N
Naiara Akizu
Researcher at University of California, San Diego
Publications - 25
Citations - 1756
Naiara Akizu is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Exome sequencing & Microcephaly. The author has an hindex of 15, co-authored 21 publications receiving 1518 citations. Previous affiliations of Naiara Akizu include Howard Hughes Medical Institute & University of Pennsylvania.
Papers
More filters
Journal ArticleDOI
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino,Ali G. Fenstermaker,Maha S. Zaki,Matan Hofree,Jennifer L. Silhavy,Andrew Heiberg,Mostafa Abdellateef,Basak Rosti,Eric Scott,Lobna Mansour,Amira Masri,Hülya Kayserili,Jumana Y. Al-Aama,Ghada M H Abdel-Salam,Ariana Karminejad,Majdi Kara,Bülent Kara,Bita Bozorgmehri,Tawfeg Ben-Omran,Faezeh Mojahedi,Iman G. Mahmoud,Naima Bouslam,Ahmed Bouhouche,Ali Benomar,Sylvain Hanein,Laure Raymond,Sylvie Forlani,Massimo Mascaro,Laila Selim,Nabil Shehata,Nasir A. S. Al-Allawi,Parayil Sankaran Bindu,Matloob Azam,Murat Gunel,Ahmet Okay Caglayan,Kaya Bilguvar,Aslıhan Tolun,Mahmoud Y. Issa,Jana Schroth,Emily Spencer,Rasim Ozgur Rosti,Naiara Akizu,Keith K. Vaux,Anide Johansen,Alice A. Koh,Hisham Megahed,Alexandra Durr,Alexis Brice,Giovanni Stevanin,S. Gabriel,Trey Ideker,Joseph G. Gleeson +51 more
TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Journal ArticleDOI
Exome Sequencing Can Improve Diagnosis and Alter Patient Management
Tracy Dixon-Salazar,Jennifer L. Silhavy,Nitin Udpa,Jana Schroth,Stephanie L. Bielas,Ashleigh E. Schaffer,Jesus Olvera,Vineet Bafna,Maha S. Zaki,Ghada M. H. Abdel-Salam,Lobna Mansour,Laila Selim,Sawsan Abdel-Hadi,Naima Marzouki,Tawfeg Ben-Omran,Nouriya A. Al-Saana,F. Müjgan Sönmez,Figen Celep,Matloob Azam,Kiley J. Hill,Adrienne Collazo,Ali G. Fenstermaker,Gaia Novarino,Naiara Akizu,Kiran V. Garimella,Carrie Sougnez,Carsten Russ,Stacey Gabriel,Joseph G. Gleeson +28 more
TL;DR: Exome sequencing of 118 patients with neurodevelopmental disorders shows that this technique is useful for identifying new pathogenic mutations and for correcting diagnosis in ~10% of cases, and provides proof of principle that genomic strategies are useful in clarifying diagnosis in a proportion of patients with neurological disorders.
Journal ArticleDOI
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Alicia Guemez-Gamboa,Long N. Nguyen,Hongbo Yang,Maha S. Zaki,Majdi Kara,Tawfeg Ben-Omran,Naiara Akizu,Rasim Ozgur Rosti,Basak Rosti,Eric Scott,Jana Schroth,Brett Copeland,Keith K. Vaux,Amaury Cazenave-Gassiot,Debra Q Y Quek,Bernice H. Wong,Bryan C. Tan,Markus R. Wenk,Murat Gunel,Stacey Gabriel,Neil C. Chi,David L. Silver,Joseph G. Gleeson +22 more
TL;DR: The results establish a link between transport of DHA and LPCs by MFSD2A and human brain growth and function, presenting the first evidence of monogenic disease related to transport ofDHA in humans.
Journal ArticleDOI
Modeling Human Disease in Humans: The Ciliopathies
TL;DR: The ciliopathies, a class of multi-organ diseases caused by disruption of the primary cilium, are focused on, through a convergence of data involving mutant gene discovery, proteomics, and cell biology, more than a dozen phenotypically distinguishable conditions are now united as ciliopathic conditions.
Journal ArticleDOI
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu,Vincent Cantagrel,Maha S. Zaki,Lihadh Al-Gazali,Xin Wang,Rasim Ozgur Rosti,Esra Dikoglu,Antoinette Gelot,Basak Rosti,Keith K. Vaux,Eric Scott,Jennifer L. Silhavy,Jana Schroth,Brett Copeland,Ashleigh E. Schaffer,Philip L.S.M. Gordts,Jeffrey D. Esko,Matthew D. Buschman,Seth J. Field,Gennaro Napolitano,Ghada M H Abdel-Salam,R. Köksal Özgül,Mahmut Şamil Sağıroğlu,Matloob Azam,Samira Ismail,Mona Aglan,Laila Selim,Iman G. Mahmoud,Sawsan Abdel-Hadi,Amera El Badawy,Abdelrahim Abdrabou Sadek,Faezeh Mojahedi,Hülya Kayserili,Amira Masri,Laila Bastaki,Samia A. Temtamy,Ulrich Müller,Isabelle Desguerre,Jean-Laurent Casanova,Ali Dursun,Murat Gunel,Stacey Gabriel,Pascale de Lonlay,Joseph G. Gleeson +43 more
TL;DR: A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.