All papers authored by Cas Simons
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2021
Ann E. Frazier 
,
Alison G. Compton ,
Yoshihito Kishita ,
Daniella H. Hock ,
AnneMarie E. Welch,
Sumudu S. C. Amarasekera ,
Rocio Rius ,
Luke E. Formosa,
Atsuko Imai-Okazaki,
David Francis,
Min Wang,
Nicole J. Lake,
Simone Tregoning,
Jafar S. Jabbari ,
Alexis Lucattini
and 30 other authors
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,
Alison G. Compton ,
Yoshihito Kishita ,
Daniella H. Hock ,
AnneMarie E. Welch,
Sumudu S. C. Amarasekera ,
Rocio Rius ,
Luke E. Formosa,
Atsuko Imai-Okazaki,
David Francis,
Min Wang,
Nicole J. Lake,
Simone Tregoning,
Jafar S. Jabbari ,
Alexis Lucattini
and 30 other authors
Upload
2020
Guy Helman ,
Bryan R. Lajoie,
Joanna Crawford ,
Asako Takanohashi,
Marzena Walkiewicz,
Egor Dolzhenko,
Andrew M. Gross,
Vladimir G. Gainullin,
Stephen J. Bent,
Emma M. Jenkinson,
Sacha Ferdinandusse,
Hans R. Waterham,
Imen Dorboz,
Enrico Bertini,
Noriko Miyake
and 15 other authors
,
Bryan R. Lajoie,
Joanna Crawford ,
Asako Takanohashi,
Marzena Walkiewicz,
Egor Dolzhenko,
Andrew M. Gross,
Vladimir G. Gainullin,
Stephen J. Bent,
Emma M. Jenkinson,
Sacha Ferdinandusse,
Hans R. Waterham,
Imen Dorboz,
Enrico Bertini,
Noriko Miyake
and 15 other authors
Genome sequencing in persistently unsolved white matter disorders
Download from doi.org
2019
Marjo S. van der Knaap,
Marisa I. Mendes,
Lisa G. Riley,
Desiree E. C. Smith,
Joëlle Rudinger-Thirion,
Judith van Gaalen,
Meyke Schouten,
Marjolaine Willems ,
Quinten Waisfisz,
Richard J. Rodenburg,
Ryan J. Taft,
Cas Simons ,
Gajja S. Salomons,
Marianna Bugiani,
Fanny Mochel
and 7 other authors
,
Quinten Waisfisz,
Richard J. Rodenburg,
Ryan J. Taft,
Cas Simons ,
Gajja S. Salomons,
Marianna Bugiani,
Fanny Mochel
and 7 other authors
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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2017
Nicole Ulrick,
Amy Goldstein,
Cas Simons ,
Ryan J. Taft,
Guy Helman,
Amy Pizzino,
Miriam Bloom,
Julie Vogt,
Karen Pysden,
Daria Diodato,
Diego Martinelli,
Ahmad Monavari,
Daniela Buhas,
Clara D. M. van Karnebeek,
Imen Dorboz
and 8 other authors
Download from espace.library.uq.edu.au
,
Ryan J. Taft,
Guy Helman,
Amy Pizzino,
Miriam Bloom,
Julie Vogt,
Karen Pysden,
Daria Diodato,
Diego Martinelli,
Ahmad Monavari,
Daniela Buhas,
Clara D. M. van Karnebeek,
Imen Dorboz
and 8 other authors
Download from espace.library.uq.edu.au
2015
Andrew Mallett,
Chirag Patel,
Barbara Maier,
Julie McGaughran,
Micheal Gabbett ,
Minoru Takasato,
Anne Cameron,
Peter Trnka,
Stephen I. Alexander,
Stephen I. Alexander,
Gopala Rangan,
Michel C. Tchan,
Georgina Caruana,
George T. John,
Catherine Quinlan
and 9 other authors
,
Minoru Takasato,
Anne Cameron,
Peter Trnka,
Stephen I. Alexander,
Stephen I. Alexander,
Gopala Rangan,
Michel C. Tchan,
Georgina Caruana,
George T. John,
Catherine Quinlan
and 9 other authors
A protocol for the identification and validation of novel genetic causes of kidney disease
Download from dx.doi.org
Katarzyna Koltowska,
Scott Paterson,
Neil I. Bower,
Gregory J. Baillie,
Anne K. Lagendijk,
Jonathan W. Astin,
Huijun Chen,
Mathias Francois,
Philip S. Crosier,
Ryan J. Taft,
Cas Simons ,
Kelly A. Smith,
Benjamin M. Hogan
Download from genesdev.cshlp.org
,
Kelly A. Smith,
Benjamin M. Hogan
Download from genesdev.cshlp.org
Isabelle Thiffault,
Nicole I. Wolf ,
Diane Forget,
Kether Guerrero,
Luan T. Tran,
Karine Choquet,
Mathieu Lavallée-Adam,
Christian Poitras,
Bernard Brais,
Grace Yoon,
Laszlo Sztriha,
Richard I. Webster,
Dagmar Timmann,
Bart P. van de Warrenburg,
Jürgen Seeger
and 12 other authors
,
Diane Forget,
Kether Guerrero,
Luan T. Tran,
Karine Choquet,
Mathieu Lavallée-Adam,
Christian Poitras,
Bernard Brais,
Grace Yoon,
Laszlo Sztriha,
Richard I. Webster,
Dagmar Timmann,
Bart P. van de Warrenburg,
Jürgen Seeger
and 12 other authors
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Download from www.nature.com
