Publications by authors named "Ricardo Harripaul"

18 Publications

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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.

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.

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

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

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.

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.

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.

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

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

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

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

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.

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.

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

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