All papers authored by Payam Mohassel
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2022
Museer A. Lone 
,
Mari J. Aaltonen ,
Aliza Zidell,
Helio F. Pedro,
Jonas A. Morales Saute,
Shalett Mathew,
Payam Mohassel ,
Carsten G. Bönnemann,
Eric A. Shoubridge,
Thorsten Hornemann
Download from doi.org
,
Mari J. Aaltonen ,
Aliza Zidell,
Helio F. Pedro,
Jonas A. Morales Saute,
Shalett Mathew,
Payam Mohassel ,
Carsten G. Bönnemann,
Eric A. Shoubridge,
Thorsten Hornemann
Download from doi.org
Hong Joo Kim ,
Sandra Donkervoort,
Kevin O’Donovan,
Lin Guo,
Maura Coughlin,
Payam Mohassel ,
Xaviere Lornage,
A. Reghan Foley,
Masashi Ogasawara,
Nicola Foulds,
Aki Sato,
Simon R. Hammans,
Pinki Munot,
Charlotte M. Fare ,
A. Reghan Foley
and 46 other authors
,
Sandra Donkervoort,
Kevin O’Donovan,
Lin Guo,
Maura Coughlin,
Payam Mohassel ,
Xaviere Lornage,
A. Reghan Foley,
Masashi Ogasawara,
Nicola Foulds,
Aki Sato,
Simon R. Hammans,
Pinki Munot,
Charlotte M. Fare ,
A. Reghan Foley
and 46 other authors
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
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K. Wade Foster,
Payam Mohassel ,
Ning Chang ,
Kaoru Inoue ,
Angela Delaney,
Ying Hu,
Sandra Donkervoort,
Dimah Saade ,
Billioux Bj,
B. Jeanne Billioux,
B. Jeanne Billioux,
Brooke Meader,
Rita Volochayev,
Konersman Cg,
Chamindra G. Konersman
and 15 other authors
,
Ning Chang ,
Kaoru Inoue ,
Angela Delaney,
Ying Hu,
Sandra Donkervoort,
Dimah Saade ,
Billioux Bj,
B. Jeanne Billioux,
B. Jeanne Billioux,
Brooke Meader,
Rita Volochayev,
Konersman Cg,
Chamindra G. Konersman
and 15 other authors
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants
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2021
Eleonora Guadagnin,
Lin Yang,
Mariarita Santi,
Prech Uapinyoying,
Kory R. Johnson,
Jahannaz Dastgir,
Ying Hu,
Allissa Dillmann,
Payam Mohassel ,
Mark R. Cookson,
A. Reghan Foley ,
Carsten G. Bönnemann
,
Mark R. Cookson,
A. Reghan Foley ,
Carsten G. Bönnemann
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
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Payam Mohassel ,
Sandra Donkervoort,
Museer A. Lone ,
Matthew Nalls,
Kenneth Gable ,
Sita D. Gupta ,
A. Reghan Foley,
Ying Hu,
Jonas Alex Morales Saute,
Ana Lucila Moreira,
Fernando Kok,
Alessandro Introna ,
Giancarlo Logroscino ,
Christopher Grunseich,
Alec R. Nickolls
and 31 other authors
,
Sandra Donkervoort,
Museer A. Lone ,
Matthew Nalls,
Kenneth Gable ,
Sita D. Gupta ,
A. Reghan Foley,
Ying Hu,
Jonas Alex Morales Saute,
Ana Lucila Moreira,
Fernando Kok,
Alessandro Introna ,
Giancarlo Logroscino ,
Christopher Grunseich,
Alec R. Nickolls
and 31 other authors
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Download from www.nature.com
Martijn van de Locht ,
Sandra Donkervoort,
Josine M. de Winter,
de Winter Jm,
Stefan Conijn,
Leon Begthel,
Steven A. Moore ,
Benno Kusters,
Payam Mohassel ,
Ying Hu ,
Livija Medne,
Colin Quinn,
Moore Sa,
A. Reghan Foley ,
Foley Ar
and 20 other authors
,
Sandra Donkervoort,
Josine M. de Winter,
de Winter Jm,
Stefan Conijn,
Leon Begthel,
Steven A. Moore ,
Benno Kusters,
Payam Mohassel ,
Ying Hu ,
Livija Medne,
Colin Quinn,
Moore Sa,
A. Reghan Foley ,
Foley Ar
and 20 other authors
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
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Sandra Coppens ,
Alison M. Barnard,
Sanna Puusepp,
Sander Pajusalu,
Katrin Õunap,
Dorianmarie Vargas-Franco,
Christine C. Bruels,
Sandra Donkervoort,
Lynn Pais,
Katherine R. Chao,
Julia K. Goodrich,
Eleina M. England,
Ben Weisburd,
Vijay S. Ganesh,
Sanna Gudmundsson
and 46 other authors
,
Alison M. Barnard,
Sanna Puusepp,
Sander Pajusalu,
Katrin Õunap,
Dorianmarie Vargas-Franco,
Christine C. Bruels,
Sandra Donkervoort,
Lynn Pais,
Katherine R. Chao,
Julia K. Goodrich,
Eleina M. England,
Ben Weisburd,
Vijay S. Ganesh,
Sanna Gudmundsson
and 46 other authors
A form of muscular dystrophy associated with pathogenic variants in JAG2
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J. P. Taylor,
Hong Joo Kim ,
Payam Mohassel ,
