Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder
Khan, Hamid, Harripaul, Ricardo, Mikhailov, Anna, Herzi, Sumayah, Bowers, Sonya, Ayub, Muhammad, Shabbir, Muhammad Imran, Vincent, John B.
Published in Scientific reports (22.04.2024)
Published in Scientific reports (22.04.2024)
Get full text
Journal Article
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
Pastore, Stephen F., Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, Vincent, John B.
Published in Scientific reports (30.11.2021)
Published in Scientific reports (30.11.2021)
Get full text
Journal Article
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Harripaul, Ricardo, Morini, Elisabetta, Salani, Monica, Logan, Emily, Kirchner, Emily, Bolduc, Jessica, Chekuri, Anil, Currall, Benjamin, Yadav, Rachita, Erdin, Serkan, Talkowski, Michael E., Gao, Dadi, Slaugenhaupt, Susan
Published in Scientific reports (04.01.2024)
Published in Scientific reports (04.01.2024)
Get full text
Journal Article
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Harripaul, Ricardo, Morini, Elisabetta, Salani, Monica, Logan, Emily, Kirchner, Emily, Bolduc, Jessica, Chekuri, Anil, Currall, Benjamin, Yadav, Rachita, Erdin, Serkan, Talkowski, Michael E., Gao, Dadi, Slaugenhaupt, Susan
Published in Scientific reports (02.05.2024)
Published in Scientific reports (02.05.2024)
Get full text
Journal Article
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
Get full text
Journal Article
Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors
Melhuish Beaupre, Lindsay M, Tiwari, Arun K, Gonçalves, Vanessa F, Lisoway, Amanda J, Harripaul, Ricardo S, Müller, Daniel J, Zai, Clement C, Kennedy, James L
Published in Journal of clinical psychopharmacology (01.03.2020)
Published in Journal of clinical psychopharmacology (01.03.2020)
Get more information
Journal Article
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Sheikh, Taimoor I., Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C., Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, Vincent, John B.
Published in Translational psychiatry (05.01.2021)
Published in Translational psychiatry (05.01.2021)
Get full text
Journal Article
Exome sequencing identifies novel and known mutations in families with intellectual disability
Rasheed, Memoona, Khan, Valeed, Harripaul, Ricardo, Siddiqui, Maimoona, Malik, Madiha Amin, Ullah, Zahid, Zahid, Muhammad, Vincent, John B, Ansar, Muhammad
Published in BMC medical genomics (27.08.2021)
Published in BMC medical genomics (27.08.2021)
Get full text
Journal Article
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability
Mittal, Kirti, Rafiq, Muhammad A, Rafiullah, Rafiullah, Harripaul, Ricardo, Ali, Hazrat, Ayaz, Muhammad, Aslam, Muhammad, Naeem, Farooq, Amin-Ud-Din, Muhammad, Waqas, Ahmed, So, Joyce, Rappold, Gudrun A, Vincent, John B, Ayub, Muhammad
Published in Journal of human genetics (01.10.2016)
Published in Journal of human genetics (01.10.2016)
Get full text
Journal Article
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis
GUL, HADIA, SHAH, ABDUL HALEEM, HARRIPAUL, RICARDO, ABBASI, SUMRA WAJID, FAHEEM, MUHAMMAD, ZUBAIR, MUHAMMAD, MUZAMMAL, MUHAMMAD, KHAN, SAADULLAH, VINCENT, JOHN B., KHAN, MUZAMMIL AHMAD
Published in Journal of genetics (01.10.2021)
Published in Journal of genetics (01.10.2021)
Get full text
Journal Article
Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders
Melhuish Beaupre, Lindsay M., Gonçalves, Vanessa F., Zai, Clement C., Tiwari, Arun K., Harripaul, Ricardo S., Herbert, Deanna, Freeman, Natalie, Müller, Daniel J., Kennedy, James L.
Published in Complex psychiatry (01.04.2020)
Published in Complex psychiatry (01.04.2020)
Get full text
Journal Article
Prediction of physical violence in schizophrenia with machine learning algorithms
Wang, Kevin Z., Bani-Fatemi, Ali, Adanty, Christopher, Harripaul, Ricardo, Griffiths, John, Kolla, Nathan, Gerretsen, Philip, Graff, Ariel, De Luca, Vincenzo
Published in Psychiatry research (01.07.2020)
Published in Psychiatry research (01.07.2020)
Get full text
Journal Article
F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA, BIPOLAR AND DEPRESSION COHORTS
Sriretnakumar, Venuja, Harripaul, Ricardo, Vincent, John, Kennedy, James, So, Joyce
Published in Schizophrenia bulletin (01.04.2018)
Published in Schizophrenia bulletin (01.04.2018)
Get full text
Journal Article
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations
Sriretnakumar, Venuja, Harripaul, Ricardo, Vincent, John B., Kennedy, James L., So, Joyce
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2019)
Get full text
Journal Article