Accueil
Heidi Cope
Heidi Cope
Affiliations
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Publications (6)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American journal of human genetics
Avec:
Lindsey D Goodman
,
Zelha Nil
,
Thomas A Ravenscroft
,
Wu-Lin Charng
,
Shenzhao Lu
,
An-Chi Tien
,
Rolph Pfundt
,
David A Koolen
,
Charlotte A Haaxma
,
Hermine E Veenstra-Knol
,
Jolien S Klein Wassink-Ruiter
,
Marijke R Wevers
,
Melissa Jones
,
Laurence E Walsh
,
Victoria H Klee
,
Miel Theunis
,
Eric Legius
,
Dora Steel
,
Katy E S Barwick
,
Manju A Kurian
,
Shekeeb S Mohammad
,
Russell C Dale
,
Paulien A Terhal
,
Ellen van Binsbergen
,
Brian Kirmse
,
Bethany Robinette
,
Benjamin Cogné
,
Bertrand Isidor
,
Theresa A Grebe
,
Peggy Kulch
,
Bryan E Hainline
,
Katherine Sapp
,
Eva Morava
,
Eric W Klee
,
Erica L Macke
,
Pamela Trapane
,
Christopher Spencer
,
Yue Si
,
Amber Begtrup
,
Matthew J Moulton
,
Debdeep Dutta
,
Oguz Kanca
,
Auteur inconnu
,
Michael F Wangler
,
Shinya Yamamoto
,
Hugo J Bellen
,
Queenie K-G Tan
Adults with lysosomal storage diseases in the undiagnosed diseases network.
Molecular genetics & genomic medicine
Avec:
Changrui Xiao
,
Mary Koziura
,
Rebecca Spillman
,
Khoon Tan
,
Fuki M Hisama
,
Cynthia J Tifft
,
Camilo Toro
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain : a journal of neurology
Avec:
Siddharth Srivastava
,
Hagar Mor Shaked
,
Kenneth Gable
,
Sita D Gupta
,
Xueyang Pan
,
Niranjanakumari Somashekarappa
,
Gongshe Han
,
Payam Mohassel
,
Marc Gotkine
,
Elizabeth Doney
,
Paula Goldenberg
,
Queenie K G Tan
,
Yi Gong
,
Benjamin Kleinstiver
,
Brian Wishart
,
Claudia Brito Pires
,
Hannah Stutzman
,
Rebecca C Spillmann
,
Auteur inconnu
,
Reza Sadjadi
,
Orly Elpeleg
,
Chia-Hsueh Lee
,
Hugo J Bellen
,
Simon Edvardson
,
Florian Eichler
,
Teresa M Dunn
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Vandana Shashi
,
Kelly Schoch
,
Rebecca Ganetzky
,
Peter G Kranz
,
Neal Sondheimer
,
M Louise Markert
,
Azita Sadeghpour
,
Philip Roehrs
,
Thomas Arbogast
,
Colleen Muraresku
,
Auteur inconnu
,
Amanda V Tyndall
,
Michael J Esser
,
Kristine E Woodward
,
Billie Ping-Yee Au
,
Jillian S Parboosingh
,
Ryan E Lamont
,
Francois P Bernier
,
Nicola A M Wright
,
Susa M Benseler
,
Simon J Parsons
,
Mays El-Dairi
,
Edward C Smith
,
Purnima Valdez
,
Michael Tennison
,
A Micheil Innes
,
Erica E Davis
More than a Feeling: Dermatological Changes Impacted by Spaceflight.
Research square
Avec:
Henry Cope
,
Jonas Elsborg
,
Samuel Demharter
,
J Tyson Mcdonald
,
Chiara Wernecke
,
Hari Parthasarathy
,
Hriday Unadkat
,
Mira Chatrathi
,
Jennifer Claudio
,
Sigrid Reinsch
,
Sara Zwart
,
Scott Smith
,
Martina Heer
,
Masafumi Muratani
,
Cem Meydan
,
Eliah Overbey
,
JangKeun Kim
,
Jiwoon Park
,
Jonathan Schisler
,
Christopher Mason
,
Nathaniel Szewczyk
,
Craig Willis
,
Amr Salam
,
Afshin Beheshti
Enhancing European capabilities for application of multi-omics studies in biology and biomedicine space research.
