Stephen W Scherer (Stephen Scherer, S W Scherer)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 76

Top Venues

Molecular psychiatry

medRxiv : the preprint server for health sciences

NPJ genomic medicine

Research square

The Hospital for Sick Children

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

Affiliation History

The Hospital for Sick Children

Canada

Director and Senior Scientist :: Genetics and Genome Bioogy

University of Toronto

Canada

Professor :: Molecular Genetics

University of Toronto

Canada

Director :: McLaughlin Centre

Publications

Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics (2024)
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Brett Trost, Jennifer L Howe, Giovanna Pellecchia, Thomas Nalpathamkalam, Roumiana Alexandrova, Nelson Bautista Salazar, Ethan Alexander McKee, Natalia Rivera Alfaro, Meng-Chuan Lai, Sara Bandres-Ciga, Delnaz Roshandel, Clarrisa A Bradley, Evdokia Anagnostou, Lei Sun, Stephen W Scherer
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder. medRxiv : the preprint server for health sciences (2024)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Ann Swillen, Therese van Amelsvoort, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Sean Gallagher, Emily McClellan, Lauren White, Terrence Blaine Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica H Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles Olivier Martin, Khadije Jizi, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel E Gur
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular psychiatry (2024)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Ann Swillen, Therese van Amelsvoort, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Sean Gallagher, Emily McClellan, Lauren White, Terrence Blaine Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica H Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles Olivier Martin, Khadije Jizi, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel E Gur
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular psychiatry (2024)
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Brett Trost, Jennifer L Howe, Giovanna Pellecchia, Thomas Nalpathamkalam, Roumiana Alexandrova, Nelson Bautista Salazar, Ethan Alexander McKee, Natalia Rivera Alfaro, Meng-Chuan Lai, Sara Bandres-Ciga, Delnaz Roshandel, Clarrisa A Bradley, Evdokia Anagnostou, Lei Sun, Stephen W Scherer
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder. medRxiv : the preprint server for health sciences (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Brett Trost, Jennifer L Howe, Giovanna Pellecchia, Thomas Nalpathamkalam, Roumiana Alexandrova, Nelson Bautista Salazar, Ethan Alexander McKee, Natalia Rivera Alfaro, Meng-Chuan Lai, Sara Bandres-Ciga, Delnaz Roshandel, Clarrisa A Bradley, Evdokia Anagnostou, Lei Sun, Stephen W Scherer
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder. medRxiv : the preprint server for health sciences (2024)
Si Lok, Timothy N H Lau, Brett Trost, Amy H Y Tong, Tara Paton, Richard F Wintle, Mark D Engstrom, Anne Gunn, Stephen W Scherer
Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics. Scientific reports 14 (1) (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Miriam S Reuter, Dustin J Sokolowski, J Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A Chiasson, Troy Ketela, Stephen W Scherer, Michael D Wilson, Edgar Jaeggi, Rajiv R Chaturvedi
Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling. Communications biology 6 (1) (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan Henje Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human molecular genetics (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, null null, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv : the preprint server for health sciences (2023)
Brianna K Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Bradley W Doble, Laurence Faivre, Antonio Vitobello, Stephen W Scherer, Yu Lu, Peter Penzes, Karun K Singh
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Molecular psychiatry (2023)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (2023)
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, null null, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv : the preprint server for health sciences (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, null null, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv : the preprint server for health sciences (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Brianna K Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Bradley W Doble, Laurence Faivre, Antonio Vitobello, Stephen W Scherer, Yu Lu, Peter Penzes, Karun K Singh
