M. Jackson

发表

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.

Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice.

J. Fletcher, S. Byers, C. Xian, 2018, Molecular genetics and metabolism.

Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells.

S. Gronthos, S. Byers, N. Rout-Pitt, 2015, Molecular genetics and metabolism.

Lentiviral-mediated gene therapy results in sustained expression of β-glucuronidase for up to 12 months in the gus(mps/mps) and up to 18 months in the gus(tm(L175F)Sly) mouse models of mucopolysaccharidosis type VII.

S. Byers, D. Anson, X. Kaidonis, 2014, Human gene therapy.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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.

Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.

J. Fletcher, E. Ranieri, S. Byers, 2020, Molecular genetics and metabolism.

Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice

S. Byers, A. Derrick-Roberts, M. Jackson, 2017, Diseases.

Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.

P. Scuffham, J. Atherton, C. Semsarian, 2021, International journal of cardiology.

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

M. Shaw, J. Gécz, C. Shoubridge, 2019, Life Science Alliance.

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 .

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

J. Noebels, C. Shoubridge, T. Mattiske, 2021, Neurobiology of Disease.

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

B. Baune, E. Jaehne, C. Shoubridge, 2017, Neurobiology of Disease.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

M. Cowley, M. Pinese, M. Dinger, 2023, Genome Biology.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

R. Stevenson, F. McKenzie, A. Nordgren, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Expanding the Phenotype of NUP85 Mutations beyond Nephrotic Syndrome to Primary Autosomal Recessive Microcephaly and Seckel Syndrome Spectrum Disorders

V. Tarabykin, B. Fahrenkrog, B. Kamien, 2021, Neuropediatrics.