All papers authored by Reza Maroofian
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2024
Rauan Kaiyrzhanov 
,
Juan Darío Ortigoza‐Escobar ,
Brett W. Stringer ,
Manizha Ganieva,
Vykuntaraju K. Gowda ,
Varunvenkat M. Srinivasan,
Alfons Macaya ,
Andreas Laner ,
Enas Onbool,
Randa Al‐Shammari,
Mohammed Al‐Owain,
Nicolas Deconinck ,
Catheline Vilain,
Pauline Dontaine,
Eleanor Self
and 15 other authors
,
Juan Darío Ortigoza‐Escobar ,
Brett W. Stringer ,
Manizha Ganieva,
Vykuntaraju K. Gowda ,
Varunvenkat M. Srinivasan,
Alfons Macaya ,
Andreas Laner ,
Enas Onbool,
Randa Al‐Shammari,
Mohammed Al‐Owain,
Nicolas Deconinck ,
Catheline Vilain,
Pauline Dontaine,
Eleanor Self
and 15 other authors
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
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2023
Elisabeth Bosch ,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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Thomas B. Smith ,
Alessandro Rea ,
Huw B. Thomas,
Kyle Thompson,
Monika Oláhová,
Reza Maroofian ,
Mina Zamani,
Langping He,
Saeid Sadeghian ,
Hamid Galehdari,
Nava Shaul Lotan,
Tal Gilboa ,
Kristin C. Herman,
Thomas J. McCorvie ,
Wyatt W. Yue
and 4 other authors
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,
Alessandro Rea ,
Huw B. Thomas,
Kyle Thompson,
Monika Oláhová,
Reza Maroofian ,
Mina Zamani,
Langping He,
Saeid Sadeghian ,
Hamid Galehdari,
Nava Shaul Lotan,
Tal Gilboa ,
Kristin C. Herman,
Thomas J. McCorvie ,
Wyatt W. Yue
and 4 other authors
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Reza Maroofian ,
Rauan Kaiyrzhanov ,
Elisa Cali,
Mina Zamani ,
Maha S. Zaki,
Matteo Ferla ,
Domenico Tortora ,
Saeid Sadeghian ,
Saadia Maryam Saadi,
Uzma Abdullah,
Ehsan Ghayoor Karimiani,
Stephanie Efthymiou ,
Gözde Yeşil,
Shahryar Alavi,
Aisha M. Al Shamsi
and 71 other authors
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,
Rauan Kaiyrzhanov ,
Elisa Cali,
Mina Zamani ,
Maha S. Zaki,
Matteo Ferla ,
Domenico Tortora ,
Saeid Sadeghian ,
Saadia Maryam Saadi,
Uzma Abdullah,
Ehsan Ghayoor Karimiani,
Stephanie Efthymiou ,
Gözde Yeşil,
Shahryar Alavi,
Aisha M. Al Shamsi
and 71 other authors
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2022
Hormos Salimi Dafsari ,
Joshua G. Pemberton,
Elizabeth A. Ferrer,
Tony Yammine,
Chantal Farra,
Mohammad Hasan Mohammadi,
Ehsan Ghayoor Karimiani,
Narges Hashemi,
Mirna Souaid,
Sandra Sabbagh,
Paria Najarzadeh Torbati,
Suliman Khan,
Emmanuel Roze,
Andres Moreno‐De‐Luca ,
Aida M. Bertoli‐Avella
and 3 other authors
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,
Joshua G. Pemberton,
Elizabeth A. Ferrer,
Tony Yammine,
Chantal Farra,
Mohammad Hasan Mohammadi,
Ehsan Ghayoor Karimiani,
Narges Hashemi,
Mirna Souaid,
Sandra Sabbagh,
Paria Najarzadeh Torbati,
Suliman Khan,
Emmanuel Roze,
Andres Moreno‐De‐Luca ,
Aida M. Bertoli‐Avella
and 3 other authors
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Maria B. Christensen ,
Amanda M. Levy ,
Nazanin A. Mohammadi ,
Marcello Niceta ,
Rauan Kaiyrzhanov ,
Maria Lisa Dentici ,
Chadi Al Alam,
Viola Alesi ,
Valérie Benoit ,
Kailash P. Bhatia ,
Tatjana Bierhals,
Christian M. Boßelmann ,
Julien Buratti ,
Bert Callewaert ,
Berten Ceulemans
and 42 other authors
,
Amanda M. Levy ,
Nazanin A. Mohammadi ,
Marcello Niceta ,
Rauan Kaiyrzhanov ,
Maria Lisa Dentici ,
Chadi Al Alam,
Viola Alesi ,
Valérie Benoit ,
Kailash P. Bhatia ,
Tatjana Bierhals,
Christian M. Boßelmann ,
Julien Buratti ,
Bert Callewaert ,
Berten Ceulemans
and 42 other authors
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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Chiara Klöckner ,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
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