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Molecular psychiatry (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Brianna K Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Bradley W Doble, Laurence Faivre, Antonio Vitobello, Stephen W Scherer, Yu Lu, Peter Penzes, Karun K Singh
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Molecular psychiatry (2023)
Claudia I Samogy Costa, Gabriele Campos, Eduarda Morgana da Silva Montenegro, Jaqueline Yu Ting Wang, Marília Scliar, Frederico Monfardini, Elaine Cristina Zachi, Naila C V Lourenço, Ada J S Chan, Sergio L Pereira, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Mehdi Zarrei, Stephen W Scherer, Maria Rita Passos-Bueno
Three generation families: Analysis of de novo variants in autism. European journal of human genetics : EJHG (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, null null, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv : the preprint server for health sciences (2023)
Raquel C Gur, Carrie E Bearden, Sebastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne B M van den Bree, Jacob A S Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet C Harwood, Samuel J R A Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen W Scherer, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel Gur
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research square (2023)
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D Anderson, Arun K Ramani, Kyoko E Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D Wasserman, Rosemarie E Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A Whitlock, Stephen W Scherer, Kathy Chun, Martin J Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramsawami, Gino R Somers, Lianna Kyriakopoulou, Johann K Hitzler, Mary Shago, Daniel A Morgenstern, Uri Tabori, Stephen Meyn, Meredith S Irwin, David Malkin, Adam Shlien
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature cancer (2022)
Miguel Ramirez, Yuliya Badayeva, Joanna Yeung, Joshua Wu, Ayasha Abdalla-Wyse, Erin Yang, null null, Brett Trost, Stephen W Scherer, Daniel Goldowitz
Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions. eLife 11 (2022)
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V Patel, Wilson W L Sung, Jeffrey R MacDonald, Jennifer L Howe, Jacob A S Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J Stavropoulos, Ryan K C Yuen, Bridget A Fernandez, Stephen W Scherer
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Nature communications 13 (1) (2022)
Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W L Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, M Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J Rao, Jayaprakash Shenthar, Perundurai S Dhandapany, Christopher Semsarian, Robert G Weintraub, Richard Douglas Bagnall, Jodie Ingles, null null, Marta Melé, Philipp G Maass, James Ellis, Stephen W Scherer, Seema Mital
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. NPJ genomic medicine 7 (1) (2022)
Bahareh A Mojarad, Worrawat Engchuan, Brett Trost, Ian Backstrom, Yue Yin, Bhooma Thiruvahindrapuram, Linda Pallotto, Aleksandra Mitina, Mahreen Khan, Giovanna Pellecchia, Bushra Haque, Keyi Guo, Tracy Heung, Gregory Costain, Stephen W Scherer, Christian R Marshall, Christopher E Pearson, Anne Susan Bassett, Ryan K C Yuen
Genome-wide tandem repeat expansions contribute to schizophrenia risk. Molecular psychiatry 27 (9) (2022)
Yi Liu, Yuqiang Lv, Mehdi Zarrei, Rui Dong, Xiaomeng Yang, Edward J Higginbotham, Yue Li, Dongmei Zhao, Fengling Song, Yali Yang, Haiyan Zhang, Ying Wang, Stephen W Scherer, Zhongtao Gai
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay. NPJ genomic medicine 7 (1) (2022)
André Luíz Teles E Silva, Talita Glaser, Karina Griesi-Oliveira, Juliana Corrêa-Velloso, Jaqueline Yu Ting Wang, Gabriele da Silva Campos, Henning Ulrich, Andrea Balan, Mehdi Zarrei, Edward J Higginbotham, Stephen W Scherer, Maria Rita Passos-Bueno, Andrea Laurato Sertié
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Translational psychiatry 12 (1) (2022)
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan Alkuraya, Stephen W Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Neves, Sergio Sousa, Rosanna Weksberg
