Accueil
Amali Mallawaarachchi
Amali Mallawaarachchi
Affiliations
Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Department of Medical genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Publications (13)
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
BMJ open
Avec:
Kushani Jayasinghe
,
Zornitza Stark
,
Chirag Patel
,
Amali Mallawaarachchi
,
Hugh McCarthy
,
Randall Faull
,
Aron Chakera
,
Madhivanan Sundaram
,
Matthew Jose
,
Peter Kerr
,
You Wu
,
Louise Wardrop
,
Ilias Goranitis
,
Stephanie Best
,
Melissa Martyn
,
Catherine Quinlan
,
Andrew J Mallett
Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Avec:
Grace Swart
,
Clare L Fraser
,
Meena Shingde
,
Elizabeth O Thompson
,
Amali Mallawaarachchi
,
Mitchell Lawlor
,
Kate Ahmad
,
Gabor M Halmagyi
Renal genetics in Australia: Kidney medicine in the genomic age.
Nephrology (Carlton, Vic.)
Avec:
Kushani Jayasinghe
,
Catherine Quinlan
,
Zornitza Stark
,
Chirag Patel
,
Amali Mallawaarachchi
,
Louise Wardrop
,
Peter G Kerr
,
Peter Trnka
,
Andrew J Mallett
,
Auteur inconnu
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.
NPJ genomic medicine
Avec:
Hope A Tanudisastro
,
Katherine Holman
,
Gladys Ho
,
Elizabeth Farnsworth
,
Katrina Fisk
,
Thet Gayagay
,
Emma Hackett
,
Gemma Jenkins
,
Rahul Krishnaraj
,
Tiffany Lai
,
Karen Wong
,
Chirag Patel
,
Amali Mallawaarachchi
,
Andrew J Mallett
,
Bruce Bennetts
,
Stephen I Alexander
,
Hugh J McCarthy
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study.
Genes
Avec:
Rosie O'Shea
,
Alasdair Wood
,
Chirag Patel
,
Hugh J McCarthy
,
Amali Mallawaarachchi
,
Catherine Quinlan
,
Cas Simons
,
Zornitza Stark
,
Andrew J Mallett
Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting.
Fetal diagnosis and therapy
Avec:
Remi Banuelos
,
Amali Mallawaarachchi
,
Helen Doyle
,
Ritu Mogra
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Clinical diabetes and endocrinology
Avec:
Xi May Zhen
,
Stephen M Twigg
,
Ted Wu
,
Eddy Tabet
,
Margaret J McGill
,
Maria Constantino
,
Amali Mallawaarachchi
,
Connie Luo
,
Senthil Thillainadesan
,
Yusof Rahman
,
Jencia Wong
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
Kidney international reports
Avec:
Kushani Jayasinghe
,
Catherine Quinlan
,
Andrew J Mallett
,
Peter G Kerr
,
Belinda McClaren
,
Amy Nisselle
,
Amali Mallawaarachchi
,
Kevan R Polkinghorne
,
Chirag Patel
,
Stephanie Best
,
Zornitza Stark
The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.
