Lesley Rawlings - Department of Genetics and Molecular Pathology, SA Pathology

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论文共 29 篇作者统计合作学者相似作者

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Rapid Validation of NLRP3 Gain-of-function Variants in Cryopyrin-Associated Periodic Syndromes

Alex Quach, Yunyu Lao,Alexander Troelnikov,Pravin Hissaria, Damien Chan, Amanda Wells, Abhijit Kulkarni,Lesley Rawlings,Nicola Poplawski,Antonio Ferrante

Journal of Allergy and Clinical Immunology (2025)

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Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis

Olivia Elieff,Lesley Rawlings, Cuong Pham, Samantha Mihalopoulos,Denae Henry, Keryn Simons,Heather Tapp

Hemoglobinno. 1 (2024): 30-33

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Identification of Monogenic Diabetes in an Australian Cohort Using the Exeter Maturity-Onset Diabetes of the Young (MODY) Probability Calculator and Next-Generation Sequencing Gene Panel Testing

Sunita M. C. De Sousa,Kathy H. C. Wu,Kevin Colclough,Lesley Rawlings,Andrew Dubowsky,Melissa Monnik,Nicola Poplawski,Hamish S. Scott,Michael Horowitz,David J. Torpy

ACTA DIABETOLOGICAno. 2 (2024): 181-188

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Extending the New Era of Genomic Testing into Pregnancy Management: A Proposed Model for Australian Prenatal Services

Alice Rogers, Lucas De Jong,Wendy Waters,Lesley H. Rawlings, Keryn Simons, Song Gao,Julien Soubrier,Rosalie Kenyon,Ming Lin,Rob King,David M. Lawrence,Peter Muller,Shannon Leblanc,Lesley McGregor,Suzanne C. E. H. Sallevelt,Jan Liebelt,Tristan S. E. Hardy,Janice M. Fletcher,Hamish S. Scott, Abhi Kulkarni,Christopher P. Barnett,Karin S. Kassahn

The Australian & New Zealand journal of obstetrics & gynaecologyno. 5 (2024): 467-474

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DCTA Triplets: a Fascinating Trip

Jennifer Phan, Lucas DeJong,Karin Kassahn,Cassandra Vakulin, Aygul Simsek,Lesley Rawlings,Andrew Dubowsky,Wendy Waters,Sui Yu,Tristan Hardy

Pathology (2024): S17-S18

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Recurrent Pneumothorax in a Case of Tenascin‐x Deficient Ehlers–Danlos Syndrome: Broadening the Phenotypic Spectrum

Renee Santoreneos,Cassandra Vakulin,Melissa Ellul,Lesley Rawlings,Tristan Hardy,Nicola Poplawski

American Journal of Medical Genetics Part A（2022）

引用2浏览0WOS引用

Clefting and Cancer: A Complex CDH1 Case

Jennifer Phan,Abhijit Kulkarni,Andrew Dubowsky,Lesley Rawlings,Kathryn Friend,Tristan Hardy,Sui Yu

Pathology（2022）

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Rapid Functional Assessment of a Suspected Pathogenic NLRP3 Gene Variant in a Family with a CAPS Phenotype

Alex Quach, Yunyu Lao,Lesley Rawlings,Nicola Poplawski,Antonio Ferrante

Pathology（2022）

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BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Dinusha Pandithan,Sonja Klebe,Grace McKavanagh,Lesley Rawlings,Sui Yu,Jillian Nicholl,Nicola Poplawski

Case Reports in Genetics (2022): 1-4

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Shariant Platform: Enabling Evidence Sharing Across Australian Clinical Genetic-Testing Laboratories to Support Variant Interpretation

Emma Tudini, James Andrews,David M. Lawrence,Sarah L. King-Smith,Naomi Baker, Leanne Baxter,John Beilby,Bruce Bennetts,Victoria Beshay, Michael Black,Tiffany F. Boughtwood,Kristian Brion,Pak Leng Cheong,Michael Christie,John Christodoulou,Belinda Chong, Kathy Cox,Mark R. Davis, Lucas Dejong,Marcel E. Dinger,Kenneth D. Doig,Evelyn Douglas,Andrew Dubowsky, Melissa Ellul,Andrew Fellowes,Katrina Fisk,Cristina Fortuno,Kathryn Friend, Renee L. Gallagher, Song Gao,Emma Hackett,Johanna Hadler,Michael Hipwell,Gladys Ho,Georgina Hollway,Amanda J. Hooper,Karin S. Kassahn,Rahul Krishnaraj,Chiyan Lau, Huong Le,Huei San Leong,Ben Lundie,Sebastian Lunke, Anthony Marty,Mary McPhillips,Lan T. Nguyen,Katia Nones, Kristen Palmer,John Pearson,Michael C. J. Quinn,Lesley H. Rawlings,Simon Sadedin, Louisa Sanchez,Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek,Julien Soubrier,Zornitza Stark,Bryony A. Thompson, U. James, Cassandra G. Vakulin, Amanda Wells,Cheryl A. Wise, Rick Woods,Andrew Ziolkowski,Marie-Jo Brion,Hamish S. Scott,Natalie P. Thorne, Amanda B. Spurdle

American journal of human genetics（2022）

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