All papers authored by Andres Moreno-De-Luca
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2023
Amrita K. Singh,
Garrett Allington 
,
Stephen Viviano,
Stephen McGee,
Emre Kiziltug,
Shaojie Ma,
Shujuan Zhao,
Kedous Y. Mekbib,
John P. Shohfi,
Phan Q. Duy,
Tyrone DeSpenza,
Charuta G. Furey,
Benjamin C. Reeves,
Hannah Smith,
André M. M. Sousa
and 15 other authors
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,
Stephen Viviano,
Stephen McGee,
Emre Kiziltug,
Shaojie Ma,
Shujuan Zhao,
Kedous Y. Mekbib,
John P. Shohfi,
Phan Q. Duy,
Tyrone DeSpenza,
Charuta G. Furey,
Benjamin C. Reeves,
Hannah Smith,
André M. M. Sousa
and 15 other authors
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Kedous Y. Mekbib,
William Muñoz,
Garrett Allington,
Stephen McGee,
Neel H. Mehta,
John P. Shofi,
Carla Fortes,
Hao Thi Le,
Carol Nelson-Williams,
Pranav Nanda,
Evan Dennis ,
Adam J. Kundishora,
Arjun Khanna,
Hannah Smith,
Jack Ocken
and 10 other authors
,
Adam J. Kundishora,
Arjun Khanna,
Hannah Smith,
Jack Ocken
and 10 other authors
Human genetics and molecular genomics of Chiari malformation type 1
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Sheng-Jia Lin,
Barbara Vona,
Tracy Lau,
Kevin Huang,
Maha S. Zaki,
Huda Shujaa Aldeen,
Ehsan Ghayoor Karimiani,
Clarissa Rocca,
Mahmoud M. Noureldeen,
Ahmed K. Saad,
Cassidy Petree,
Tobias Bartolomaeus,
Rami Abou Jamra,
Giovanni Zifarelli,
Aditi Gotkhindikar
and 22 other authors
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
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Ana B. W. Greenberg,
Neel H. Mehta,
Garrett Allington,
Sheng Chih Jin,
Andrés Moreno-De-Luca ,
Kristopher T. Kahle
,
Kristopher T. Kahle
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus
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Shujuan Zhao ,
Kedous Y. Mekbib ,
Martijn A. van der Ent,
Garrett Allington ,
Andrew Prendergast,
Jocelyn E. Chau ,
Hannah Smith,
John Shohfi,
Jack Ocken,
Daniel Duran ,
Charuta G. Furey,
Le Thi Hao,
Phan Q. Duy,
Benjamin C. Reeves ,
Junhui Zhang
and 51 other authors
,
Kedous Y. Mekbib ,
Martijn A. van der Ent,
Garrett Allington ,
Andrew Prendergast,
Jocelyn E. Chau ,
Hannah Smith,
John Shohfi,
Jack Ocken,
Daniel Duran ,
Charuta G. Furey,
Le Thi Hao,
Phan Q. Duy,
Benjamin C. Reeves ,
Junhui Zhang
and 51 other authors
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
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Scott M. Myers,
Christa L. Martin,
Andres Moreno-De-Luca
Implications of Genetic Variants in Cerebral Palsy—Reply
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Andrés Moreno-De-Luca
It's time to offer genetic testing to all individuals diagnosed with cerebral palsy
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Adam J. Kundishora ,
Garrett Allington ,
Stephen McGee ,
Kedous Y. Mekbib ,
Vladimir Gainullin,
Andrew T. Timberlake ,
Carol Nelson-Williams ,
Emre Kiziltug,
Hannah Smith,
Jack Ocken,
John Shohfi,
August Allocco,
Phan Q. Duy ,
Aladine A. Elsamadicy,
Weilai Dong
and 21 other authors
Download from www.nature.com
,
Garrett Allington ,
Stephen McGee ,
Kedous Y. Mekbib ,
Vladimir Gainullin,
Andrew T. Timberlake ,
Carol Nelson-Williams ,
Emre Kiziltug,
Hannah Smith,
Jack Ocken,
John Shohfi,
August Allocco,
Phan Q. Duy ,
Aladine A. Elsamadicy,
Weilai Dong
and 21 other authors
Download from www.nature.com
Afshin Saffari,
Tracy Lau ,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Download from academic.oup.com
2022
Sayaka Kayumi ,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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Rauan Kaiyrzhanov ,
Maha S. Zaki,
Tracy Lau ,
Sambuddha Sen,
Reza Azizimalamiri,
Mina Zamani,
Gözde Yeşil Sayin,
Taru Hilander,
Stephanie Efthymiou,
Viorica Chelban ,
Ruth Brown,
Kyle Thompson,
Maria Irene Scarano,
Jaya Ganesh,
Kairgali Koneev
and 31 other authors
,
Maha S. Zaki,
Tracy Lau ,
Sambuddha Sen,
Reza Azizimalamiri,
Mina Zamani,
Gözde Yeşil Sayin,
Taru Hilander,
Stephanie Efthymiou,
Viorica Chelban ,
Ruth Brown,
Kyle Thompson,
Maria Irene Scarano,
Jaya Ganesh,
Kairgali Koneev
and 31 other authors
Phenotypic continuum of NFU1 ‐related disorders
Download from onlinelibrary.wiley.com
Sara Nagy,
Tracy Lau,
Shahryar Alavi ,
Ehsan Ghayoor Karimiani,
Jalal Vallian,
Bobby G. Ng,
Samaneh Noroozi Asl,
Javad Akhondian,
Amir Bahreini,
Omid Yaghini,
Prech Uapinyoying,
Carsten Bonnemann,
Hudson H. Freeze,
Vajira H. W. Dissanayake,
Nirmala D. Sirisena
and 4 other authors
,
Ehsan Ghayoor Karimiani,
Jalal Vallian,
Bobby G. Ng,
Samaneh Noroozi Asl,
Javad Akhondian,
Amir Bahreini,
Omid Yaghini,
Prech Uapinyoying,
Carsten Bonnemann,
Hudson H. Freeze,
Vajira H. W. Dissanayake,
Nirmala D. Sirisena
and 4 other authors
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
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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
Download from onlinelibrary.wiley.com
,
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
Download from onlinelibrary.wiley.com
Phan Q. Duy ,
Stefan C. Weise,
Claudia Marini,
Xiao-Jun Li,
Dan Liang,
Peter J. Dahl,
Shaojie Ma ,
Ana Spajic,
Weilai Dong ,
Jane Juusola,
Emre Kiziltug,
Adam J. Kundishora,
Sunil Koundal,
Maysam Z. Pedram,
Lucia A. Torres-Fernández
and 52 other authors
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,
Stefan C. Weise,
Claudia Marini,
Xiao-Jun Li,
Dan Liang,
Peter J. Dahl,
Shaojie Ma ,
Ana Spajic,
Weilai Dong ,
Jane Juusola,
Emre Kiziltug,
Adam J. Kundishora,
Sunil Koundal,
Maysam Z. Pedram,
Lucia A. Torres-Fernández
and 52 other authors
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Juliann M. Savatt,
Hermela Shimelis,
Andres Moreno De-Luca ,
Natasha T. Strande,
Matthew T. Oetjens,
David H. Ledbetter,
Christa Lese Martin,
Scott M. Myers,
Brenda M. Finucane
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,
Natasha T. Strande,
Matthew T. Oetjens,
David H. Ledbetter,
Christa Lese Martin,
Scott M. Myers,
Brenda M. Finucane
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