All papers authored by Stephanie Efthymiou
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2023
Stephanie Efthymiou 
,
Richard J. L. F. Lemmers,
Venugopalan Y. Vishnu ,
Natalia Dominik,
Benedetta Perrone,
Stefano Facchini,
Elisa Vegezzi ,
Sabrina Ravaglia ,
Lindsay Wilson,
Patrick J. van der Vliet,
Rinkle Mishra,
Alisha Reyaz,
Tanveer Ahmad,
Rohit Bhatia,
James M. Polke
and 6 other authors
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,
Richard J. L. F. Lemmers,
Venugopalan Y. Vishnu ,
Natalia Dominik,
Benedetta Perrone,
Stefano Facchini,
Elisa Vegezzi ,
Sabrina Ravaglia ,
Lindsay Wilson,
Patrick J. van der Vliet,
Rinkle Mishra,
Alisha Reyaz,
Tanveer Ahmad,
Rohit Bhatia,
James M. Polke
and 6 other authors
Download from doi.org
Hashem Almousa ,
Sara A. Lewis ,
Somayeh Bakhtiari,
Sandra Hinz Nordlie,
Alex Pagnozzi,
Helen Magee,
Stephanie Efthymiou ,
Jennifer A. Heim,
Patricia Cornejo,
Maha S. Zaki,
Najwa Anwar,
Shazia Maqbool,
Fatima Rahman,
Derek E. Neilson,
Anusha Vemuri
and 45 other authors
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,
Sara A. Lewis ,
Somayeh Bakhtiari,
Sandra Hinz Nordlie,
Alex Pagnozzi,
Helen Magee,
Stephanie Efthymiou ,
Jennifer A. Heim,
Patricia Cornejo,
Maha S. Zaki,
Najwa Anwar,
Shazia Maqbool,
Fatima Rahman,
Derek E. Neilson,
Anusha Vemuri
and 45 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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Lindsay A. Wilson ,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
Neuromuscular disease genetics in under-represented populations: increasing data diversity
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2022
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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2020
Andreea Manole,
Stephanie Efthymiou ,
Emer O’Connor,
Marisa I. Mendes,
Matthew Jennings,
Reza Maroofian,
Indran Davagnanam,
Kshitij Mankad,
Maria Rodriguez Lopez,
Vincenzo Salpietro,
Ricardo Harripaul,
Lauren Badalato,
Jagdeep Walia,
Christopher S. Francklyn,
Alkyoni Athanasiou-Fragkouli
and 77 other authors
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,
Emer O’Connor,
Marisa I. Mendes,
Matthew Jennings,
Reza Maroofian,
Indran Davagnanam,
Kshitij Mankad,
Maria Rodriguez Lopez,
Vincenzo Salpietro,
Ricardo Harripaul,
Lauren Badalato,
Jagdeep Walia,
Christopher S. Francklyn,
Alkyoni Athanasiou-Fragkouli
and 77 other authors
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2019
Andrea Cortese ,
Roberto Simone ,
Roisin Sullivan,
Jana Vandrovcova,
Huma Tariq,
Wai Yan Yau,
Jack Humphrey ,
Zane Jaunmuktane,
Prasanth Sivakumar,
James Polke,
Muhammad Ilyas,
Eloise Tribollet,
Pedro J. Tomaselli,
Grazia Devigili,
Ilaria Callegari
and 15 other authors
Download from www.nature.com
,
Roberto Simone ,
Roisin Sullivan,
Jana Vandrovcova,
Huma Tariq,
Wai Yan Yau,
Jack Humphrey ,
Zane Jaunmuktane,
Prasanth Sivakumar,
James Polke,
Muhammad Ilyas,
Eloise Tribollet,
Pedro J. Tomaselli,
Grazia Devigili,
Ilaria Callegari
and 15 other authors
Download from www.nature.com
Andrea Cortese ,
Roberto Simone ,
Roisin Sullivan ,
Jana Vandrovcova,
Huma Tariq,
Yau Way Yan,
Wai Yan Yau,
Jack Humphrey ,
Zane Jaunmuktane,
Prasanth Sivakumar,
James Polke,
Muhammad Ilyas,
Eloise Tribollet,
Pedro J. Tomaselli,
Grazia Devigili
and 16 other authors
,
Roberto Simone ,
Roisin Sullivan ,
Jana Vandrovcova,
Huma Tariq,
Yau Way Yan,
Wai Yan Yau,
Jack Humphrey ,
Zane Jaunmuktane,
Prasanth Sivakumar,
James Polke,
Muhammad Ilyas,
Eloise Tribollet,
Pedro J. Tomaselli,
Grazia Devigili
and 16 other authors
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
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