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1 . Academic Journal
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
저자
by
Amali Mallawaarachchi
;
Erik Biros
;
Trudie Harris
;
Bruce Bennetts
;
Tiffany Boughtwood
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
P534: Piloting an Australian quality assurance program interpretive module for genomic testing
저자
by
Alicia Byrne
;
Dimitar Azmanov
;
Sze Chai
;
John Christodoulou
;
Matilda Haas
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101433- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
저자
by
Andre E. Minoche
;
Ben Lundie
;
Greg B. Peters
;
Thomas Ohnesorg
;
Mark Pinese
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients—The GENIE Study
저자
by
Lata Vadlamudi
;
Carmen Maree Bennett
;
Melanie Tom
;
Ghusoon Abdulrasool
;
Kristian Brion
, et al.
소스
Journal of Clinical Medicine, Vol 11, Iss 14, p 4238 (2022)
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7 .
The Q-IMPROvE (Queensland-IMplementation of PRecision Oncology in brEast cancer) pilot study
저자
by
Amy E McCart Reed
;
Therese McCurry
;
Georgina Hollway
;
Haidar Al-Saig
;
Vladimir Andelkovic
, et al.
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7 .
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
저자
by
Emma Tudini
;
James Andrews
;
David M. Lawrence
;
Sarah L. King-Smith
;
Naomi Baker
, et al.
소스
Am J Hum Genet
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7 .
Paediatric genomic testing: Navigating medicare rebatable genomic testing
저자
by
Tiffany Boughtwood
;
Gayathri Parasivam
;
Rani Sachdev
;
Michael Field
;
Sebastian Lunke
, et al.
소스
Journal of Paediatrics and Child Health
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7 .
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
저자
by
Andrew Mallett
;
Mark J. Cowley
;
Michel Tchan
;
Sarah R. Senum
;
Gopala K. Rangan
, et al.
소스
Eur J Hum Genet
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7 .
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
저자
by
Adam M. Bournazos
;
Lisa G. Riley
;
Shobhana Bommireddipalli
;
Lesley Ades
;
Lauren S. Akesson
, et al.
소스
Open Access (OpenAIRE)
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7 .
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
저자
by
Tony Roscioli
;
Ben Lundie
;
Nicole Schonrock
;
Mark Pinese
;
Sarah K. Kummerfeld
, et al.
소스
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Open Access (BioMed Central)
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