Publications by authors named "Matilda R Jackson"

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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J McCabe, Sarah Beecroft, Matilda R Jackson

Genome Biol· May 2023

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Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.
Camille M Schubert, Matilda R Jackson, Christopher P Barnett, Hamish S Scott, Thomas Sullivan

Clin Genet· January 2026

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Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Mahalia S B Frank, Melissa K Bennett, Thuong T Ha, Lynette Moore, Peer Arts, Matilda R Jackson

Hum Genomics· November 2025

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Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.
Anya L Arthurs, Matilda R Jackson, Dylan McCullough, Hamish S Scott, Christopher P Barnett

Am J Obstet Gynecol· August 2025

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Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).
Jane Tiller, Keri Finlay, Evanthia O Madelli, Melissa Monnik, Matilda R Jackson

Eur J Hum Genet· April 2025

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The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rocio Rius, Alison G Compton, Naomi L Baker, Shanti Balasubramaniam, Stephanie Best, Matilda R Jackson

Genet Med· January 2025

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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Parvathy Venugopal, Peer Arts, Lucy C Fox, Annet Simons, Devendra K Hiwase, Matilda R Jackson

Blood Adv· July 2024

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Matilda R Jackson

Nat Med· January 2024

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Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Matilda R Jackson

Nat Med· July 2023

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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Matilda R Jackson

J Bone Miner Res· May 2023

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Matilda R Jackson

Nat Med· January 2023

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Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205].
Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, Wan Chin Liaw, XiaoDan Ding

Mol Genet Metab· January 2022

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Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ethiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, Thuong Ha, Yuval Salzberg, Matilda R Jackson

Hum Mol Genet· November 2021

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Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.
Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, Wan Chin Liaw, XiaoDan Ding

Mol Genet Metab· June 2021

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Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).
Karagh E Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R Jackson

Neurobiol Dis· June 2021

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Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Rachel Austin, Michael C J Quinn, Clifford Afoakwah, Alejandro Metke-Jimenez, Hugo Leroux, Matilda R Jackson

Int J Cardiol· May 2021

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Heterozygous loss of function of / leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica Hn Thai, Laura Määttänen

Life Sci Alliance· August 2019

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Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice.
Zhirui Jiang, Ainslie L K Derrick-Roberts, Matilda R Jackson, Charné Rossouw, Carmen E Pyragius

Mol Genet Metab· June 2018

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Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Matilda R Jackson, Kristie Lee, Tessa Mattiske, Emily J Jaehne, Ezgi Ozturk

Neurobiol Dis· September 2017

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Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Matilda R Jackson

Eur J Hum Genet· June 2017

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Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice.
Ainslie L K Derrick-Roberts, Matilda R Jackson, Carmen E Pyragius, Sharon Byers

Diseases· February 2017

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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.
Ainslie L K Derrick-Roberts, Carmen E Pyragius, Xenia M Kaidonis, Matilda R Jackson, Donald S Anson

Hum Gene Ther· September 2014

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