Frontiers in medicine
Avec:
Jacqueline Soraru
,
Sadia Jahan
,
Catherine Quinlan
,
Cas Simons
,
Louise Wardrop
,
Rosie O'Shea
,
Alasdair Wood
,
Amali Mallawaarachchi
,
Chirag Patel
,
Zornitza Stark
,
Andrew John Mallett
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Genome biology
Avec:
Patricia J Sullivan
,
Velimir Gayevskiy
,
Ryan L Davis
,
Marie Wong
,
Chelsea Mayoh
,
Amali Mallawaarachchi
,
Yvonne Hort
,
Mark J McCabe
,
Sarah Beecroft
,
Matilda R Jackson
,
Peer Arts
,
Andrew Dubowsky
,
Nigel Laing
,
Marcel E Dinger
,
Hamish S Scott
,
Emily Oates
,
Mark Pinese
,
Mark J Cowley
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Development (Cambridge, England)
Avec:
Lynelle K Jones
,
Rachel Lam
,
Karen K McKee
,
Maya Aleksandrova
,
John Dowling
,
Stephen I Alexander
,
Amali Mallawaarachchi
,
Denny L Cottle
,
Kieran M Short
,
Lynn Pais
,
Jeffery H Miner
,
Andrew J Mallett
,
Cas Simons
,
Hugh McCarthy
,
Peter D Yurchenco
,
Ian M Smyth
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Human mutation
Avec:
Hanyin Cheng
,
Simona Capponi
,
Emma Wakeling
,
Elaine Marchi
,
Quan Li
,
Mengge Zhao
,
Chunhua Weng
,
Piatek G Stefan
,
Helena Ahlfors
,
Robert Kleyner
,
Alan Rope
,
Aimé Lumaka
,
Prosper Lukusa
,
Koenraad Devriendt
,
Joris Vermeesch
,
Jennifer E Posey
,
Elizabeth E Palmer
,
Lucinda Murray
,
Eyby Leon
,
Jullianne Diaz
,
Lisa Worgan
,
Amalia Mallawaarachchi
,
Julie Vogt
,
Sonja A de Munnik
,
Lauren Dreyer
,
Gareth Baynam
,
Lisa Ewans
,
Zornitza Stark
,
Sebastian Lunke
,
Ana R Gonçalves
,
Gabriela Soares
,
Jorge Oliveira
,
Emily Fassi
,
Marcia Willing
,
Jeff L Waugh
,
Laurence Faivre
,
Jean-Baptiste Riviere
,
Sebastien Moutton
,
Shehla Mohammed
,
Katelyn Payne
,
Laurence Walsh
,
Amber Begtrup
,
Maria J Guillen Sacoto
,
Ganka Douglas
,
Nora Alexander
,
Michael F Buckley
,
Paul R Mark
,
Lesley C Adès
,
Sarah A Sandaradura
,
James R Lupski
,
Tony Roscioli
,
Pankaj B Agrawal
,
Antonie D Kline
,
Auteur inconnu
,
Kai Wang
,
H T Marc Timmers
,
Gholson J Lyon
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Adam M Bournazos
,
Lisa G Riley
,
Shobhana Bommireddipalli
,
Lesley Ades
,
Lauren S Akesson
,
Mohammad Al-Shinnag
,
Stephen I 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
,
Auteur inconnu
Réseau de co-auteurs
Zornitza Stark
7 collaborations
Chirag Patel
7 collaborations
Andrew J Mallett
6 collaborations
Catherine Quinlan
5 collaborations
Kushani Jayasinghe
3 collaborations
Louise Wardrop
3 collaborations
None None
3 collaborations
Stephen I Alexander
3 collaborations
Hugh J McCarthy
3 collaborations
Cas Simons
3 collaborations
Hugh McCarthy
2 collaborations
Stephanie Best
2 collaborations
Peter G Kerr
2 collaborations
Gladys Ho
2 collaborations
Bruce Bennetts
2 collaborations
Rosie O'Shea
2 collaborations
Alasdair Wood
2 collaborations
Elizabeth E Palmer
2 collaborations
Sebastian Lunke
2 collaborations
Michael F Buckley
2 collaborations
Sarah A Sandaradura
2 collaborations
Tony Roscioli
2 collaborations
Randall Faull
1 collaboration
Aron Chakera
1 collaboration
Madhivanan Sundaram
1 collaboration
Matthew Jose
1 collaboration
Peter Kerr
1 collaboration
You Wu
1 collaboration
Ilias Goranitis
1 collaboration
Melissa Martyn
1 collaboration
Grace Swart
1 collaboration
Clare L Fraser
1 collaboration