Sandra Donkervoort,
Lin Guo,
Kevin O’Donovan,
Maura Coughlin,
Xaviere Lornage,
Nicola Foulds,
Simon R. Hammans,
A. Reghan Foley,
Charlotte M. Fare,
A. R. Foley,
Alice F. Ford,
Masashi Ogasawara
and 46 other authors
Upload
,
Payam Mohassel ,
Sandra Donkervoort,
Lin Guo,
Kevin O’Donovan,
Maura Coughlin,
Xaviere Lornage,
Nicola Foulds,
Simon R. Hammans,
A. Reghan Foley,
Charlotte M. Fare,
A. R. Foley,
Alice F. Ford,
Masashi Ogasawara
and 46 other authors
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S. Coppens,
A. M. Barnard,
S. Puusepp,
S. Pajusalu,
K. Õunap,
D. Vargas-Franco,
C. C. Bruels,
S. Donkervoort,
L. Pais,
K. R. Chao,
J. K. Goodrich,
E. M. England,
B. Weisburd,
V. S. Ganesh,
S. Gudmundsson
and 43 other authors
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2020
Hai T. Pham,
Vardit Kram,
Qurratul-Ain Dar,
Taishi Komori,
Youngmi Ji,
Payam Mohassel ,
Jachinta Rooney,
Li Li,
Tina M. Kilts,
Carsten Bonnemann,
Shireen Lamande,
Marian F. Young
Download from doi.org
,
Jachinta Rooney,
Li Li,
Tina M. Kilts,
Carsten Bonnemann,
Shireen Lamande,
Marian F. Young
Download from doi.org
Sandra Donkervoort ,
Payam Mohassel ,
Lucia Laugwitz,
Maha S. Zaki,
Erik‐Jan-J. Kamsteeg,
Reza Maroofian,
Katherine R. Chao,
Corien C. Verschuuren‐Bemelmans,
Veronka Horber,
Annemarie J. M. Fock,
Riley M. McCarty,
Minal S. Jain,
Victoria Biancavilla,
Grace McMacken,
Matthew Nalls
and 14 other authors
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,
Payam Mohassel ,
Lucia Laugwitz,
Maha S. Zaki,
Erik‐Jan-J. Kamsteeg,
Reza Maroofian,
Katherine R. Chao,
Corien C. Verschuuren‐Bemelmans,
Veronka Horber,
Annemarie J. M. Fock,
Riley M. McCarty,
Minal S. Jain,
Victoria Biancavilla,
Grace McMacken,
Matthew Nalls
and 14 other authors
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2019
Ying Hu,
Payam Mohassel ,
Sandra Donkervoort,
Pomi Yun,
Véronique Bolduc,
Daniel Ezzo,
Marshall Jl,
Jahannaz Dastgir,
Jamie L. Marshall,
MacArthur Dg,
Monkol Lek,
Daniel G. MacArthur,
Foley Ar,
A. Reghan Foley,
A. Reghan Foley
and 2 other authors
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,
Sandra Donkervoort,
Pomi Yun,
Véronique Bolduc,
Daniel Ezzo,
Marshall Jl,
Jahannaz Dastgir,
Jamie L. Marshall,
MacArthur Dg,
Monkol Lek,
Daniel G. MacArthur,
Foley Ar,
A. Reghan Foley,
A. Reghan Foley
and 2 other authors
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Pejman Mohammadi ,
Stephane E. Castel ,
Beryl B. Cummings ,
Jonah Einson ,
Christina Sousa ,
Paul Hoffman ,
Sandra Donkervoort,
Zhuoxun Jiang,
Payam Mohassel ,
A. Reghan Foley ,
A. Reghan Foley,
Heather E. Wheeler ,
Hae Kyung Im,
Carsten G. Bonnemann ,
Daniel G. MacArthur
and 1 other authors
,
Stephane E. Castel ,
Beryl B. Cummings ,
Jonah Einson ,
Christina Sousa ,
Paul Hoffman ,
Sandra Donkervoort,
Zhuoxun Jiang,
Payam Mohassel ,
A. Reghan Foley ,
A. Reghan Foley,
Heather E. Wheeler ,
Hae Kyung Im,
Carsten G. Bonnemann ,
Daniel G. MacArthur
and 1 other authors
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
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Payam Mohassel ,
Teerin Liewluck,
Ying Hu,
Daniel Ezzo,
Tracy Ogata,
Dimah Saade ,
Sarah Neuhaus,
Véronique Bolduc,
Yaqun Zou,
Sandra Donkervoort,
Livija Medne,
Charlotte J. Sumner,
P. James B. Dyck,
P. James B. Dyck,
Klaas J. Wierenga
and 9 other authors
,
Teerin Liewluck,
Ying Hu,
Daniel Ezzo,
Tracy Ogata,
Dimah Saade ,
Sarah Neuhaus,
Véronique Bolduc,
Yaqun Zou,
Sandra Donkervoort,
Livija Medne,
Charlotte J. Sumner,
P. James B. Dyck,
P. James B. Dyck,
Klaas J. Wierenga
and 9 other authors
Dominant collagen XII mutations cause a distal myopathy
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S. Donkervoort,
R. Sabouny,
P. Yun,
L. Gauquelin,
Kr R. Chao,
Iman Al Khatib,
Y. Hu,
I. Al Khatib,
A. Töpf,
Payam Mohassel ,
Bb B. Cummings,
Dimah Saade ,
Rupleen Kaur,
Moore Sa,
Shutt Te
and 53 other authors
,
Bb B. Cummings,
Dimah Saade ,
Rupleen Kaur,
Moore Sa,
Shutt Te
and 53 other authors
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
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