Accueil
L Ewans
L Ewans
Affiliations
Centre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia.
Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia.
Publications (8)
Ophthalmic genetics
Avec:
Dhimas H Sakti
,
Elisa E Cornish
,
Nina Mustafic
,
Afsah Zaheer
,
Stephanie Retsas
,
Sulekha Rajagopalan
,
Clara Wt Chung
,
Lisa Ewans
,
Peter McCluskey
,
Benjamin M Nash
,
Robyn V Jamieson
,
John R Grigg
medRxiv : the preprint server for health sciences
Avec:
Yuyang Chen
,
Ruebena Dawes
,
Hyung Chul Kim
,
Sarah L Stenton
,
Susan Walker
,
Alicia Ljungdahl
,
Jenny Lord
,
Vijay S Ganesh
,
Jialan Ma
,
Alexandra C Martin-Geary
,
Gabrielle Lemire
,
Elston N D'Souza
,
Shan Dong
,
Jamie M Ellingford
,
David R Adams
,
Kirsten Allan
,
Madhura Bakshi
,
Erin E Baldwin
,
Seth I Berger
,
Jonathan A Bernstein
,
Natasha J Brown
,
Lindsay C Burrage
,
Kimberly Chapman
,
Alison G Compton
,
Chloe A Cunningham
,
Precilla D'Souza
,
Emmanuèle C Délot
,
Kerith-Rae Dias
,
Ellen R Elias
,
Carey-Anne Evans
,
Lisa Ewans
,
Kimberly Ezell
,
Jamie L Fraser
,
Lyndon Gallacher
,
Casie A Genetti
,
Christina L Grant
,
Tobias Haack
,
Alma Kuechler
,
Seema R Lalani
,
Elsa Leitão
,
Anna Le Fevre
,
Richard J Leventer
,
Jan E Liebelt
,
Paul J Lockhart
,
Alan S Ma
,
Ellen F Macnamara
,
Taylor M Maurer
,
Hector R Mendez
,
Stephen B Montgomery
,
Marie-Cécile Nassogne
,
Serena Neumann
,
Melanie O'Leary
,
Elizabeth E Palmer
,
John Phillips
,
Georgia Pitsava
,
Ryan Pysar
,
Heidi L Rehm
,
Chloe M Reuter
,
Nicole Revencu
,
Angelika Riess
,
Rocio Rius
,
Lance Rodan
,
Tony Roscioli
,
Jill A Rosenfeld
,
Rani Sachdev
,
Cas Simons
,
Sanjay M Sisodiya
,
Penny Snell
,
Laura St Clair
,
Zornitza Stark
,
Tiong Yang Tan
,
Natalie B Tan
,
Suzanna El Temple
,
David R Thorburn
,
Cynthia J Tifft
,
Eloise Uebergang
,
Grace E VanNoy
,
Eric Vilain
,
David H Viskochil
,
Laura Wedd
,
Matthew T Wheeler
,
Susan M White
,
Monica Wojcik
,
Lynne A Wolfe
,
Zoe Wolfenson
,
Changrui Xiao
,
David Zocche
,
John L Rubenstein
,
Eirene Markenscoff-Papadimitriou
,
Sebastian M Fica
,
Diana Baralle
,
Christel Depienne
,
Daniel G MacArthur
,
Joanna Mm Howson
,
Stephan J Sanders
,
Anne O'Donnell-Luria
,
Nicola Whiffin
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
AJNR. American journal of neuroradiology
Avec:
B J Halliday
,
G Baynam
,
L Ewans
,
L Greenhalgh
,
R J Leventer
,
D T Pilz
,
R Sachdev
,
I E Scheffer
,
D M Markie
,
G McGillivray
,
S P Robertson
,
S Mandelstam
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
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
The Journal of molecular diagnostics : JMD
Avec:
Samantha Leigh Sundercombe
,
Marina Berbic
,
Carey-Anne Evans
,
Corrina Cliffe
,
George Elakis
,
Suzanna E L Temple
,
Arthavan Selvanathan
,
Lisa Ewans
,
Nila Quayum
,
Cheng-Yee Nixon
,
Kerith-Rae Dias
,
Sarah Lang
,
Anna Richards
,
Shuxiang Goh
,
Meredith Wilson
,
David Mowat
,
Rani Sachdev
,
Sarah Sandaradura
,
Maie Walsh
,
Michelle A Farrar
,
