Sandaradura Sarah A - Kids Neurosci Ctr, Childrens Hosp Westmead

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论文共 38 篇作者统计合作学者相似作者

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Microduplications of ARID1A and ARID1B Cause a Novel Clinical and Epigenetic Distinct BAFopathy

GENETICS IN MEDICINE（2025）

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Navigating an Uninformative Genomic Test Result: A Practical Guide

Laura St Clair,Claire Wong, Christopher Elliot,Kristi J Jones,Margit Shah,Sarah Josephi-Taylor,Sarah Sandaradura,Lesley Adès,Janine Smith,Rani Sachdev,Alan Ma

Journal of paediatrics and child healthno. 3 (2025): 344-353

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Critically Unwell Infants and Children with Mitochondrial Disorders Diagnosed by Ultra-Rapid Genomic Sequencing

Megan Ball,Sophie E. Bouffer, Christopher B. Barnett,Mary-Louise Freckmann,Matthew F. Hunter,Benjamin Kamien,Karin S. Kassahn,Sebastian Lunke,Chirag Patel,Jason Pinner,Tony Roscioli,Sarah A. Sandaradura,Hamish S. Scott,Tiong Y. Tan,Mathew Wallis,Alison G. Compton,David R. Thorburn,Zornitza Stark,John Christodoulou

GENETICS IN MEDICINEno. 1 (2025)

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A National Education Program for Rapid Genomics in Pediatric Acute Care: Building Workforce Confidence, Competence and Capability

Giulia McCorkell,Amy Nisselle, Donna Halton,Sophie E. Bouffter,Chirag Patel,John Christodoulou, Fran Maher,Belinda McClaren,Gemma R. Brett,Sarah Sandaradura,Kirsten Boggs,Michelle G. de Silva,Fiona Lynch,Ivan Macciocca,Elly Lynch,Melissa Martyn,Stephanie Best,Zornitza Stark,Clara L. Gaff

GENETICS IN MEDICINEno. 10 (2024)

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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,Kristi J. Jones,Sarah Josephi-Taylor,Sarah A. Sandaradura,Lesley Ades,Robyn Jamieson,Nicole M. Rankin

JOURNAL OF PAEDIATRICS AND CHILD HEALTHno. 4-5 (2024): 118-124

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Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort

Kerith-Rae Dias,Rupendra Shrestha,Deborah Schofield,Carey-Anne Evans,Emily O'Heir,Ying Zhu,Futao Zhang, Krystle Standen,Ben Weisburd,Sarah L. Stenton,Alba Sanchis-Juan,Harrison Brand,Michael E. Talkowski,Alan Ma, Sondy Ghedia,Meredith Wilson,Sarah A. Sandaradura,Janine Smith,Benjamin Kamien,Anne Turner,Madhura Bakshi,Lesley C. Ades,David Mowat,Matthew Regan,George McGillivray,Ravi Savarirayan,Susan M. White,Tiong Yang Tan,Zornitza Stark,Natasha J. Brown,Luis A. Perez-Jurado,Emma Krzesinski,Matthew F. Hunter,Lauren Akesson,Andrew Paul Fennell,Alison Yeung,Tiffany Boughtwood,Lisa J. Ewans,Jennifer Kerkhof, Christopher Lucas,Louise Carey, Hugh French,Melissa Rapadas,Igor Stevanovski,Ira W. Deveson,Corrina Cliffe,George Elakis,Edwin P. Kirk,Tracy Dudding-Byth,Janice Fletcher,Rebecca Walsh,Mark A. Corbett,Thessa Kroes,Jozef Gecz,Cliff Meldrum,Simon Cliffe, Meg Wall,Sebastian Lunke,Kathryn North,David J. Amor, Michael Field,Bekim Sadikovic,Michael F. Buckley,Anne O'Donnell-Luria,Tony Roscioli

Genetics in medicine official journal of the American College of Medical Genetics（2024）

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Utilising a Differences of Sex Development Multidisciplinary Team Checklist to Streamline Investigations and Management for Patients with Complex Hypospadias

Amit Nagpure, Claire Sharpin,Grahame Smith,Sarah Sandaradura,Ann Maguire,Kristen Neville,Sarah Giutronich,Shubha Srinivasan,Aniruddh Deshpande

SEXUAL DEVELOPMENT (2024): 116-116

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Genome and RNA Sequencing Boost Neuromuscular Diagnoses to 62% from 34% with Exome Sequencing Alone

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYno. 5 (2024): 1250-1266

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Rapid Rare Disease Diagnosis on a National Scale: an Integrated Multi-Omic Approach

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 37-38

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