Mary-Louise Freckmann - Department of Clinical Genetics, The Canberra Hospital

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论文共 24 篇作者统计合作学者相似作者

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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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Standardized Practices for RNA Diagnostics Using Clinically Accessible Specimens Reclassifies 75% of Putative Splicing Variants

Adam M. Bournazos,Lisa G. Riley,Shobhana Bommireddipalli,Lesley Ades,Lauren S. Akesson,Mohammad Al-Shinnag,Stephen Alexander,Alison D. Archibald,Shanti Balasubramaniam,Yemima Berman,Victoria Beshay,Kirsten Boggs,Jasmina Bojadzieva,Natasha J. Brown,Samantha J. Bryen,Michael F. Buckley,Belinda Chong,Mark R. Davis,Ruebena Dawes,Martin Delatycki,Liz Donaldson,Lilian Downie,Caitlin Edwards,Matthew Edwards, Amanda Engel,Lisa J. Ewans,Fathimath Faiz,Andrew Fennell,Michael Field,Mary-Louise Freckmann,Lyndon Gallacher,Russell Gear,Himanshu Goel,Shuxiang Goh,Linda Goodwin,Bernadette Hanna,James Harraway,Megan Higgins,Gladys Ho,Bruce K. Hopper,Ari E. Horton,Matthew F. Hunter,Aamira J. Huq,Sarah Josephi-Taylor,Himanshu Joshi,Edwin Kirk,Emma Krzesinski,Kishore R. Kumar,Frances Lemckert,Richard J. Leventer,Suzanna E. Lindsey-Temple,Sebastian Lunke,Alan Ma, Steven Macaskill,Amali Mallawaarachchi,Melanie Marty,Justine E. Marum,Hugh J. McCarthy,Manoj P. Menezes,Alison McLean,Di Milnes,Shekeeb Mohammad,David Mowat,Aram Niaz,Elizabeth E. Palmer,Chirag Patel,Shilpan G. Patel,Dean Phelan,Jason R. Pinner,Sulekha Rajagopalan,Matthew Regan,Jonathan Rodgers,Miriam Rodrigues,Richard H. Roxburgh,Rani Sachdev,Tony Roscioli, Ruvishani Samarasekera,Sarah A. Sandaradura,Elena Savva,Tim Schindler,Margit Shah,Ingrid B. Sinnerbrink,Janine M. Smith,Richard J. Smith,Amanda Springer,Zornitza Stark,Samuel P. Strom,Carolyn M. Sue,Kenneth Tan,Tiong Y. Tan,Esther Tantsis,Michel C. Tchan,Bryony A. Thompson,Alison H. Trainer,Karin Van Spaendonck-Zwarts,Rebecca Walsh,Linda Warwick,Stephanie White,Susan M. White,Mark G. Williams,Meredith J. Wilson, Wui Kwan Wong,Dale C. Wright,Patrick Yap,Alison Yeung,Helen Young,Kristi J. Jones,Bruce Bennetts,Sandra T. Cooper

Genetics in medicineno. 1 (2022): 130-145

引用40浏览0WOS引用

Paediatric genomic testing: Navigating genomic reports for the general paediatrician

Margit Shah,Arthavan Selvanathan,Gareth Baynam,Yemima Berman,Tiffany Boughtwood,Mary-Louise Freckmann,Gayathri Parasivam, Susan M. White,Natalie Grainger,Edwin P. Kirk,Alan S. L. Ma,Rani Sachdev

JOURNAL OF PAEDIATRICS AND CHILD HEALTH（2022）

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Paediatric genomic testing: Navigating medicare rebatable genomic testing

Rani Sachdev,Mike Field,Gareth S. Baynam,John Beilby, Maria Berarducci,Yemima Berman,Tiffany Boughtwood,Marie B. Cusack, Vanessa Fitzgerald,Jeffery Fletcher,Mary-Louise Freckmann,Natalie Grainger,Edwin Kirk,Ben Lundie,Sebastian Lunke,Lesley McGregor,David Mowat,Gayathri Parasivam,Vanessa Tyrell,Mathew Wallis, Susan M. White,Alan S. L. Ma

JOURNAL OF PAEDIATRICS AND CHILD HEALTH（2021）

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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med（2021）

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh,Natasha Jones,Brigitte Vanle,Margaret Au,Alden Y. Huang,Ana P. G. Silva,Hane Lee,Emilie D. Douine,Maria G. Otero, Andrew Choi,Katheryn Grand,Ingrid P. Taff,Mauricio R. Delgado,M. J. Hajianpour,Andrea Seeley,Luis Rohena,Hilary Vernon,Karen W. Gripp,Samantha A. Vergano,Sonal Mahida,Sakkubai Naidu,Ana Berta Sousa,Karen E. Wain,Thomas D. Challman,Geoffrey Beek,Donald Basel,Judith Ranells,Rosemarie Smith,Roman Yusupov,Mary-Louise Freckmann,Lisa Ohden,Laura Davis-Keppen,David Chitayat,James J. Dowling,Richard Finkel,Andrew Dauber,Rebecca Spillmann,Loren D. M. Pena,Kay Metcalfe,Miranda Splitt,Katherine Lachlan,Shane A. McKee,Jane Hurst,David R. Fitzpatrick,Jenny E. V. Morton,Helen Cox,Sunita Venkateswaran,Juan I. Young,Eric D. Marsh,Stanley F. Nelson,Julian A. Martinez,John M. Graham,Usha Kini,Joel P. Mackay,Tyler Mark Pierson

GENETICS IN MEDICINE (2020)

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh,Natasha Jones,Brigitte Vanle,Margaret Au,Alden Y Huang,Ana P G Silva,Hane Lee,Emilie D Douine,Maria G Otero,Andrew Choi,Katheryn Grand,Ingrid P Taff,Mauricio R Delgado,M J Hajianpour,Andrea Seeley,Luis Rohena,Hilary Vernon,Karen W Gripp,Samantha A Vergano,Sonal Mahida,Sakkubai Naidu,Ana Berta Sousa,Karen E Wain,Thomas D Challman,Geoffrey Beek,Donald Basel,Judith Ranells,Rosemarie Smith,Roman Yusupov,Mary-Louise Freckmann,Lisa Ohden,Laura Davis-Keppen,David Chitayat,James J Dowling,Richard Finkel,Andrew Dauber,Rebecca Spillmann,Loren D M Pena,Undiagnosed Diseases Network,Kay Metcalfe,Miranda Splitt,Katherine Lachlan,Shane A McKee,Jane Hurst,David R Fitzpatrick,Jenny E V Morton,Helen Cox,Sunita Venkateswaran,Juan I Young,Eric D Marsh,Stanley F Nelson,Julian A Martinez,John M Graham,Usha Kini,Joel P Mackay,Tyler Mark Pierson

Genetics in medicine : official journal of the American College of Medical Geneticsno. 4 (2020): 822-822

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