Sumit Parikh,
Geneviève Bernard,
Richard J. Leventer,
Marjo S. van der Knaap,
Johan van Hove,
Amy Pizzino,
Nathan H. McNeill,
Guy Helman,
Cas Simons ,
Johanna L. Schmidt,
William B. Rizzo,
Marc C. Patterson ,
Ryan J. Taft,
on behalf of the Glia Consortium,
Adeline Vanderver
and 1 other authors
Download from europepmc.org
,
Johanna L. Schmidt,
William B. Rizzo,
Marc C. Patterson ,
Ryan J. Taft,
on behalf of the Glia Consortium,
Adeline Vanderver
and 1 other authors
Download from europepmc.org
Cas Simons ,
Laurie B. Griffin,
Guy Helman,
Gretchen Golas,
Amy Pizzino,
Miriam Bloom,
Jennifer L. P. Murphy,
Joanna Crawford ,
Sarah H. Evans,
Scott Topper,
Matthew T. Whitehead,
John M. Schreiber,
Kimberly A. Chapman,
Cyndi Tifft,
Katrina B. Lu
and 6 other authors
Download from doi.org
,
Laurie B. Griffin,
Guy Helman,
Gretchen Golas,
Amy Pizzino,
Miriam Bloom,
Jennifer L. P. Murphy,
Joanna Crawford ,
Sarah H. Evans,
Scott Topper,
Matthew T. Whitehead,
John M. Schreiber,
Kimberly A. Chapman,
Cyndi Tifft,
Katrina B. Lu
and 6 other authors
Download from doi.org
Cas Simons ,
Lachlan D. Rash,
Joanna Crawford ,
Linlin Ma,
Ben Cristofori-Armstrong,
David Miller,
Kelin Ru,
Gregory J. Baillie,
Yasemin Alanay,
Adeline Jacquinet,
François-Guillaume Debray,
Alain Verloes,
Joseph Shen,
Gözde Yesil,
Serhat Guler
and 7 other authors
Download from www.nature.com
,
Lachlan D. Rash,
Joanna Crawford ,
Linlin Ma,
Ben Cristofori-Armstrong,
David Miller,
Kelin Ru,
Gregory J. Baillie,
Yasemin Alanay,
Adeline Jacquinet,
François-Guillaume Debray,
Alain Verloes,
Joseph Shen,
Gözde Yesil,
Serhat Guler
and 7 other authors
Download from www.nature.com
2014
Nicole I. Wolf,
Camilo Toro,
Ilya Kister,
Kartikasalwah Abd Latif,
K. A. Latif,
Richard Leventer,
Amy Pizzino,
Cas Simons ,
Truus E. M. Abbink,
Ryan J. Taft,
Marjo S. van der Knaap,
Adeline Vanderver
,
Truus E. M. Abbink,
Ryan J. Taft,
Marjo S. van der Knaap,
Adeline Vanderver
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Download from europepmc.org
Amy Pizzino,
Tyler Mark Pierson,
Yiran Guo,
Guy Helman,
Sebastian Fortini,
Kether Guerrero,
Sulagna Saitta,
Jennifer Louise Patrick Murphy,
Quasar Padiath,
Yi Xie,
Hakon Hakonarson,
Xun Xu,
Tara Funari,
Michelle Fox,
Marjo S. van der Knaap
and 6 other authors
TUBB4A de novo mutations cause isolated hypomyelination
Download from www.ncbi.nlm.nih.gov
Eline M. Hamilton,
Emiel Polder,
Adeline Vanderver,
Sakkubai Naidu,
Raphael Schiffmann,
Kate Fisher,
Ana Boban Raguz,
A. B. Ragu,
Luba Blumkin,
H. Abc Research Group,
Carola G. M. van Berkel,
Quinten Waisfisz,
Cas Simons ,
Ryan J. Taft,
Truus E. M. Abbink
and 3 other authors
Download from doi.org
,
Ryan J. Taft,
Truus E. M. Abbink
and 3 other authors
Download from doi.org
2013
Ivan Prokudin,
Cas Simons ,
John R. Grigg,
Rebecca Storen,
Vikrant Kumar,
Zai Y. Phua,
James Smith,
Maree Flaherty,
Sonia Davila,
Robyn V. Jamieson
Download from www.nature.com
,
John R. Grigg,
Rebecca Storen,
Vikrant Kumar,
Zai Y. Phua,
James Smith,
Maree Flaherty,
Sonia Davila,
Robyn V. Jamieson
Download from www.nature.com
Adeline Vanderver,
Cas Simons ,
Johanna L. Schmidt,
Philip L. Pearl,
Miriam Bloom,
Bennett Lavenstein,
David Miller,
Sean M. Grimmond,
Ryan J. Taft
Download from www.ncbi.nlm.nih.gov
,
Johanna L. Schmidt,
Philip L. Pearl,
Miriam Bloom,
Bennett Lavenstein,
David Miller,
Sean M. Grimmond,
Ryan J. Taft
Download from www.ncbi.nlm.nih.gov
Rj Taft,
Adeline Vanderver,
Ni Wolf,
Cas Simons ,
Rj Leventer,
David Miller,
Pj Lockhart,
Johanna Schmidt,
Irenaeus F. M. de Coo,
Kate Pope,
Kelin Ru,
Joanna Crawford ,
Sa Damiani,
Sm Grimmond,
Tena Rosser
and 11 other authors
Download from doi.org
,
Rj Leventer,
David Miller,
Pj Lockhart,
Johanna Schmidt,
Irenaeus F. M. de Coo,
Kate Pope,
Kelin Ru,
Joanna Crawford ,
Sa Damiani,
Sm Grimmond,
Tena Rosser
and 11 other authors
Download from doi.org
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