T. Mattiske

发表

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

J. Gécz, C. Shoubridge, C. Hii, 2018, PloS one.

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

J. Gécz, C. Shoubridge, G. Friocourt, 2016, Human molecular genetics.

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

L. Vissers, N. Thorne, C. Shoubridge, 2017, Human mutation.

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.

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

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

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

A. V. Vulto-van Silfhout, R. Pfundt, M. Shaw, 2020, Human mutation.

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

J. Gécz, C. Shoubridge, K. Kitamura, 2014, Human molecular genetics.

Challenges of "sticky" co-immunoprecipitation: polyalanine tract protein-protein interactions.

J. Gécz, C. Shoubridge, M. Tan, 2013, Methods in molecular biology.

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.

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

A. Spurdle, M. Haas, Emma Tudini, 2023, Journal of Medical Genetics.

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

J. Gécz, C. Shoubridge, K. Kitamura, 2014, Human molecular genetics.