Accueil
Marek Turnovec
Marek Turnovec
Affiliations
Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
ORCID: 0000-0001-9497-3919
Publications (5)
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Annals of human genetics
Avec:
Jana Čopíková
,
Jana Paděrová
,
Věra Románková
,
Markéta Havlovicová
,
Miroslava Balaščáková
,
Michaela Zelinová
,
Šárka Vejvalková
,
Martina Simandlová
,
Jana Štěpánková
,
Věra Hořínová
,
Eva Kantorová
,
Gabriela Křečková
,
Jana Pospíšilová
,
Arpád Boday
,
Anna Uhrová Meszarosová
,
Marek Turnovec
,
Pavel Votýpka
,
Petra Lišková
,
Radka Kremlíková Pourová
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic acids research
Avec:
Michael A Gargano
,
Nicolas Matentzoglu
,
Ben Coleman
,
Eunice B Addo-Lartey
,
Anna V Anagnostopoulos
,
Joel Anderton
,
Paul Avillach
,
Anita M Bagley
,
Eduard Bakštein
,
James P Balhoff
,
Gareth Baynam
,
Susan M Bello
,
Michael Berk
,
Holli Bertram
,
Somer Bishop
,
Hannah Blau
,
David F Bodenstein
,
Pablo Botas
,
Kaan Boztug
,
Jolana Čady
,
Tiffany J Callahan
,
Rhiannon Cameron
,
Seth J Carbon
,
Francisco Castellanos
,
J Harry Caufield
,
Lauren E Chan
,
Christopher G Chute
,
Jaime Cruz-Rojo
,
Noémi Dahan-Oliel
,
Jon R Davids
,
Maud de Dieuleveult
,
Vinicius de Souza
,
Bert B A de Vries
,
Esther de Vries
,
J Raymond DePaulo
,
Beata Derfalvi
,
Ferdinand Dhombres
,
Claudia Diaz-Byrd
,
Alexander J M Dingemans
,
Bruno Donadille
,
Michael Duyzend
,
Reem Elfeky
,
Shahim Essaid
,
Carolina Fabrizzi
,
Giovanna Fico
,
Helen V Firth
,
Yun Freudenberg-Hua
,
Janice M Fullerton
,
Davera L Gabriel
,
Kimberly Gilmour
,
Jessica Giordano
,
Fernando S Goes
,
Rachel Gore Moses
,
Ian Green
,
Matthias Griese
,
Tudor Groza
,
Weihong Gu
,
Julia Guthrie
,
Benjamin Gyori
,
Ada Hamosh
,
Marc Hanauer
,
Kateřina Hanušová
,
Yongqun Oliver He
,
Harshad Hegde
,
Ingo Helbig
,
Kateřina Holasová
,
Charles Tapley Hoyt
,
Shangzhi Huang
,
Eric Hurwitz
,
Julius O B Jacobsen
,
Xiaofeng Jiang
,
Lisa Joseph
,
Kamyar Keramatian
,
Bryan King
,
Katrin Knoflach
,
David A Koolen
,
Megan L Kraus
,
Carlo Kroll
,
Maaike Kusters
,
Markus S Ladewig
,
David Lagorce
,
Meng-Chuan Lai
,
Pablo Lapunzina
,
Bryan Laraway
,
David Lewis-Smith
,
Xiarong Li
,
Caterina Lucano
,
Marzieh Majd
,
Mary L Marazita
,
Victor Martinez-Glez
,
Toby H McHenry
,
Melvin G McInnis
,
Julie A McMurry
,
Michaela Mihulová
,
Caitlin E Millett
,
Philip B Mitchell
,
Veronika Moslerová
,
Kenji Narutomi
,
Shahrzad Nematollahi
,
Julian Nevado
,
Andrew A Nierenberg
,
Nikola Novák Čajbiková
,
John I Nurnberger
,
Soichi Ogishima
,
Daniel Olson
,
Abigail Ortiz
,
Harry Pachajoa
,
Guiomar Perez de Nanclares
,
Amy Peters
,
Tim Putman
,
Christina K Rapp
,
Ana Rath
,
Justin Reese
,
Lauren Rekerle
,
Angharad M Roberts
,
Suzy Roy
,
Stephan J Sanders
,
Catharina Schuetz
,
Eva C Schulte
,
Thomas G Schulze
,
Martin Schwarz
,
Katie Scott
,
Dominik Seelow
,
Berthold Seitz
,
Yiping Shen
,
Morgan N Similuk
,
Eric S Simon
,
Balwinder Singh
,
Damian Smedley
,
Cynthia L Smith
,
Jake T Smolinsky
,
Sarah Sperry
,
Elizabeth Stafford
,
Ray Stefancsik
,
Robin Steinhaus
,
Rebecca Strawbridge
,
Jagadish Chandrabose Sundaramurthi
,
Polina Talapova
,
Jair A Tenorio Castano
,
Pavel Tesner
,
Rhys H Thomas
,
Audrey Thurm
,
Marek Turnovec
,
Marielle E van Gijn
,
Nicole A Vasilevsky
,
Markéta Vlčková
,
Anita Walden
,
Kai Wang
,
Ron Wapner
,
James S Ware
,