iScience
Avec:
Aránzazu Manzano
,
Silvio Weging
,
Daniela Bezdan
,
Joseph Borg
,
Thomas Cahill
,
Eugénie Carnero-Diaz
,
Henry Cope
,
Colleen S Deane
,
Timothy Etheridge
,
Stefania Giacomello
,
Gary Hardiman
,
Natalie Leys
,
Pedro Madrigal
,
Felice Mastroleo
,
F Javier Medina
,
Jakub Mieczkowski
,
Manuel A Fernandez-Rojo
,
Keith Siew
,
Nathaniel J Szewczyk
,
Stephen B Walsh
,
Willian A da Silveira
,
Raúl Herranz
Réseau de co-auteurs
None None
3 collaborations
Hugo J Bellen
2 collaborations
Henry Cope
2 collaborations
Lindsey D Goodman
1 collaboration
Zelha Nil
1 collaboration
Thomas A Ravenscroft
1 collaboration
Wu-Lin Charng
1 collaboration
Shenzhao Lu
1 collaboration
An-Chi Tien
1 collaboration
Rolph Pfundt
1 collaboration
David A Koolen
1 collaboration
Charlotte A Haaxma
1 collaboration
Hermine E Veenstra-Knol
1 collaboration
Jolien S Klein Wassink-Ruiter
1 collaboration
Marijke R Wevers
1 collaboration
Melissa Jones
1 collaboration
Laurence E Walsh
1 collaboration
Victoria H Klee
1 collaboration
Miel Theunis
1 collaboration
Eric Legius
1 collaboration
Dora Steel
1 collaboration
Katy E S Barwick
1 collaboration
Manju A Kurian
1 collaboration
Shekeeb S Mohammad
1 collaboration
Russell C Dale
1 collaboration
Paulien A Terhal
1 collaboration
Ellen van Binsbergen
1 collaboration
Brian Kirmse
1 collaboration
Bethany Robinette
1 collaboration
Benjamin Cogné
1 collaboration
Bertrand Isidor
1 collaboration
Theresa A Grebe
1 collaboration
Peggy Kulch
1 collaboration
Bryan E Hainline
1 collaboration
Katherine Sapp
1 collaboration
Eva Morava
1 collaboration
Eric W Klee
1 collaboration
Erica L Macke
1 collaboration
Pamela Trapane
1 collaboration
Christopher Spencer
1 collaboration
Yue Si
1 collaboration
Amber Begtrup
1 collaboration
Matthew J Moulton
1 collaboration
Debdeep Dutta
1 collaboration
Oguz Kanca
1 collaboration
Michael F Wangler
1 collaboration
Shinya Yamamoto
1 collaboration
Queenie K-G Tan
1 collaboration
Changrui Xiao
1 collaboration
Mary Koziura
1 collaboration
Rebecca Spillman
1 collaboration
Khoon Tan
1 collaboration
Fuki M Hisama
1 collaboration
Cynthia J Tifft
1 collaboration
Camilo Toro
1 collaboration
Siddharth Srivastava
1 collaboration
Hagar Mor Shaked
1 collaboration
Kenneth Gable
1 collaboration
Sita D Gupta
1 collaboration
Xueyang Pan
1 collaboration
Niranjanakumari Somashekarappa
1 collaboration
Gongshe Han
1 collaboration
Payam Mohassel
1 collaboration
Marc Gotkine
1 collaboration
Elizabeth Doney
1 collaboration
Paula Goldenberg
1 collaboration
Queenie K G Tan
1 collaboration
Yi Gong
1 collaboration
Benjamin Kleinstiver
1 collaboration
Brian Wishart
1 collaboration
Claudia Brito Pires
1 collaboration
Hannah Stutzman
1 collaboration
Rebecca C Spillmann
1 collaboration
Reza Sadjadi
1 collaboration
Orly Elpeleg
1 collaboration
Chia-Hsueh Lee
1 collaboration
Simon Edvardson
1 collaboration
Florian Eichler
1 collaboration
Teresa M Dunn
1 collaboration
Vandana Shashi
1 collaboration
Kelly Schoch
1 collaboration
Rebecca Ganetzky
1 collaboration
Peter G Kranz
1 collaboration
Neal Sondheimer
1 collaboration
M Louise Markert
1 collaboration
Azita Sadeghpour
1 collaboration
Philip Roehrs
1 collaboration
Thomas Arbogast
1 collaboration
Colleen Muraresku
1 collaboration
Amanda V Tyndall
1 collaboration
Michael J Esser
1 collaboration
Kristine E Woodward
1 collaboration
Billie Ping-Yee Au
1 collaboration
Jillian S Parboosingh
1 collaboration
Ryan E Lamont
1 collaboration
Francois P Bernier
1 collaboration
Nicola A M Wright
1 collaboration
Susa M Benseler
1 collaboration
Simon J Parsons
1 collaboration
Mays El-Dairi
1 collaboration
Edward C Smith
1 collaboration
Purnima Valdez
1 collaboration
Michael Tennison
1 collaboration
A Micheil Innes
1 collaboration
Erica E Davis
1 collaboration
Jonas Elsborg
1 collaboration
Samuel Demharter
1 collaboration
J Tyson Mcdonald
1 collaboration
Chiara Wernecke
1 collaboration
Hari Parthasarathy
1 collaboration
Hriday Unadkat
1 collaboration
Mira Chatrathi
1 collaboration
Jennifer Claudio
1 collaboration
Sigrid Reinsch
1 collaboration
Sara Zwart
1 collaboration
Scott Smith
1 collaboration
Martina Heer
1 collaboration
Masafumi Muratani
1 collaboration
Cem Meydan
1 collaboration
Eliah Overbey
1 collaboration
JangKeun Kim
1 collaboration
Jiwoon Park
1 collaboration
Jonathan Schisler
1 collaboration
Christopher Mason
1 collaboration
Nathaniel Szewczyk
1 collaboration
Craig Willis
1 collaboration
Amr Salam
1 collaboration
Afshin Beheshti
1 collaboration
Aránzazu Manzano
1 collaboration
Silvio Weging
1 collaboration
Daniela Bezdan
1 collaboration
Joseph Borg
1 collaboration
Thomas Cahill
1 collaboration
Eugénie Carnero-Diaz
1 collaboration
Colleen S Deane
1 collaboration
Timothy Etheridge
1 collaboration
Stefania Giacomello
1 collaboration
Gary Hardiman
1 collaboration
Natalie Leys
1 collaboration
Pedro Madrigal
1 collaboration
Felice Mastroleo
1 collaboration
F Javier Medina
1 collaboration
Jakub Mieczkowski
1 collaboration
Manuel A Fernandez-Rojo
1 collaboration
Keith Siew
1 collaboration
Nathaniel J Szewczyk
1 collaboration
Stephen B Walsh
1 collaboration
Willian A da Silveira
1 collaboration
Raúl Herranz
1 collaboration