Kristi J Jones - Institute for Neuromuscular Research, The Children's Hospital at Westmead

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论文共 109 篇作者统计合作学者相似作者

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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders

Charli Ji,Didu S. Kariyawasam, Hugo Sampaio,Michelle Lorentzos,Kristi J. Jones,Michelle A. Farrar

The Lancet Regional Health - Western Pacific (2024): 101049-101049

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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Alan Ma, Timothy P Newing, Rosie O'Shea, Akira Gokoolparsadh, Emma Murdoch, Janette Hayward, Gillian Shannon, Lucy Kevin,Bruce Bennetts,Gladys Ho,Janine Smith, Margit Shah,

Journal of paediatrics and child health (2024)

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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Rhett G Marchant,Samantha J Bryen,Melanie Bahlo,Anita Cairns, Katherine R Chao, Alastair Corbett,Mark R Davis,Vijay S Ganesh,Roula Ghaoui,Kristi J Jones,Andrew J Kornberg,Monkol Lek,

Annals of clinical and translational neurology (2024)

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Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

Ursula Moore,Esther Fernández-Simón,Marianela Schiava,Dan Cox,Heather Gordish-Dressman,Meredith K James,Anna Mayhew,Ian Wilson,Michela Guglieri,Laura Rufibach,Andrew Blamire,Pierre G Carlier,

Neuromuscular Disordersno. 2 (2023): 199-207

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Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

Laura Llanso,Ursula Moore,Carla Bolano-Diaz,Meredith James,Andrew M. Blamire,Pierre G. Carlier,Laura Rufibach,Heather Gordish-Dressman, Georgina Boyle,Heather Hilsden,John W. Day,Kristi J. Jones,

NEUROMUSCULAR DISORDERSno. 4 (2023): 349-357

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The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

Joanne E. Davidson, Jacqueline S. Russell, Noelia Nunez Martinez,David R. Mowat,Kristi J. Jones,Edwin P. Kirk,Didu Kariyawasam,Michelle Farrar,Arlene D'Silva

Genesno. 7 (2023): 1403-1403

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Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

Michelle A Farrar,Didu Kariyawasam,Sarah Grattan,Klair Bayley,Mark Davis, Sandra Holland, Leigh B Waddel,Kristi Jones,Michelle Lorentzos,Anja Ravine,Tiffany Wotton,Veronica Wiley

J Neuromuscul Dis（2023）

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Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Ursula Moore,Roberto Fernandez‐Torron,Marni Jacobs,Heather Gordish‐Dressman,Jordi Diaz‐Manera,Meredith K. James,Anna G. Mayhew,Elizabeth Harris,Michela Guglieri,Laura E. Rufibach,Jia Feng,Andrew M. Blamire,

Muscle & Nerveno. 5 (2022)

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FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy

U. Moore, E. Fernandez Simon,J. Day,K. Jones,D. Bharucha-Goebel,A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, E. Bravver, E. Pegoraro,J. Mendell,

Neuromuscular Disorders (2022): S113-S113

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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

Didu Kariyawasam,Arlene D’Silva,David Mowat,Jacqui Russell,Hugo Sampaio,Kristi Jones,Peter Taylor,Michelle Farrar

Eur J Hum Genet（2022）

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