Addo A Wiafe
,
Samuel A Wiafe
,
Lisa D Wiggins
,
Andrew E Williams
,
Chen Wu
,
Margot J Wyrwoll
,
Hui Xiong
,
Nefize Yalin
,
Yasunori Yamamoto
,
Lakshmi N Yatham
,
Anastasia K Yocum
,
Allan H Young
,
Zafer Yüksel
,
Peter P Zandi
,
Andreas Zankl
,
Ignacio Zarante
,
Miroslav Zvolský
,
Sabrina Toro
,
Leigh C Carmody
,
Nomi L Harris
,
Monica C Munoz-Torres
,
Daniel Danis
,
Christopher J Mungall
,
Sebastian Köhler
,
Melissa A Haendel
,
Peter N Robinson
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Frontiers in genetics
Avec:
Christoffer Nellåker
,
Fowzan S Alkuraya
,
Gareth Baynam
,
Raphael A Bernier
,
Francois P J Bernier
,
Vanessa Boulanger
,
Michael Brudno
,
Han G Brunner
,
Jill Clayton-Smith
,
Benjamin Cogné
,
Hugh J S Dawkins
,
Bert B A deVries
,
Sofia Douzgou
,
Tracy Dudding-Byth
,
Evan E Eichler
,
Michael Ferlaino
,
Karen Fieggen
,
Helen V Firth
,
David R FitzPatrick
,
Dylan Gration
,
Tudor Groza
,
Melissa Haendel
,
Nina Hallowell
,
Ada Hamosh
,
Jayne Hehir-Kwa
,
Marc-Phillip Hitz
,
Mark Hughes
,
Usha Kini
,
Tjitske Kleefstra
,
R Frank Kooy
,
Peter Krawitz
,
Sébastien Küry
,
Melissa Lees
,
Gholson J Lyon
,
Stanislas Lyonnet
,
Julien L Marcadier
,
Stephen Meyn
,
Veronika Moslerová
,
Juan M Politei
,
Cathryn C Poulton
,
F Lucy Raymond
,
Margot R F Reijnders
,
Peter N Robinson
,
Corrado Romano
,
Catherine M Rose
,
David C G Sainsbury
,
Lyn Schofield
,
Vernon R Sutton
,
Marek Turnovec
,
Anke Van Dijck
,
Hilde Van Esch
,
Andrew O M Wilkie
,
Auteur inconnu
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
American journal of medical genetics. Part A
Avec:
Martin Schwarz
,
Lukáš Ryba
,
Anna Křepelová
,
Veronika Moslerová
,
Michaela Zelinová
,
Marek Turnovec
,
Júlia Martinková
,
Lenka Kratochvílová
,
Martin Drahanský
,
Milan Macek
,
Markéta Havlovicová
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.
Scientific reports
Avec:
Martin Schwarz
,
Jan Geryk
,
Markéta Havlovicová
,
Michaela Mihulová
,
Marek Turnovec
,
Lukáš Ryba
,
Júlia Martinková
,
Milan Macek
,
Richard Palmer
,
Karolína Kočandrlová
,
Jana Velemínská
,
Veronika Moslerová
Réseau de co-auteurs
Veronika Moslerová
4 collaborations
Markéta Havlovicová
3 collaborations
Martin Schwarz
3 collaborations
Michaela Zelinová
2 collaborations
Gareth Baynam
2 collaborations
Helen V Firth
2 collaborations
Tudor Groza
2 collaborations
Ada Hamosh
2 collaborations
Michaela Mihulová
2 collaborations
Peter N Robinson
2 collaborations
Lukáš Ryba
2 collaborations
Júlia Martinková
2 collaborations
Milan Macek
2 collaborations
Jana Čopíková
1 collaboration
Jana Paděrová
1 collaboration
Věra Románková
1 collaboration
Miroslava Balaščáková
1 collaboration
Šárka Vejvalková
1 collaboration
Martina Simandlová
1 collaboration
Jana Štěpánková
1 collaboration
Věra Hořínová
1 collaboration
Eva Kantorová
1 collaboration
Gabriela Křečková
1 collaboration
Jana Pospíšilová
1 collaboration
Arpád Boday
1 collaboration
Anna Uhrová Meszarosová
1 collaboration
Pavel Votýpka
1 collaboration
Petra Lišková
1 collaboration
Radka Kremlíková Pourová
1 collaboration
Michael A Gargano
1 collaboration
Nicolas Matentzoglu
1 collaboration
Ben Coleman
1 collaboration
Eunice B Addo-Lartey
1 collaboration
Anna V Anagnostopoulos
1 collaboration
Joel Anderton
1 collaboration
Paul Avillach
1 collaboration
Anita M Bagley
1 collaboration
Eduard Bakštein
1 collaboration
James P Balhoff
