Matilda R Jackson

发表

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.

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.

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.

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

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

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

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

Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

I. Scheffer, S. Berkovic, C. Shoubridge, 2019, American journal of medical genetics. Part A.

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.

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.

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.

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.

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.

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.