Clinical, Genetic and Functional Characterization of a Novel <i>AVPR2</i> Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

by Senthil Selvaraj, Dírcea Rodrigues, Navaneethakrishnan Krishnamoorthy, Khalid A. Fakhro, Luís R. Saraiva, Manuel C. Lemos
Published 2022-01-01

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

by Giorgia Girotto, Giorgia Girotto, Anna Morgan, Anna Morgan, Navaneethakrishnan Krishnamoorthy, Navaneethakrishnan Krishnamoorthy, Massimiliano Cocca, Marco Brumat, Marco Brumat, Sissy Bassani, Sissy Bassani, Martina La Bianca, Mariateresa Di Stazio, Mariateresa Di Stazio, Paolo Gasparini, Paolo Gasparini
Published 2019-02-01

Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.

by Poornima Gajendrarao, Navaneethakrishnan Krishnamoorthy, Heba Sh Kassem, Sarah Moharem-Elgamal, Franco Cecchi, Iacopo Olivotto, Magdi H Yacoub
Published 2013-01-01

Functional Characterization of the <i>MYO6</i> Variant p.E60Q in Non-Syndromic Hearing Loss Patients

by Moza Alkowari, Meritxell Espino-Guarch, Sahar Daas, Doua Abdelrahman, Waseem Hasan, Navaneethakrishnan Krishnamoorthy, Abbirami Sathappan, Patrick Sheehan, Nicholas Van Panhuys, The Qatar Genome Program Research Consortium, Xavier Estivill
Published 2022-03-01

P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank

by Geethanjali Devadoss Gandhi, Najeeb Syed, Fazulur Vempalli, Mona Abdi, Elbay Aliyev, Navaneethakrishnan Krishnamoorthy, Chadi Saad, Hamdi Mbarek, Ramin Badii, Qatar Genome Program Research Consortium, Ammira Akil, Tawfeg Ben-Omran, Khalid Fakhro
Published 2024-01-01

A Neutrophil-Driven Inflammatory Signature Characterizes the Blood Transcriptome Fingerprint of Psoriasis

by Arun Rawat, Darawan Rinchai, Mohammed Toufiq, Alexandra K. Marr, Tomoshige Kino, Mathieu Garand, Zohreh Tatari-Calderone, Basirudeen Syed Ahamed Kabeer, Navaneethakrishnan Krishnamoorthy, Davide Bedognetti, Davide Bedognetti, Mohammed Yousuf Karim, Konduru S. Sastry, Damien Chaussabel
Published 2020-11-01

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank

by Geethanjali Devadoss Gandhi, Waleed Aamer, Navaneethakrishnan Krishnamoorthy, Najeeb Syed, Elbay Aliyev, Aljazi Al-Maraghi, Muhammad Kohailan, Jamil Alenbawi, Mohammed Elanbari, Qatar Genome Program Research Consortium (QGPRC), Borbala Mifsud, Younes Mokrab, Charbel Abi Khalil, Khalid A. Fakhro
Published 2022-11-01

Burden of Mendelian disorders in a large Middle Eastern biobank

by Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro
Published 2024-04-01