1 collaboration
Susan M Bello
1 collaboration
Michael Berk
1 collaboration
Holli Bertram
1 collaboration
Somer Bishop
1 collaboration
Hannah Blau
1 collaboration
David F Bodenstein
1 collaboration
Pablo Botas
1 collaboration
Kaan Boztug
1 collaboration
Jolana Čady
1 collaboration
Tiffany J Callahan
1 collaboration
Rhiannon Cameron
1 collaboration
Seth J Carbon
1 collaboration
Francisco Castellanos
1 collaboration
J Harry Caufield
1 collaboration
Lauren E Chan
1 collaboration
Christopher G Chute
1 collaboration
Jaime Cruz-Rojo
1 collaboration
Noémi Dahan-Oliel
1 collaboration
Jon R Davids
1 collaboration
Maud de Dieuleveult
1 collaboration
Vinicius de Souza
1 collaboration
Bert B A de Vries
1 collaboration
Esther de Vries
1 collaboration
J Raymond DePaulo
1 collaboration
Beata Derfalvi
1 collaboration
Ferdinand Dhombres
1 collaboration
Claudia Diaz-Byrd
1 collaboration
Alexander J M Dingemans
1 collaboration
Bruno Donadille
1 collaboration
Michael Duyzend
1 collaboration
Reem Elfeky
1 collaboration
Shahim Essaid
1 collaboration
Carolina Fabrizzi
1 collaboration
Giovanna Fico
1 collaboration
Yun Freudenberg-Hua
1 collaboration
Janice M Fullerton
1 collaboration
Davera L Gabriel
1 collaboration
Kimberly Gilmour
1 collaboration
Jessica Giordano
1 collaboration
Fernando S Goes
1 collaboration
Rachel Gore Moses
1 collaboration
Ian Green
1 collaboration
Matthias Griese
1 collaboration
Weihong Gu
1 collaboration
Julia Guthrie
1 collaboration
Benjamin Gyori
1 collaboration
Marc Hanauer
1 collaboration
Kateřina Hanušová
1 collaboration
Yongqun Oliver He
1 collaboration
Harshad Hegde
1 collaboration
Ingo Helbig
1 collaboration
Kateřina Holasová
1 collaboration
Charles Tapley Hoyt
1 collaboration
Shangzhi Huang
1 collaboration
Eric Hurwitz
1 collaboration
Julius O B Jacobsen
1 collaboration
Xiaofeng Jiang
1 collaboration
Lisa Joseph
1 collaboration
Kamyar Keramatian
1 collaboration
Bryan King
1 collaboration
Katrin Knoflach
1 collaboration
David A Koolen
1 collaboration
Megan L Kraus
1 collaboration
Carlo Kroll
1 collaboration
Maaike Kusters
1 collaboration
Markus S Ladewig
1 collaboration
David Lagorce
1 collaboration
Meng-Chuan Lai
1 collaboration
Pablo Lapunzina
1 collaboration
Bryan Laraway
1 collaboration
David Lewis-Smith
1 collaboration
Xiarong Li
1 collaboration
Caterina Lucano
1 collaboration
Marzieh Majd
1 collaboration
Mary L Marazita
1 collaboration
Victor Martinez-Glez
1 collaboration
Toby H McHenry
1 collaboration
Melvin G McInnis
1 collaboration
Julie A McMurry
1 collaboration
Caitlin E Millett
1 collaboration
Philip B Mitchell
1 collaboration
Kenji Narutomi
1 collaboration
Shahrzad Nematollahi
1 collaboration
Julian Nevado
1 collaboration
Andrew A Nierenberg
1 collaboration
Nikola Novák Čajbiková
1 collaboration
John I Nurnberger
1 collaboration
Soichi Ogishima
1 collaboration
Daniel Olson
1 collaboration
Abigail Ortiz
1 collaboration
Harry Pachajoa
1 collaboration
Guiomar Perez de Nanclares
1 collaboration
Amy Peters
1 collaboration
Tim Putman
1 collaboration
Christina K Rapp
1 collaboration
Ana Rath
1 collaboration
Justin Reese
1 collaboration
Lauren Rekerle
1 collaboration
Angharad M Roberts
1 collaboration
Suzy Roy
1 collaboration
Stephan J Sanders
1 collaboration
Catharina Schuetz
1 collaboration
Eva C Schulte
1 collaboration
Thomas G Schulze
1 collaboration
Katie Scott
1 collaboration