Rebecca Walsh
,
Janice Fletcher
,
Edwin P Kirk
,
Guus M Teunisse
,
Deborah Schofield
,
Michael Francis Buckley
,
Ying Zhu
,
Tony Roscioli
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Nature
Avec:
Yuyang Chen
,
Ruebena Dawes
,
Hyung Chul Kim
,
Alicia Ljungdahl
,
Sarah L Stenton
,
Susan Walker
,
Jenny Lord
,
Gabrielle Lemire
,
Alexandra C Martin-Geary
,
Vijay S Ganesh
,
Jialan Ma
,
Jamie M Ellingford
,
Erwan Delage
,
Elston N D'Souza
,
Shan Dong
,
David R Adams
,
Kirsten Allan
,
Madhura Bakshi
,
Erin E Baldwin
,
Seth I Berger
,
Jonathan A Bernstein
,
Ishita Bhatnagar
,
Ed Blair
,
Natasha J Brown
,
Lindsay C Burrage
,
Kimberly Chapman
,
David J Coman
,
Alison G Compton
,
Chloe A Cunningham
,
Precilla D'Souza
,
Petr Danecek
,
Emmanuèle C Délot
,
Kerith-Rae Dias
,
Ellen R Elias
,
Frances Elmslie
,
Care-Anne Evans
,
Lisa Ewans
,
Kimberly Ezell
,
Jamie L Fraser
,
Lyndon Gallacher
,
Casie A Genetti
,
Anne Goriely
,
Christina L Grant
,
Tobias Haack
,
Jenny E Higgs
,
Anjali G Hinch
,
Matthew E Hurles
,
Alma Kuechler
,
Katherine L Lachlan
,
Seema R Lalani
,
François Lecoquierre
,
Elsa Leitão
,
Anna Le Fevre
,
Richard J Leventer
,
Jan E Liebelt
,
Sarah Lindsay
,
Paul J Lockhart
,
Alan S Ma
,
Ellen F Macnamara
,
Sahar Mansour
,
Taylor M Maurer
,
Hector R Mendez
,
Kay Metcalfe
,
Stephen B Montgomery
,
Mariya Moosajee
,
Marie-Cécile Nassogne
,
Serena Neumann
,
Michael O'Donoghue
,
Melanie O'Leary
,
Elizabeth E Palmer
,
Nikhil Pattani
,
John Phillips
,
Georgia Pitsava
,
Ryan Pysar
,
Heidi L Rehm
,
Chloe M Reuter
,
Nicole Revencu
,
Angelika Riess
,
Rocio Rius
,
Lance Rodan
,
Tony Roscioli
,
Jill A Rosenfeld
,
Rani Sachdev
,
Charles J Shaw-Smith
,
Cas Simons
,
Sanjay M Sisodiya
,
Penny Snell
,
Laura St Clair
,
Zornitza Stark
,
Helen S Stewart
,
Tiong Yang Tan
,
Natalie B Tan
,
Suzanna E L Temple
,
David R Thorburn
,
Cynthia J Tifft
,
Eloise Uebergang
,
Grace E VanNoy
,
Pradeep Vasudevan
,
Eric Vilain
,
David H Viskochil
,
Laura Wedd
,
Matthew T Wheeler
,
Susan M White
,
Monica Wojcik
,
Lynne A Wolfe
,
Zoe Wolfenson
,
Caroline F Wright
,
Changrui Xiao
,
David Zocche
,
John L Rubenstein
,
Eirene Markenscoff-Papadimitriou
,
Sebastian M Fica
,
Diana Baralle
,
Christel Depienne
,
Daniel G MacArthur
,
Joanna M M Howson
,
Stephan J Sanders
,
Anne O'Donnell-Luria
,
Nicola Whiffin
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Pei Dai
,
Andrew Honda
,
Lisa Ewans
,
Julie McGaughran
,
Leslie Burnett
,
Matthew Law
,
Tri Giang Phan
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
Orphanet journal of rare diseases
Avec:
Ela Curic
,
Lisa Ewans
,
Ryan Pysar
,
Fulya Taylan
,
Lorenzo D Botto
,
Ann Nordgren
,
William Gahl
,
Elizabeth Emma Palmer
Réseau de co-auteurs
Lisa Ewans
7 collaborations
Tony Roscioli
4 collaborations
Kerith-Rae Dias
3 collaborations
Elizabeth E Palmer
3 collaborations
Ryan Pysar
3 collaborations
Rani Sachdev
3 collaborations
Zornitza Stark
3 collaborations
Yuyang Chen
2 collaborations
