Publications by authors named "Ricardo Harripaul"

18 Publications

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

Authors:
Taimoor I Sheikh Nasim Vasli Stephen Pastore Kimia Kharizi Ricardo Harripaul Zohreh Fattahi Shruti Pande Farooq Naeem Abrar Hussain Asif Mir Omar Islam Katta Mohan Girisha Muhammad Irfan Muhammad Ayub Christoph Schwarzer Hossein Najmabadi Anju Shukla Valentina C Sladky Vincent Zoran Braun Irmina Garcia-Carpio Andreas Villunger John B Vincent

Transl Psychiatry 2021 01 5;11(1). Epub 2021 Jan 5.

Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, M5T 1R8, Canada.

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January 2021

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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August 2020

Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders.

Authors:
Lindsay M Melhuish Beaupre Vanessa F Gonçalves Clement C Zai Arun K Tiwari Ricardo S Harripaul Deanna Herbert Natalie Freeman Daniel J Müller James L Kennedy

Mol Neuropsychiatry 2020 Apr 8;5(Suppl 1):34-43. Epub 2020 Jan 8.

Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada.

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April 2020

Prediction of physical violence in schizophrenia with machine learning algorithms.

Authors:
Kevin Z Wang Ali Bani-Fatemi Christopher Adanty Ricardo Harripaul John Griffiths Nathan Kolla Philip Gerretsen Ariel Graff Vincenzo De Luca

Psychiatry Res 2020 07 13;289:112960. Epub 2020 Apr 13.

Group for Suicide Studies, Centre for Addiction and Mental Health, 250 College St, M5T1R8, Toronto, Canada. Electronic address:

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July 2020

Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors.

Authors:
Lindsay M Melhuish Beaupre Arun K Tiwari Vanessa F Gonçalves Amanda J Lisoway Ricardo S Harripaul Daniel J Müller Clement C Zai James L Kennedy

J Clin Psychopharmacol 2020 Mar/Apr;40(2):180-185

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December 2020

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Authors:
Stephen Pastore Ricardo Harripaul Matloob Azam John B Vincent

J Hum Genet 2020 May 3;65(5):493-496. Epub 2020 Mar 3.

Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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May 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Authors:
Ghayda M Mirzaa Jessica X Chong Amélie Piton Bernt Popp Kimberly Foss Hui Guo Ricardo Harripaul Kun Xia Joshua Scheck Kimberly A Aldinger Samin A Sajan Sha Tang Dominique Bonneau Anita Beck Janson White Sonal Mahida Jacqueline Harris Constance Smith-Hicks Juliane Hoyer Christiane Zweier André Reis Christian T Thiel Rami Abou Jamra Natasha Zeid Amy Yang Laura S Farach Laurence Walsh Katelyn Payne Luis Rohena Milen Velinov Alban Ziegler Elise Schaefer Vincent Gatinois David Geneviève Marleen E H Simon Jennefer Kohler Joshua Rotenberg Patricia Wheeler Austin Larson Michelle E Ernst Cigdem I Akman Rachel Westman Patricia Blanchet Lori-Anne Schillaci Catherine Vincent-Delorme Karen W Gripp Francesca Mattioli Gwenaël Le Guyader Bénédicte Gerard Michèle Mathieu-Dramard Gilles Morin Roksana Sasanfar Muhammad Ayub Nasim Vasli Sandra Yang Rick Person Kristin G Monaghan Deborah A Nickerson Ellen van Binsbergen Gregory M Enns Annika M Dries Leah J Rowe Anne C H Tsai Shayna Svihovec Jennifer Friedman Zehra Agha Raheel Qamar Lance H Rodan Julian Martinez-Agosto Charlotte W Ockeloen Marie Vincent William James Sunderland Jonathan A Bernstein Evan E Eichler John B Vincent Michael J Bamshad

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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March 2020

Towards precision medicine in generalized anxiety disorder: Review of genetics and pharmaco(epi)genetics.

Authors:
Julia Tomasi Amanda J Lisoway Clement C Zai Ricardo Harripaul Daniel J Müller Gwyneth C M Zai Randi E McCabe Margaret A Richter James L Kennedy Arun K Tiwari

J Psychiatr Res 2019 12 6;119:33-47. Epub 2019 Sep 6.