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human molecular genetics (2022)
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W Scherer, Valerie A Arboleda, Bianca E Russell, Rosanna Weksberg
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. European journal of human genetics : EJHG 30 (6) (2022)
Miriam S Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, Stephen W Scherer, Sabine Rudnik-Schöneborn, Anne Susan Bassett, Davor Lessel
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. European journal of human genetics : EJHG 30 (5) (2022)
Brett Trost, Livia O Loureiro, Stephen W Scherer
Discovery of genomic variation across a generation. Human molecular genetics 30 (R2) (2022)
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James E Dowling, Rosanna Weksberg
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain : a journal of neurology (2022)
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D Anderson, Arun K Ramani, Kyoko E Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D Wasserman, Rosemarie E Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A Whitlock, Stephen W Scherer, Kathy Chun, Martin J Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramsawami, Gino R Somers, Lianna Kyriakopoulou, Johann K Hitzler, Mary Shago, Daniel A Morgenstern, Uri Tabori, Stephen Meyn, Meredith S Irwin, David Malkin, Adam Shlien
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature cancer 4 (2) (2022)
Islam Oguz Tuncay, Nancy L Parmalee, Raida Khalil, Kiran Kaur, Ashwani Kumar, Mohamed Jimale, Jennifer L Howe, Kimberly Goodspeed, Patricia Evans, Loai Alzghoul, Chao Xing, Stephen W Scherer, Maria H Chahrour
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. NPJ genomic medicine 7 (1) (2022)
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Mahshid S Azamian, Casie A Genetti, Pankaj B Agrawal, Jonathan Picker, Monica Hsiung Wojcik, Mauricio R Delgado, Sally-Ann Lynch, Stephen W Scherer, Jennifer L Howe, Carlos A Bacino, Stephanie DiTroia, Grace E VanNoy, Anne H O'Donnell-Luria, Seema R Lalani, William D Graf, Jill Anne Rosenfeld, Evan E Eichler, Rachel K Earl, Daryl A Scott
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Human mutation 43 (4) (2022)
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a journal of neurology (2022)
Angelina Palacios-Muñoz, Danielle de Paula Moreira, Valeria Silva, Isaac E García, Francisco Aboitiz, Mehdi Zarrei, Gabriele Campos, Olivia Rennie, Jennifer L Howe, Evdokia Anagnostou, Patricia Ambrozewic, Stephen W Scherer, Maria Rita Passos-Bueno, John Ewer
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. Molecular psychiatry 27 (8) (2022)
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D Anderson, Arun K Ramani, Kyoko E Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D Wasserman, Rosemarie E Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A Whitlock, Stephen W Scherer, Kathy Chun, Martin J Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramsawami, Gino R Somers, Lianna Kyriakopoulou, Johann K Hitzler, Mary Shago, Daniel A Morgenstern, Uri Tabori, Stephen Meyn, Meredith S Irwin, David Malkin, Adam Shlien
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature cancer 4 (2) (2022)
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D Anderson, Arun K Ramani, Kyoko E Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D Wasserman, Rosemarie E Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A Whitlock, Stephen W Scherer, Kathy Chun, Martin J Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramsawami, Gino R Somers, Lianna Kyriakopoulou, Johann K Hitzler, Mary Shago, Daniel A Morgenstern, Uri Tabori, Stephen Meyn, Meredith S Irwin, David Malkin, Adam Shlien
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature cancer 4 (2) (2022)
Danielle A Baribeau, Ny Hoang, Thanuja Selvanayagam, D James Stavropoulos, Gregory Costain, Stephen W Scherer, Jacob A S Vorstman
Developmental implications of genetic testing for physical indications. European journal of human genetics : EJHG 30 (11) (2022)
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D Anderson, Arun K Ramani, Kyoko E Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D Wasserman, Rosemarie E Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A Whitlock, Stephen W Scherer, Kathy Chun, Martin J Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramsawami, Gino R Somers, Lianna Kyriakopoulou, Johann K Hitzler, Mary Shago, Daniel A Morgenstern, Uri Tabori, Stephen Meyn, Meredith S Irwin, David Malkin, Adam Shlien
