Jackie 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.

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.

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.

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.

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

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

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

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

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.

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.

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.

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.

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.

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 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.

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

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

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

J. Gécz, M. Partington, G. Turner, 2004, Clinical genetics.

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.

“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare

I. Strnadová, J. Scully, Joanne Danker, 2023, European Journal of Human Genetics.