Ruebena Dawes
2 collaborations
Hyung Chul Kim
2 collaborations
Sarah L Stenton
2 collaborations
Susan Walker
2 collaborations
Alicia Ljungdahl
2 collaborations
Jenny Lord
2 collaborations
Vijay S Ganesh
2 collaborations
Jialan Ma
2 collaborations
Alexandra C Martin-Geary
2 collaborations
Gabrielle Lemire
2 collaborations
Elston N D'Souza
2 collaborations
Shan Dong
2 collaborations
Jamie M Ellingford
2 collaborations
David R Adams
2 collaborations
Kirsten Allan
2 collaborations
Madhura Bakshi
2 collaborations
Erin E Baldwin
2 collaborations
Seth I Berger
2 collaborations
Jonathan A Bernstein
2 collaborations
Natasha J Brown
2 collaborations
Lindsay C Burrage
2 collaborations
Kimberly Chapman
2 collaborations
Alison G Compton
2 collaborations
Chloe A Cunningham
2 collaborations
Precilla D'Souza
2 collaborations
Emmanuèle C Délot
2 collaborations
Ellen R Elias
2 collaborations
Carey-Anne Evans
2 collaborations
Kimberly Ezell
2 collaborations
Jamie L Fraser
2 collaborations
Lyndon Gallacher
2 collaborations
Casie A Genetti
2 collaborations
Christina L Grant
2 collaborations
Tobias Haack
2 collaborations
Alma Kuechler
2 collaborations
Seema R Lalani
2 collaborations
Elsa Leitão
2 collaborations
Anna Le Fevre
2 collaborations
Richard J Leventer
2 collaborations
Jan E Liebelt
2 collaborations
Paul J Lockhart
2 collaborations
Alan S Ma
2 collaborations
Ellen F Macnamara
2 collaborations
Taylor M Maurer
2 collaborations
Hector R Mendez
2 collaborations
Stephen B Montgomery
2 collaborations
Marie-Cécile Nassogne
2 collaborations
Serena Neumann
2 collaborations
Melanie O'Leary
2 collaborations
John Phillips
2 collaborations
Georgia Pitsava
2 collaborations
Heidi L Rehm
2 collaborations
Chloe M Reuter
2 collaborations
Nicole Revencu
2 collaborations
Angelika Riess
2 collaborations
Rocio Rius
2 collaborations
Lance Rodan
2 collaborations
Jill A Rosenfeld
2 collaborations
Cas Simons
2 collaborations
Sanjay M Sisodiya
2 collaborations
Penny Snell
2 collaborations
Laura St Clair
2 collaborations
Tiong Yang Tan
2 collaborations
Natalie B Tan
2 collaborations
David R Thorburn
2 collaborations
Cynthia J Tifft
2 collaborations
Eloise Uebergang
2 collaborations
Grace E VanNoy
2 collaborations
Eric Vilain
2 collaborations
David H Viskochil
2 collaborations
Laura Wedd
2 collaborations
Matthew T Wheeler
2 collaborations
Susan M White
2 collaborations
Monica Wojcik
2 collaborations
Lynne A Wolfe
2 collaborations
Zoe Wolfenson
2 collaborations
Changrui Xiao
2 collaborations
David Zocche
2 collaborations
John L Rubenstein
2 collaborations
Eirene Markenscoff-Papadimitriou
2 collaborations
Sebastian M Fica
2 collaborations
Diana Baralle
2 collaborations
Christel Depienne
2 collaborations
Daniel G MacArthur
2 collaborations
Stephan J Sanders
2 collaborations
Anne O'Donnell-Luria
2 collaborations
Nicola Whiffin
2 collaborations
Suzanna E L Temple
2 collaborations
Dhimas H Sakti
1 collaboration
Elisa E Cornish
