M. Field

发表

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

B. V. van Bon, K. Friend, M. Shaw, 2015, American journal of human genetics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability

T. Roscioli, R. Tanton, N. Kasparian, 2020, International Journal of Microsimulation.

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Courtney E. French, D. Grozeva, F. Raymond, 2019, Front. Genet..

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

K. Friend, E. Haan, J. Gécz, 2012, Molecular Psychiatry.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

I. Scheffer, M. Cowley, M. Dinger, 2017, European Journal of Human Genetics.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

D. Marsh, M. Field, E. Kirk, 2002, Journal of medical genetics.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation

M. Stratton, R. Wooster, S. Edkins, 2006, Clinical genetics.

X‐linked intellectual disability: Phenotypic expression in carrier females

M. Shaw, J. Gécz, R. Stevenson, 2019, Clinical genetics.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

M. Field, D. Francis, D. Amor, 2020, International journal of molecular sciences.

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

J. Boyle, M. Field, B. Wilcken, 2018, International journal of neonatal screening.

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

O. Žilina, K. Kuuse, K. Õunap, 2016, European journal of medical genetics.

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

T. Dudding-Byth, D. Phelan, M. Field, 2019, International journal of molecular sciences.

Fragile X protein in newborn dried blood spots

W. Brown, G. Lafauci, M. Field, 2014, BMC Medical Genetics.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

New insights into Brunner syndrome and potential for targeted therapy

M. Shaw, J. Gécz, S. Haas, 2016, Clinical genetics.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)

M. Field, K. Kumar, C. Kraan, 2021, Journal of Medical Genetics.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

V. Faundes, M. Field, D. Francis, 2022, American journal of medical genetics. Part A.

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

J. Gécz, C. Schwartz, Yang Shi, 2015, Human molecular genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

M. Cowley, M. Dinger, T. Roscioli, 2018, Genetics in Medicine.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

M. Shaw, J. Gécz, M. Stratton, 2010, Nature Genetics.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

A ubiquitin-dependent signaling axis specific for ALKBH-mediated DNA dealkylation repair

Meagan E. Sullender, J. Gécz, C. Wolberger, 2017, Nature.

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

D. Loesch, J. Hopper, C. Skinner, 2014, Clinical chemistry.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

J. Gécz, A. Addington, J. Rapoport, 2012, Molecular Psychiatry.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

Maternal attitudes to newborn screening for fragile X syndrome

J. Boyle, M. Field, J. Hansen, 2013, American journal of medical genetics. Part A.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome

V. Faundes, Alexandra Ure, M. Field, 2020, Scientific Reports.

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

V. Faundes, K. Cornish, M. Field, 2019, Molecular Autism.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human genetics.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

K. Friend, M. Shaw, J. Gécz, 2018, Human molecular genetics.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

Diagnosis of Proteus syndrome was correct

D. Marsh, M. Field, E. Kirk, 2004, American journal of medical genetics. Part A.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

C. Skinner, M. Butler, M. Field, 2022, JAMA network open.

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

J. Slee, M. Butler, M. Field, 2020, Translational Psychiatry.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

K. Friend, M. Shaw, J. Gécz, 2007, American journal of human genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

K. Friend, I. Scheffer, M. Shaw, 2012, European Journal of Human Genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.

K. Hirschhorn, P. Warburton, R. Mahmood, 2002, American journal of medical genetics.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Venlafaxine Hyponatraemia: Incidence, Mechanism and Management

M. Field, E. Hibbert, M. Roxanas, 2007, The Australian and New Zealand journal of psychiatry.

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

C. Shoubridge, M. Field, L. Jolly, 2017, Translational Psychiatry.

dosage of IQSEC 2 , a known intellectual disability and epilepsy gene , disrupts dendritic spine morphogenesis

C. Shoubridge, M. Field, L. Jolly, 2017 .

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

J. Gécz, C. Marshall, M. Tarnopolsky, 2020, Frontiers in Molecular Neuroscience.

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

T. Roscioli, M. Field, E. Palmer, 2022, Movement disorders clinical practice.

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

D. Baralle, S. Mansour, K. Lachlan, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

J. Gécz, C. Schwartz, C. Shoubridge, 2012, European Journal of Human Genetics.

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

M. Bamshad, C. Skinner, K. Artinger, 2022, medRxiv.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.