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature cancer 4 (2) (2022)
Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H D Kim, Elbay Aliyev, Khalid A Fakhro, Stephen W Scherer, Chaim M Roifman
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. NPJ genomic medicine 6 (1) (2021)
Ny Hoang, Ryan K C Yuen, Jennifer Howe, Irene Drmic, Patricia Ambrozewicz, Carolyn Russell, Jacob Vorstman, Shelly K Weiss, Evdokia Anagnostou, Beth A Malow, Stephen W Scherer
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene. American journal of medical genetics. Part A 185 (4) (2021)
Catherine A Brownstein, Richard S Smith, Lance H Rodan, Mark P Gorman, Margaret A Hojlo, Emily A Garvey, Jianqiao Li, Kristin Cabral, Joshua J Bowen, Abhijit S Rao, Casie A Genetti, Devon Carroll, Emma A Deaso, Pankaj B Agrawal, Jill Anne Rosenfeld, Weimin Bi, Jennifer Howe, Dimitri J Stavropoulos, Adam W Hansen, Hesham M Hamoda, Ferne Pinard, Annmarie Caracansi, Christopher A Walsh, Eugene J D'Angelo, Alan H Beggs, Mehdi Zarrei, Richard A Gibbs, Stephen W Scherer, David C Glahn, Joseph Gonzalez-Heydrich
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Molecular psychiatry 26 (5) (2021)
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md Atikur Rahaman, K M Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D O'Rielly, Bakhrom K Berdeiv, A H M Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W Scherer, Mohammed Uddin
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. NPJ genomic medicine 6 (1) (2021)
Susan Walker, Sylvia Lamoureux, Tayyaba Khan, Alyssa C M Joynt, Melissa Bradley, Helen M Branson, Melissa T Carter, Robin Z Hayeems, Lukasz Jagiello, Christian R Marshall, M Stephen Meyn, Steven P Miller, Diane Wilson, Stephen W Scherer, Susan Blaser, Kamiar Mireskandari, Gregory Costain
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. American journal of medical genetics. Part A 185 (10) (2021)
Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y S Lau, Christian R Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob A S Vorstman, Stelios Georgiades, Suzanne M E Lewis, Peter Szatmari, Clarrisa A Lisa Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W Scherer
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ genomic medicine 6 (1) (2021)
Kealan Pugsley, Stephen W Scherer, Mark A Bellgrove, Ziarih Hawi
Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands. Molecular psychiatry (2021)
Marc R Woodbury-Smith, Mehdi Zarrei, John Wei, Bhooma Thiruvahindrapuram, Irene O'Connor, Andrew D Paterson, Ryan K C Yuen, Jila Dastan, Dimitri J Stavropoulos, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Evdokia Anagnostou, Stephen W Scherer, Veronica J Vieland, Peter Szatmari
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 183 (5) (2020)
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A Mojarad, Yue Yin, Alona Dov, Induja Chandrakumar, Tanya Prasolava, Natalie Shum, Omar Hamdan, Giovanna Pellecchia, Jennifer L Howe, Joseph Whitney, Eric W Klee, Saurabh Baheti, David G Amaral, Evdokia Anagnostou, Mayada Elsabbagh, Bridget A Fernandez, Ny Hoang, M E Suzanne Lewis, Xudong Liu, Calvin P Sjaarda, Isabel M Smith, Peter Szatmari, Lonnie Zwaigenbaum, David Glazer, Dean Hartley, A Keith Stewart, Michael A Eberle, Nozomu Sato, Christopher E Pearson, Stephen W Scherer, Ryan K C Yuen
Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature 586 (7827) (2020)
Robert William Davies, Ania M Fiksinski, Elemi J Breetvelt, Nigel M Williams, Stephen R Hooper, Thomas Monfeuga, Anne Susan Bassett, Michael J Owen, Raquel E Gur, Bernice E Morrow, Donna M McDonald-McGinn, Ann Swillen, Eva W C Chow, Marianne van den Bree, Beverly S Emanuel, Joris R Vermeesch, Therese van Amelsvoort, Celso Arango, Marco Armando, Linda E Campbell, Joseph F Cubells, Stephan Eliez, Sixto Garcia-Minaur, Doron Gothelf, Wendy R Kates, Kieran C Murphy, Clodagh M Murphy, Declan G M Murphy, Nicole Philip, Gabriela M Repetto, Vandana Shashi, Tony J Simon, Damiàn Heine Suñer, Stefano Vicari, Stephen W Scherer, null null, Carrie E Bearden, Jacob A S Vorstman
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. Nature medicine 26 (12) (2020)
