J. Boyle

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.

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

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

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Tao Wang, Gavin Rumbaugh, Lilei Zhang, 2007, Proceedings of the National Academy of Sciences.

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

J. Gécz, P. Marynen, H. Ropers, 2007, Human Genetics.

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

J. Fleming, K. Barlow-Stewart, J. Boyle, 2020, Journal of genetic counseling.

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.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

M. Shaw, J. Gécz, M. Stratton, 2010, European Journal of Human Genetics.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

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

Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in ARX

J. Gécz, G. Turner, J. Boyle, 2004, Clinical 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.

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.

Restoring reproductive confidence in families with X‐linked mental retardation by finding the causal mutation

J. Gécz, G. Turner, B. Kerr, 2007, Clinical 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.

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

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

Maternal attitudes to newborn screening for fragile X syndrome

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

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Australian human research ethics committee members’ confidence in reviewing genomic research applications

J. Boyle, C. Jacobs, A. McInerney-Leo, 2021, European Journal of Human Genetics.

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

J. Boyle, D. Vears, A. Newson, 2020, Twin Research and Human Genetics.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

J. Gécz, P. Palta, H. Ropers, 2007, European journal of 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.

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

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

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

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

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions

J. Boyle, D. Vears, A. Newson, 2023, Twin Research and Human Genetics.

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

J. Boyle, A. Newson, M. Gabbett, 2018, Twin Research and 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.

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.