G
Gaia Novarino
Researcher at Institute of Science and Technology Austria
Publications - 53
Citations - 2443
Gaia Novarino is an academic researcher from Institute of Science and Technology Austria. The author has contributed to research in topics: Haploinsufficiency & Biology. The author has an hindex of 18, co-authored 45 publications receiving 1911 citations. Previous affiliations of Gaia Novarino include University of California, San Diego & Sapienza University of Rome.
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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
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Gaia Novarino,Paul El-Fishawy,Hülya Kayserili,Nagwa A. Meguid,Eric Scott,Jana Schroth,Jennifer L. Silhavy,Majdi Kara,Rehab O. Khalil,Tawfeg Ben-Omran,A. Gulhan Ercan-Sencicek,Adel F. Hashish,Stephen Sanders,Abha R. Gupta,Hebatalla S. Hashem,Dietrich Matern,Stacey Gabriel,Larry Sweetman,Yasmeen Rahimi,Robert A. Harris,Matthew W. State,Joseph G. Gleeson +21 more
TL;DR: Inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) are identified in consanguineous families with autism, epilepsy, and intellectual disability and represents a potentially treatable syndrome.
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
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Dora C. Tărlungeanu,Elena Deliu,Christoph P. Dotter,Majdi Kara,Philipp Christoph Janiesch,Mariafrancesca Scalise,Michele Galluccio,Mateja Tesulov,Emanuela Morelli,Fatma Mujgan Sonmez,Kaya Bilguvar,Ryuichi Ohgaki,Yoshikatsu Kanai,Anide Johansen,Seham Esharif,Tawfeg Ben-Omran,Meral Topçu,Avner Schlessinger,Cesare Indiveri,Kent E. Duncan,Ahmet Okay Caglayan,Ahmet Okay Caglayan,Murat Gunel,Joseph G. Gleeson,Gaia Novarino +24 more
TL;DR: It is shown that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs and demonstrates that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice.
Journal ArticleDOI
Neurodevelopmental Disorders: From Genetics to Functional Pathways.
TL;DR: The multiple factors that influence the clinical presentation of NDDs are discussed, with particular attention to gene vulnerability, mutational load, and the two-hit model.