Meena Shingde
1 collaboration
Elizabeth O Thompson
1 collaboration
Mitchell Lawlor
1 collaboration
Kate Ahmad
1 collaboration
Gabor M Halmagyi
1 collaboration
Peter Trnka
1 collaboration
Hope A Tanudisastro
1 collaboration
Katherine Holman
1 collaboration
Elizabeth Farnsworth
1 collaboration
Katrina Fisk
1 collaboration
Thet Gayagay
1 collaboration
Emma Hackett
1 collaboration
Gemma Jenkins
1 collaboration
Rahul Krishnaraj
1 collaboration
Tiffany Lai
1 collaboration
Karen Wong
1 collaboration
Remi Banuelos
1 collaboration
Helen Doyle
1 collaboration
Ritu Mogra
1 collaboration
Xi May Zhen
1 collaboration
Stephen M Twigg
1 collaboration
Ted Wu
1 collaboration
Eddy Tabet
1 collaboration
Margaret J McGill
1 collaboration
Maria Constantino
1 collaboration
Connie Luo
1 collaboration
Senthil Thillainadesan
1 collaboration
Yusof Rahman
1 collaboration
Jencia Wong
1 collaboration
Belinda McClaren
1 collaboration
Amy Nisselle
1 collaboration
Kevan R Polkinghorne
1 collaboration
Jacqueline Soraru
1 collaboration
Sadia Jahan
1 collaboration
Andrew John Mallett
1 collaboration
Patricia J Sullivan
1 collaboration
Velimir Gayevskiy
1 collaboration
Ryan L Davis
1 collaboration
Marie Wong
1 collaboration
Chelsea Mayoh
1 collaboration
Yvonne Hort
1 collaboration
Mark J McCabe
1 collaboration
Sarah Beecroft
1 collaboration
Matilda R Jackson
1 collaboration
Peer Arts
1 collaboration
Andrew Dubowsky
1 collaboration
Nigel Laing
1 collaboration
Marcel E Dinger
1 collaboration
Hamish S Scott
1 collaboration
Emily Oates
1 collaboration
Mark Pinese
1 collaboration
Mark J Cowley
1 collaboration
Lynelle K Jones
1 collaboration
Rachel Lam
1 collaboration
Karen K McKee
1 collaboration
Maya Aleksandrova
1 collaboration
John Dowling
1 collaboration
Denny L Cottle
1 collaboration
Kieran M Short
1 collaboration
Lynn Pais
1 collaboration
Jeffery H Miner
1 collaboration
Peter D Yurchenco
1 collaboration
Ian M Smyth
1 collaboration
Hanyin Cheng
1 collaboration
Simona Capponi
1 collaboration
Emma Wakeling
1 collaboration
Elaine Marchi
1 collaboration
Quan Li
1 collaboration
Mengge Zhao
1 collaboration
Chunhua Weng
1 collaboration
Piatek G Stefan
1 collaboration
Helena Ahlfors
1 collaboration
Robert Kleyner
1 collaboration
Alan Rope
1 collaboration
Aimé Lumaka
1 collaboration
Prosper Lukusa
1 collaboration
Koenraad Devriendt
1 collaboration
Joris Vermeesch
1 collaboration
Jennifer E Posey
1 collaboration
Lucinda Murray
1 collaboration
Eyby Leon
1 collaboration
Jullianne Diaz
1 collaboration
Lisa Worgan
1 collaboration
Amalia Mallawaarachchi
1 collaboration
Julie Vogt
1 collaboration
Sonja A de Munnik
1 collaboration
Lauren Dreyer
1 collaboration
Gareth Baynam
1 collaboration
Lisa Ewans
1 collaboration
Ana R Gonçalves
1 collaboration
Gabriela Soares
1 collaboration
Jorge Oliveira
1 collaboration
Emily Fassi
1 collaboration
Marcia Willing
1 collaboration
Jeff L Waugh
1 collaboration
Laurence Faivre
1 collaboration
Jean-Baptiste Riviere
1 collaboration
Sebastien Moutton
1 collaboration
Shehla Mohammed
1 collaboration
Katelyn Payne
1 collaboration
Laurence Walsh
1 collaboration
Amber Begtrup
1 collaboration
Maria J Guillen Sacoto
1 collaboration
Ganka Douglas
1 collaboration
Nora Alexander
1 collaboration
Paul R Mark
1 collaboration
Lesley C Adès
