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Showing 1–7 of 7 results

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Research | 21 April 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
- Lisa G. Riley
- , Mark J. Cowley
- , Velimir Gayevskiy
- , Andre E. Minoche
- , Clare Puttick
- , David R. Thorburn
- , Rocio Rius
- , Alison G. Compton
- , Minal J. Menezes
- , Kaustuv Bhattacharya
- , David Coman
- , Carolyn Ellaway
- , Ian E. Alexander
- , Louisa Adams
- , Maina Kava
- , Jacqui Robinson
- , Carolyn M. Sue
- , Shanti Balasubramaniam
- & John Christodoulou
Genetics in Medicine 22 , 1254–1261

Rights & permissionsfor article The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease . Opens in a new window.
Research | 14 October 2019
The implementation of newborn screening for spinal muscular atrophy: the Australian experience
Genetics in Medicine 22 , 557–565

Rights & permissionsfor article The implementation of newborn screening for spinal muscular atrophy: the Australian experience . Opens in a new window.
Research | 29 May 2018 | Open
Blockade of HMGB1 Attenuates Diabetic Nephropathy in Mice
- Xiaochen Chen
- , Jin Ma
- , Tony Kwan
- , Elisabeth G. D. Stribos
- , A. Lianne Messchendorp
- , Yik W. Loh
- , Xiaoyu Wang
- , Moumita Paul
- , Eithne C. Cunningham
- , Miriam Habib
- , Ian E. Alexander
- , Alexandra F. Sharland
- , Steven J. Chadban
- & Huiling Wu
Scientific Reports 8 , 1–13

Rights & permissionsfor article Blockade of HMGB1 Attenuates Diabetic Nephropathy in Mice . Opens in a new window.
Research | 19 June 2017
Identification of liver-specific enhancer–promoter activity in the 3′ untranslated region of the wild-type AAV2 genome
- Grant J Logan
- , Allison P Dane
- , Claus V Hallwirth
- , Christine M Smyth
- , Emilie E Wilkie
- , Anais K Amaya
- , Erhua Zhu
- , Neeta Khandekar
- , Samantha L Ginn
- , Sophia H Y Liao
- , Sharon C Cunningham
- , Natsuki Sasaki
- , Martí Cabanes-Creus
- , Patrick P L Tam
- , David W Russell
- , Leszek Lisowski
- & Ian E Alexander
Nature Genetics 49 , 1267–1273

Rights & permissionsfor article Identification of liver-specific enhancer–promoter activity in the 3′ untranslated region of the wild-type AAV2 genome . Opens in a new window.
Research | 5 July 2016 | Open
Germline viral “fossils” guide in silico reconstruction of a mid-Cenozoic era marsupial adeno-associated virus
Scientific Reports 6 , 1–17

Rights & permissionsfor article Germline viral “fossils” guide <i>in silico</i> reconstruction of a mid-Cenozoic era marsupial adeno-associated virus . Opens in a new window.
Research | 5 October 2014
A genome-wide map of adeno-associated virus–mediated human gene targeting
- David R Deyle
- , R Scott Hansen
- , Anda M Cornea
- , Li B Li
- , Amber A Burt
- , Ian E Alexander
- , Richard S Sandstrom
- , John A Stamatoyannopoulos
- , Chia-Lin Wei
- & David W Russell
Nature Structural & Molecular Biology 21 , 969–975

Rights & permissionsfor article A genome-wide map of adeno-associated virus–mediated human gene targeting . Opens in a new window.
Research | 25 December 2013
Selection and evaluation of clinically relevant AAV variants in a xenograft liver model
- Leszek Lisowski
- , Allison P. Dane
- , Kirk Chu
- , Yue Zhang
- , Sharon C. Cunningham
- , Elizabeth M. Wilson
- , Sean Nygaard
- , Markus Grompe
- , Ian E. Alexander
- & Mark A. Kay
Nature 506 , 382–386

Rights & permissionsfor article Selection and evaluation of clinically relevant AAV variants in a xenograft liver model . Opens in a new window.

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Blockade of HMGB1 Attenuates Diabetic Nephropathy in Mice

Identification of liver-specific enhancer–promoter activity in the 3′ untranslated region of the wild-type AAV2 genome

Germline viral “fossils” guide in silico reconstruction of a mid-Cenozoic era marsupial adeno-associated virus

A genome-wide map of adeno-associated virus–mediated human gene targeting

Selection and evaluation of clinically relevant AAV variants in a xenograft liver model

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