1 collaboration
Nina Mustafic
1 collaboration
Afsah Zaheer
1 collaboration
Stephanie Retsas
1 collaboration
Sulekha Rajagopalan
1 collaboration
Clara Wt Chung
1 collaboration
Peter McCluskey
1 collaboration
Benjamin M Nash
1 collaboration
Robyn V Jamieson
1 collaboration
John R Grigg
1 collaboration
Suzanna El Temple
1 collaboration
Joanna Mm Howson
1 collaboration
B J Halliday
1 collaboration
G Baynam
1 collaboration
L Greenhalgh
1 collaboration
R J Leventer
1 collaboration
D T Pilz
1 collaboration
R Sachdev
1 collaboration
I E Scheffer
1 collaboration
D M Markie
1 collaboration
G McGillivray
1 collaboration
S P Robertson
1 collaboration
S Mandelstam
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
Sebastian Lunke
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
Michael F Buckley
1 collaboration
Paul R Mark
1 collaboration
Lesley C Adès
1 collaboration
Sarah A Sandaradura
1 collaboration
James R Lupski
1 collaboration
Pankaj B Agrawal
1 collaboration
Antonie D Kline
1 collaboration
None None
1 collaboration
Kai Wang
1 collaboration
H T Marc Timmers
1 collaboration
Gholson J Lyon
1 collaboration
Samantha Leigh Sundercombe
1 collaboration
Marina Berbic
1 collaboration
Corrina Cliffe
1 collaboration
George Elakis
1 collaboration
Arthavan Selvanathan
1 collaboration
Nila Quayum
1 collaboration
Cheng-Yee Nixon
1 collaboration
Sarah Lang
1 collaboration
Anna Richards
1 collaboration
Shuxiang Goh
1 collaboration
Meredith Wilson
1 collaboration
David Mowat
1 collaboration
Sarah Sandaradura
1 collaboration
Maie Walsh
1 collaboration
Michelle A Farrar
1 collaboration
Rebecca Walsh
1 collaboration
Janice Fletcher
1 collaboration
Edwin P Kirk
1 collaboration
Guus M Teunisse
1 collaboration
Deborah Schofield
1 collaboration
Michael Francis Buckley
1 collaboration
Ying Zhu
1 collaboration
Erwan Delage
1 collaboration
Ishita Bhatnagar
1 collaboration
Ed Blair
1 collaboration
David J Coman
1 collaboration
Petr Danecek
1 collaboration
Frances Elmslie
1 collaboration
Care-Anne Evans
1 collaboration
Anne Goriely
1 collaboration
Jenny E Higgs
1 collaboration
Anjali G Hinch
1 collaboration
Matthew E Hurles
1 collaboration
Katherine L Lachlan
1 collaboration
François Lecoquierre
1 collaboration
Sarah Lindsay
1 collaboration
Sahar Mansour
1 collaboration
Kay Metcalfe
1 collaboration
Mariya Moosajee
1 collaboration
Michael O'Donoghue
1 collaboration
Nikhil Pattani
1 collaboration
Charles J Shaw-Smith
1 collaboration
Helen S Stewart
1 collaboration
Pradeep Vasudevan
1 collaboration
Caroline F Wright
1 collaboration
Joanna M M Howson
1 collaboration
Pei Dai
1 collaboration
Andrew Honda
1 collaboration
Julie McGaughran
1 collaboration
Leslie Burnett
1 collaboration
Matthew Law
1 collaboration
Tri Giang Phan
1 collaboration
Ela Curic
1 collaboration
Fulya Taylan
1 collaboration
Lorenzo D Botto
1 collaboration
Ann Nordgren
1 collaboration
William Gahl
1 collaboration
Elizabeth Emma Palmer
1 collaboration