John B Vincent (John Vincent)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Duchenne Muscular Dystrophy

Top Venues

medRxiv : the preprint server for health sciences

Translational psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon J Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin Sean O'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole Andreas Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne A Bengesser, Joanna M Biernacka, Michael Boehnke, Rosa Bosch, Murray J Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark A Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, Javier Ramos-Martín, Tim Hahn, Frans A Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian R Jones, Lina Jonsson, John R Kelsoe, Tilo T J Kircher, George Kirov, Katharina Lichter, Manolis Kogevinas, Mikaél Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral-Cleries, Susan L McElroy, Nathaniel W McGregor, Andrew M McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Igor Nenadić, Markus Maria Nöthen, Claire O'Donavan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Christos Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribases, Marcella D C Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Artigas María Soler, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie-H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Fine-mapping genomic loci refines bipolar disorder risk genes. medRxiv : the preprint server for health sciences (2024)
Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon J Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin Sean O'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole Andreas Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne A Bengesser, Joanna M Biernacka, Michael Boehnke, Rosa Bosch, Murray J Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark A Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, Javier Ramos-Martín, Tim Hahn, Frans A Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian R Jones, Lina Jonsson, John R Kelsoe, Tilo T J Kircher, George Kirov, Katharina Lichter, Manolis Kogevinas, Mikaél Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral-Cleries, Susan L McElroy, Nathaniel W McGregor, Andrew M McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Igor Nenadić, Markus Maria Nöthen, Claire O'Donavan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Christos Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribases, Marcella D C Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Artigas María Soler, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie-H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Fine-mapping genomic loci refines bipolar disorder risk genes. medRxiv : the preprint server for health sciences (2024)
Connie T Y Xie, Stephen F Pastore, John B Vincent, Paul W Frankland, Paul A Hamel
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability. Cells 13 (2) (2024)
Connie T Y Xie, Stephen F Pastore, John B Vincent, Paul W Frankland, Paul A Hamel
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability. Cells 13 (2) (2024)
Connie T Y Xie, Stephen F Pastore, John B Vincent, Paul W Frankland, Paul A Hamel
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability. Cells 13 (2) (2024)
Connie T Y Xie, Stephen F Pastore, John B Vincent, Paul W Frankland, Paul A Hamel
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability. Cells 13 (2) (2024)
Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon J Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin Sean O'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole Andreas Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne A Bengesser, Joanna M Biernacka, Michael Boehnke, Rosa Bosch, Murray J Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark A Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, Javier Ramos-Martín, Tim Hahn, Frans A Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian R Jones, Lina Jonsson, John R Kelsoe, Tilo T J Kircher, George Kirov, Katharina Lichter, Manolis Kogevinas, Mikaél Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral-Cleries, Susan L McElroy, Nathaniel W McGregor, Andrew M McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Igor Nenadić, Markus Maria Nöthen, Claire O'Donavan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Christos Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribases, Marcella D C Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Artigas María Soler, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie-H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Fine-mapping genomic loci refines bipolar disorder risk genes. medRxiv : the preprint server for health sciences (2024)
Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon J Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin Sean O'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole Andreas Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne A Bengesser, Joanna M Biernacka, Michael Boehnke, Rosa Bosch, Murray J Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark A Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, Javier Ramos-Martín, Tim Hahn, Frans A Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian R Jones, Lina Jonsson, John R Kelsoe, Tilo T J Kircher, George Kirov, Katharina Lichter, Manolis Kogevinas, Mikaél Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral-Cleries, Susan L McElroy, Nathaniel W McGregor, Andrew M McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Igor Nenadić, Markus Maria Nöthen, Claire O'Donavan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Christos Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribases, Marcella D C Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Artigas María Soler, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie-H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Fine-mapping genomic loci refines bipolar disorder risk genes. medRxiv : the preprint server for health sciences (2024)
Stephen F Pastore, Sangyoon Y Ko, Paul W Frankland, Paul A Hamel, John B Vincent
PTCHD1 : Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. Genes 13 (3) (2022)
Rebecca S F Mok, Wenbo Zhang, Taimoor I Sheikh, Kartik Pradeepan, Isabella R Fernandes, Leah C DeJong, Gabriel Benigno, Matthew R Hildebrandt, Marat Mufteev, Deivid C Rodrigues, Wei Wei, Alina Piekna, Jiajie Liu, Alysson Renato Muotri, John B Vincent, Lyle E Muller, Julio C Martinez-Trujillo, Michael W Salter, James Ellis
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Translational psychiatry 12 (1) (2022)
Ansa Rabia, Ricardo Harripaul, Anna Mikhailov, Saqib Mahmood, Shazia Maqbool, John B Vincent, Muhammad Ayub
Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan. Genes 13 (9) (2022)
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
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. Translational psychiatry 11 (1) (2021)
Xiaoming Jia, Fernando S Goes, Adam E Locke, Duncan S Palmer, Weiqing Wang, Sarah Cohen-Woods, Giulio Genovese, Anne U Jackson, Chen Jiang, Mark Kvale, Niamh Mullins, Tan-Hoang Nguyen, Mehdi Pirooznia, Margarita Rivera, Douglas M Ruderfer, Ling Shen, Khanh Thai, Matthew Zawistowski, Yongwen Zhuang, Gonçalo R Abecasis, Huda Akil, Sarah E Bergen, Margit Burmeister, Sinéad Chapman, Melissa DelaBastide, Anders Juréus, Hyun Min Kang, Pui-Yan Kwok, Jun Z Li, Shawn E Levy, Eric T Monson, Jennifer Moran, Janet Sobell, Stanley J Watson, Virginia Willour, Sebastian Zöllner, Rolf Adolfsson, Douglas H R Blackwood, Michael Boehnke, Gerome D Breen, Aiden Corvin, Nick Craddock, Arianna DiFlorio, Christina M Hultman, Mikaél Landén, Cathryn M Lewis, Steven A McCarroll, W Richard McCombie, Peter McGuffin, Andrew M McIntosh, Andrew McQuillin, Derek W Morris, Richard M Myers, Michael C O'Donovan, Roel Ophoff, Marco P M Boks, Rene S Kahn, Willem Hendrik Ouwehand, Michael J Owen, Carlos Pato, Michele Pato, Danielle Posthuma, James B Potash, Andreas Reif, Pamela Sklar, Jordan Smoller, Patrick F Sullivan, John B Vincent, James Walters, Benjamin M Neale, Shaun M Purcell, Neil Risch, Catherine Schaefer, Eli A Stahl, Peter P Zandi, Laura J Scott
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Molecular psychiatry 26 (9) (2021)
Taimoor I Sheikh, Ricardo Harripaul, Nasim Vasli, Majid Ghadami, Susan L Santangelo, Muhammad Ayub, Roksana Sasanfar, John B Vincent
Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization. Genes 13 (1) (2021)
Maha Saad Zaki, Andrea Accogli, Ghayda M Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G Gleeson, Reza Maroofian
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. European journal of human genetics : EJHG 29 (8) (2021)
Stephen Pastore, Ricardo Harripaul, Matloob Azam, John B Vincent
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. Journal of human genetics 65 (5) (2020)
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C Sierant, Sheetal Shetty, Sandra M Nordlie, Aureliane Elie, Mark A Corbett, Bethany Y Norton, Clare L van Eyk, Shozeb M Haider, Brandon S Guida, Helen Magee, James Liu, Stephen Pastore, John B Vincent, Janice Brunstrom-Hernandez, Antigone S Papavasiliou, Michael Collingwood Fahey, Jesia G Berry, Kelly Harper, Chongchen Zhou, Junhui Zhang, Boyang Li, Hongyu Zhao, Jennifer Heim, Dani L Webber, Mahalia S B Frank, Lei Xia, Yiran Xu, Dengna Zhu, Bohao Zhang, Amar H Sheth, James R Knight, Christopher Castaldi, Irina R Tikhonova, Francesc Lopez, Boris Keren, Sandra Whalen, Julien Buratti, Diane Doummar, Megan Cho, Kyle Retterer, Francisca Millan, Yangong Wang, Jeff L Waugh, Lance Rodan, Julie S Cohen, Ali Fatemi, Angela E Lin, John P Phillips, Timothy Feyma, Suzanna C MacLennan, Spencer W Vaughan, Kylie E Crompton, Susan M Reid, Dinah Susan Reddihough, Qing Shang, Chao Gao, Iona Novak, Nadia Badawi, Yana A Wilson, Sarah J McIntyre, Shrikant M Mane, Xiaoyang Wang, David J Amor, Daniela C Zarnescu, Qiongshi Lu, Qinghe Xing, Changlian Zhu, Kaya Bilguvar, Sergio Padilla-Lopez, Richard P Lifton, Jozef Gecz, Alastair H MacLennan, Michael C Kruer
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature genetics 52 (10) (2020)
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
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. Human genetics 138 (10) (2019)
Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincent
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro. Human mutation 39 (5) (2018)