1 collaboration
James R Lupski
1 collaboration
Pankaj B Agrawal
1 collaboration
Antonie D Kline
1 collaboration
Kai Wang
1 collaboration
H T Marc Timmers
1 collaboration
Gholson J Lyon
1 collaboration
Adam M Bournazos
1 collaboration
Lisa G Riley
1 collaboration
Shobhana Bommireddipalli
1 collaboration
Lesley Ades
1 collaboration
Lauren S Akesson
1 collaboration
Mohammad Al-Shinnag
1 collaboration
Alison D Archibald
1 collaboration
Shanti Balasubramaniam
1 collaboration
Yemima Berman
1 collaboration
Victoria Beshay
1 collaboration
Kirsten Boggs
1 collaboration
Jasmina Bojadzieva
1 collaboration
Natasha J Brown
1 collaboration
Samantha J Bryen
1 collaboration
Belinda Chong
1 collaboration
Mark R Davis
1 collaboration
Ruebena Dawes
1 collaboration
Martin Delatycki
1 collaboration
Liz Donaldson
1 collaboration
Lilian Downie
1 collaboration
Caitlin Edwards
1 collaboration
Matthew Edwards
1 collaboration
Amanda Engel
1 collaboration
Lisa J Ewans
1 collaboration
Fathimath Faiz
1 collaboration
Andrew Fennell
1 collaboration
Michael Field
1 collaboration
Mary-Louise Freckmann
1 collaboration
Lyndon Gallacher
1 collaboration
Russell Gear
1 collaboration
Himanshu Goel
1 collaboration
Shuxiang Goh
1 collaboration
Linda Goodwin
1 collaboration
Bernadette Hanna
1 collaboration
James Harraway
1 collaboration
Megan Higgins
1 collaboration
Bruce K Hopper
1 collaboration
Ari E Horton
1 collaboration
Matthew F Hunter
1 collaboration
Aamira J Huq
1 collaboration
Sarah Josephi-Taylor
1 collaboration
Himanshu Joshi
1 collaboration
Edwin Kirk
1 collaboration
Emma Krzesinski
1 collaboration
Kishore R Kumar
1 collaboration
Frances Lemckert
1 collaboration
Richard J Leventer
1 collaboration
Suzanna E Lindsey-Temple
1 collaboration
Alan Ma
1 collaboration
Steven Macaskill
1 collaboration
Melanie Marty
1 collaboration
Justine E Marum
1 collaboration
Manoj P Menezes
1 collaboration
Alison McLean
1 collaboration
Di Milnes
1 collaboration
Shekeeb Mohammad
1 collaboration
David Mowat
1 collaboration
Aram Niaz
1 collaboration
Shilpan G Patel
1 collaboration
Dean Phelan
1 collaboration
Jason R Pinner
1 collaboration
Sulekha Rajagopalan
1 collaboration
Matthew Regan
1 collaboration
Jonathan Rodgers
1 collaboration
Miriam Rodrigues
1 collaboration
Richard H Roxburgh
1 collaboration
Rani Sachdev
1 collaboration
Ruvishani Samarasekera
1 collaboration
Elena Savva
1 collaboration
Tim Schindler
1 collaboration
Margit Shah
1 collaboration
Ingrid B Sinnerbrink
1 collaboration
Janine M Smith
1 collaboration
Richard J Smith
1 collaboration
Amanda Springer
1 collaboration
Samuel P Strom
1 collaboration
Carolyn M Sue
1 collaboration
Kenneth Tan
1 collaboration
Tiong Y Tan
1 collaboration
Esther Tantsis
1 collaboration
Michel C Tchan
1 collaboration
Bryony A Thompson
1 collaboration
Alison H Trainer
1 collaboration
Karin van Spaendonck-Zwarts
1 collaboration
Rebecca Walsh
1 collaboration
Linda Warwick
1 collaboration
Stephanie White
1 collaboration
Susan M White
1 collaboration
Mark G Williams
1 collaboration
Meredith J Wilson
1 collaboration
Wui Kwan Wong
1 collaboration
Dale C Wright
1 collaboration
Patrick Yap
1 collaboration
Alison Yeung
1 collaboration
Helen Young
1 collaboration
Kristi J Jones
1 collaboration
Sandra T Cooper
1 collaboration