Molecular Brain Science Department, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada. Electronic address:

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December 2019

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Authors:
Qing Ouyang Brian C Kavanaugh Lena Joesch-Cohen Bethany Dubois Qing Wu Michael Schmidt Ozan Baytas Stephen F Pastore Ricardo Harripaul Sasmita Mishra Abrar Hussain Katherine H Kim Yolanda F Holler-Managan Muhammad Ayub Asif Mir John B Vincent Judy S Liu Eric M Morrow

Hum Genet 2019 Oct 30;138(10):1183-1200. Epub 2019 Aug 30.

Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, RI, USA.

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October 2019

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Authors:
Hadia Gul Abdul Haleem Shah Ricardo Harripaul Anna Mikhailov Kamalben Prajapati Ejazullah Khan Farman Ullah Muhammad Zubair Muhammad Zeeshan Ali Ayesha Haleem Shah Said Salman Saadullah Khan John B Vincent Muzammil Ahmad Khan

Ann Hum Genet 2019 07 13;83(4):278-284. Epub 2019 Mar 13.

Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.

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July 2019

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Authors:
Venuja Sriretnakumar Ricardo Harripaul John B Vincent James L Kennedy Joyce So

Am J Med Genet B Neuropsychiatr Genet 2019 01 16;180(1):46-54. Epub 2018 Dec 16.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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January 2019

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Authors:
Zohreh Fattahi Taimoor I Sheikh Luciana Musante Memoona Rasheed Ibrahim Ihsan Taskiran Ricardo Harripaul Hao Hu Somayeh Kazeminasab Muhammad Rizwan Alam Masoumeh Hosseini Farzaneh Larti Zhila Ghaderi Arzu Celik Muhammad Ayub Muhammad Ansar Mohammad Haddadi Thomas F Wienker Hans Hilger Ropers Kimia Kahrizi John B Vincent Hossein Najmabadi

Hum Mol Genet 2018 09;27(18):3177-3188

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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September 2018

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene in Pakistani Intellectual Disability Families.

Authors:
Humaira Aziz Sawal Ricardo Harripaul Anna Mikhailov Kayla Vleuten Farooq Naeem Tanveer Nasr Muhammad Jawad Hassan John B Vincent Muhammad Ayub Muhammad Arshad Rafiq

J Pediatr Genet 2018 Jun 21;7(2):60-66. Epub 2017 Dec 21.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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June 2018

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Authors:
Taimoor I Sheikh Ricardo Harripaul Muhammad Ayub John B Vincent

Hum Mutat 2018 05 8;39(5):717-728. Epub 2018 Mar 8.

Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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May 2018

A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain.

Authors:
Kirti Mittal Vanessa F Gonçalves Ricardo Harripaul Ari B Cuperfain Brandi Rollins Arun K Tiwari Clement C Zai Malgorzata Maciukiewicz Daniel J Müller Marquis P Vawter James L Kennedy

Schizophr Res 2017 09 8;187:67-73. Epub 2017 Jul 8.

Neurogenetics Laboratory, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, ON, Canada.

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September 2017

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.

Authors:
Ricardo Harripaul Abdul Noor Muhammad Ayub John B Vincent

Cold Spring Harb Perspect Med 2017 Mar 1;7(3). Epub 2017 Mar 1.

Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario M5T 1R8, Canada.

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March 2017

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Authors:
Kirti Mittal Muhammad A Rafiq Rafiullah Rafiullah Ricardo Harripaul Hazrat Ali Muhammad Ayaz Muhammad Aslam Farooq Naeem Muhammad Amin-Ud-Din Ahmed Waqas Joyce So Gudrun A Rappold John B Vincent Muhammad Ayub

J Hum Genet 2016 Oct 16;61(10):867-872. Epub 2016 Jun 16.

Lahore Institute of Research and Development, Lahore, Pakistan.

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October 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Authors:
Anide Johansen Rasim O Rosti Damir Musaev Evan Sticca Ricardo Harripaul Maha Zaki Ahmet Okay Çağlayan Matloob Azam Tipu Sultan Tawfiq Froukh André Reis Bernt Popp Iltaf Ahmed Peter John Muhammad Ayub Tawfeg Ben-Omran John B Vincent Joseph G Gleeson Rami Abou Jamra

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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October 2016