Dominik Seelow
1 collaboration
Berthold Seitz
1 collaboration
Yiping Shen
1 collaboration
Morgan N Similuk
1 collaboration
Eric S Simon
1 collaboration
Balwinder Singh
1 collaboration
Damian Smedley
1 collaboration
Cynthia L Smith
1 collaboration
Jake T Smolinsky
1 collaboration
Sarah Sperry
1 collaboration
Elizabeth Stafford
1 collaboration
Ray Stefancsik
1 collaboration
Robin Steinhaus
1 collaboration
Rebecca Strawbridge
1 collaboration
Jagadish Chandrabose Sundaramurthi
1 collaboration
Polina Talapova
1 collaboration
Jair A Tenorio Castano
1 collaboration
Pavel Tesner
1 collaboration
Rhys H Thomas
1 collaboration
Audrey Thurm
1 collaboration
Marielle E van Gijn
1 collaboration
Nicole A Vasilevsky
1 collaboration
Markéta Vlčková
1 collaboration
Anita Walden
1 collaboration
Kai Wang
1 collaboration
Ron Wapner
1 collaboration
James S Ware
1 collaboration
Addo A Wiafe
1 collaboration
Samuel A Wiafe
1 collaboration
Lisa D Wiggins
1 collaboration
Andrew E Williams
1 collaboration
Chen Wu
1 collaboration
Margot J Wyrwoll
1 collaboration
Hui Xiong
1 collaboration
Nefize Yalin
1 collaboration
Yasunori Yamamoto
1 collaboration
Lakshmi N Yatham
1 collaboration
Anastasia K Yocum
1 collaboration
Allan H Young
1 collaboration
Zafer Yüksel
1 collaboration
Peter P Zandi
1 collaboration
Andreas Zankl
1 collaboration
Ignacio Zarante
1 collaboration
Miroslav Zvolský
1 collaboration
Sabrina Toro
1 collaboration
Leigh C Carmody
1 collaboration
Nomi L Harris
1 collaboration
Monica C Munoz-Torres
1 collaboration
Daniel Danis
1 collaboration
Christopher J Mungall
1 collaboration
Sebastian Köhler
1 collaboration
Melissa A Haendel
1 collaboration
Christoffer Nellåker
1 collaboration
Fowzan S Alkuraya
1 collaboration
Raphael A Bernier
1 collaboration
Francois P J Bernier
1 collaboration
Vanessa Boulanger
1 collaboration
Michael Brudno
1 collaboration
Han G Brunner
1 collaboration
Jill Clayton-Smith
1 collaboration
Benjamin Cogné
1 collaboration
Hugh J S Dawkins
1 collaboration
Bert B A deVries
1 collaboration
Sofia Douzgou
1 collaboration
Tracy Dudding-Byth
1 collaboration
Evan E Eichler
1 collaboration
Michael Ferlaino
1 collaboration
Karen Fieggen
1 collaboration
David R FitzPatrick
1 collaboration
Dylan Gration
1 collaboration
Melissa Haendel
1 collaboration
Nina Hallowell
1 collaboration
Jayne Hehir-Kwa
1 collaboration
Marc-Phillip Hitz
1 collaboration
Mark Hughes
1 collaboration
Usha Kini
1 collaboration
Tjitske Kleefstra
1 collaboration
R Frank Kooy
1 collaboration
Peter Krawitz
1 collaboration
Sébastien Küry
1 collaboration
Melissa Lees
1 collaboration
Gholson J Lyon
1 collaboration
Stanislas Lyonnet
1 collaboration
Julien L Marcadier
1 collaboration
Stephen Meyn
1 collaboration
Juan M Politei
1 collaboration
Cathryn C Poulton
1 collaboration
F Lucy Raymond
1 collaboration
Margot R F Reijnders
1 collaboration
Corrado Romano
1 collaboration
Catherine M Rose
1 collaboration
David C G Sainsbury
1 collaboration
Lyn Schofield
1 collaboration
Vernon R Sutton
1 collaboration
Anke Van Dijck
1 collaboration
Hilde Van Esch
1 collaboration
Andrew O M Wilkie
1 collaboration
None None
1 collaboration
Anna Křepelová
1 collaboration
Lenka Kratochvílová
1 collaboration
Martin Drahanský
1 collaboration
Jan Geryk
1 collaboration
Richard Palmer
1 collaboration
Karolína Kočandrlová
1 collaboration
Jana Velemínská
1 collaboration