American Journal of Human Genetics

Effect of Turner's syndrome and X-linked imprinting on cognitive status: Analysis based on pedigree data (vol 27, pg 494, 2005)

DZ Loesch, QM Bui, W Kelso, RM Huggins, H Slater, G Warne, PB Bergman, C Rodda, RJ Mitchell, M Prior

Journal article  |  2006  |  Brain and Development

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu Syndrome

TY Tan, A Bankier, HR Slater, EL Northrop, M Zacharin, R Savarirayan

Journal article  |  2005  |  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

FMR1 alleles in Tasmania: a screening study of the special educational needs population

RJ Mitchell, JJA Holden, C Zhang, Y Curlis, HR Slater, T Burgess, KC Kirkby, A Carmichael, KD Heading, DZ Loesch

Journal article  |  2005  |  Clinical Genetics

Human centromere repositioning "in progress"

DJ Amor, K Bentley, J Ryan, J Perry, L Wong, H Slater, KHA Choo

Journal article  |  2004  |  Proceedings of the National Academy of Sciences of the United States of America

Centric fission - simple and complex mechanisms

J Perry, HR Slater, KHA Choo

Journal article  |  2004  |  Chromosome Research

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method

H Slater, D Bruno, H Ren, P La, T Burgess, L Hills, S Nouri, J Schouten, KHA Choo

Journal article  |  2004  |  Human Mutation

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)

HR Slater, DL Bruno, H Ren, M Pertile, JP Schouten, KHA Choo

Journal article  |  2003  |  Journal of Medical Genetics

Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: a study using cross-species colour segmenting (RxFISH)

LV Hills, S Nouri, HR Slater

Journal article  |  2003  |  Chromosome Research

Karyotype, phenotype and parental origin in 19 cases of triploidy

A Daniel, ZH Wu, B Bennetts, H Slater, R Osborn, J Jackson, V Pupko, J Nelson, G Watson, C Cooke-Yarborough, C Loo

Journal article  |  2001  |  Prenatal Diagnosis

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

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

L Voullaire, R Saffery, E Earle, DV Irvine, H Slater, S Dale, D du Sart, T Fleming, KHA Choo

Journal article  |  2001  |  American Journal of Medical Genetics

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..

Identification of small FRAXA premutations.

D Francis, T Burgess, J Mitchell, H Slater

Journal article  |  2000  |  Molecular Diagnosis

BACKGROUND: Diagnosis of fragile X syndrome in mentally retarded individuals is satisfactorily achieved using a Southern blot test..

Chromosomal duplication of band 10p14 segregating through four generations.

L Voullaire, RJ Gardner, C Vaux, A Robertson, R Oertel, H Slater

Journal article  |  2000  |  Journal of Medical Genetics

Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization

L Voullaire, H Slater, R Williamson, L Wilton

Journal article  |  2000  |  Human Genetics

Neocentromere formation in a stable ring 1p32-p36.1 chromosome

HR Slater, S Nouri, E Earle, AWI Lo, LG Hale, KHA Choo

Journal article  |  1999  |  Journal of Medical Genetics

Detection of aneuploidy in single cells using comparative genomic hybridization

L Voullaire, L Wilton, H Slater, R Williamson

Journal article  |  1999  |  Prenatal Diagnosis

Trisomy 20p resulting from inverted duplication and neocentromere formation

L Voullaire, R Saffery, J Davies, E Earle, P Kalitsis, H Slater, DV Irvine, KHA Choo

Journal article  |  1999  |  American Journal of Medical Genetics

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..

High frequency of t(12;21) in childhood acute lymphoblastic leukemia detected by RT-PCR

DJ Amor, EM Algar, HR Slater, PJ Smith

Journal article  |  1998  |  Pathology

The fragile X syndrome.

N Lennox, J Cohen, H Slater, A Cook

Journal article  |  1998  |  Australian family physician

Fragile X syndrome (FXS) is the most common cause known of inherited developmental disability. New and widely available techniques..

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..

Prader-Willi syndrome.

N Lennox, A Cook, H Slater

Journal article  |  1997  |  Australian family physician

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 ..

PRIMARY CUTANEOUS EWINGS-SARCOMA PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMORS IN CHILDHOOD - A MOLECULAR, CYTOGENETIC, AND IMMUNOHISTOCHEMICAL STUDY

CS LEE, MC SOUTHEY, H SLATER, AW AULDIST, CW CHOW, DJ VENTER

Journal article  |  1995  |  Diagnostic Molecular Pathology

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..

UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.

H Slater, JH Shaw, A Bankier, SM Forrest, G Dawson

Journal article  |  1995  |  Journal of Medical Genetics

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..

CONFIRMATION OF TRISOMY-22 IN 2 CASES USING CHROMOSOME PAINTING - COMPARISON WITH T(11-22)

HR SLATER, LE VOULLAIRE, CE VAUX, A BANKIER, M PERTILE, KHA CHOO

Journal article  |  1993  |  American Journal of Medical Genetics

A FUNCTIONAL MARKER CENTROMERE WITH NO DETECTABLE ALPHA-SATELLITE, SATELLITE-III, OR CENP-B PROTEIN - ACTIVATION OF A LATENT CENTROMERE

LE VOULLAIRE, HR SLATER, V PETROVIC, KHA CHOO

Journal article  |  1993  |  American Journal of Human Genetics

ABSENCE OF SATELLITE-III DNA IN THE CENTROMERE AND THE PROXIMAL LONG-ARM REGION OF HUMAN CHROMOSOME-14 - ANALYSIS OF A 14P- VARIANT

E EARLE, LE VOULLAIRE, L HILLS, H SLATER, KHA CHOO

Journal article  |  1992  |  Cytogenetic and Genome Research

Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities.

HR Slater, A Robb, LA Forsyth, DA Hamilton, MC Clark, CA Galloway

Journal article  |  1988  |  Journal of Medical Genetics