Christian Patrick Schaaf, Catalina Betancur, Ryan K C Yuen, Jeremy R Parr, David H Skuse, Louise Gallagher, Raphael A Bernier, Janet A Buchanan, Joseph D Buxbaum, Chun-An Chen, Kira A Dies, Mayada Elsabbagh, Helen V Firth, Thomas Frazier, Ny Hoang, Jennifer Howe, Christian R Marshall, Jacques L Michaud, Olivia Rennie, Peter Szatmari, Wendy K Chung, Patrick F Bolton, Edwin H Cook, Stephen W Scherer, Jacob A S Vorstman
A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature reviews. Genetics 21 (6) (2020)
Marc R Woodbury-Smith, A D Paterson, P Szatmari, Stephen W Scherer
Genome-wide association study of emotional empathy in children. Scientific reports 10 (1) (2020)
Yi Liu, Yanqing Zhang, Mehdi Zarrei, Rui Dong, Xiaomeng Yang, Dongmei Zhao, Stephen W Scherer, Zhongtao Gai
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 183 (4) (2020)
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W Scherer, Mustafa Sahin, David T Miller, null null
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A Baribeau, Anne S Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R Marshall, Aparna Prasad, Moises A Serrano, D James Stavropoulos, Hope Twede, Joris R Vermeesch, Jacob A S Vorstman, Stephen W Scherer
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. Journal of neurodevelopmental disorders 11 (1) (2019)
Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil, Vickie Kwan, Susan Walker, Peter Pasceri, Frederick P Roth, Ryan Kc Yuen, Karun K Singh, James Ellis, Stephen W Scherer
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. eLife 8 (2019)
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edwin J Young, Edward J Higginbotham, Jeffrey R MacDonald, Brett Trost, Ada J S Chan, Susan Walker, Sylvia Lamoureux, Tracy Heung, Bahareh A Mojarad, Barbara Kellam, Tara Paton, Muhammad Faheem, Karin Miron, Chao Lu, Ting Wang, Kozue Samler, Xiaolin Wang, Gregory Costain, Ny Hoang, Giovanna Pellecchia, John Wei, Rohan V Patel, Bhooma Thiruvahindrapuram, Maian Roifman, Daniele Merico, Tara Goodale, Irene Drmic, Marsha Speevak, Jennifer L Howe, Ryan K C Yuen, Janet A Buchanan, Jacob A S Vorstman, Christian R Marshall, Richard F Wintle, David R Rosenberg, Gregory L Hanna, Marc Woodbury-Smith, Cheryl Cytrynbaum, Lonnie Zwaigenbaum, Mayada Elsabbagh, Janine Flanagan, Bridget A Fernandez, Melissa T Carter, Peter Szatmari, Wendy Roberts, Jason Lerch, Xudong Liu, Robert Nicolson, Stelios Georgiades, Rosanna Weksberg, Paul D Arnold, Anne S Bassett, Jennifer Crosbie, Russell Schachar, Dimitri J Stavropoulos, Evdokia Anagnostou, Stephen W Scherer
A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ genomic medicine 4 (2019)
Mary Hoffman, Aaron H Gillmor, Daniel J Kunz, Michael J Johnston, Ana Nikolic, Kiran Narta, Mehdi Zarrei, Jennifer King, Katrina Ellestad, Ngoc Ha Dang, Florence M G Cavalli, Michelle M Kushida, Fiona J Coutinho, Yuankun Zhu, Betty Luu, Yussanne Ma, Andrew J Mungall, Richard Moore, Marco A Marra, Michael D Taylor, Trevor J Pugh, Peter B Dirks, Douglas Strother, Lucie Lafay-Cousin, Adam C Resnick, Stephen W Scherer, Donna L Senger, Benjamin David Simons, Jennifer A Chan, A Sorana Morrissy, Marco Gallo
Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma. Cancer research 79 (9) (2019)
Nathaniel D Anderson, Richard J de Borja, Matthew D Young, Fabio Fuligni, Andrej Rosic, Nicola D Roberts, Simon Hajjar, Mehdi Layeghifard, Ana Novokmet, Paul E Kowalski, Matthew Anaka, Scott Davidson, Mehdi Zarrei, Badr Id Said, L Christine Schreiner, Remi Marchand, Joseph Sitter, Nalan Gokgoz, Ledia Brunga, Garrett T Graham, Anthony Fullam, Nischalan Pillay, Jeffrey A Toretsky, Akihiko Yoshida, Tatsuhiro Shibata, Markus Metzler, Gino R Somers, Stephen W Scherer, Adrienne M Flanagan, Peter J Campbell, Joshua D Schiffman, Mary Shago, Ludmil B Alexandrov, Jay S Wunder, Irene L Andrulis, David Malkin, Sam Behjati, Adam Shlien
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. Science (New York, N.Y.) 361 (6405) (2018)
William M Brandler, Danny Antaki, Madhusudan Gujral, Morgan L Kleiber, Joe Whitney, Michelle S Maile, Oanh Hong, Timothy R Chapman, Shirley Tan, Prateek Tandon, Timothy Pang, Shih C Tang, Keith K Vaux, Yan Yang, Eoghan Harrington, Sissel Juul, Daniel J Turner, Bhooma Thiruvahindrapuram, Gaganjot Kaur, Zhuozhi Wang, Stephen F Kingsmore, Joseph G Gleeson, Denis Bisson, Boyko Kakaradov, Amalio Telenti, J Craig Venter, Roser Corominas, Claudio Toma, Bru Cormand, Isabel Rueda, Silvina Guijarro, Karen S Messer, Caroline M Nievergelt, María Jesús Arranz, Eric Courchesne, Karen Pierce, Alysson Renato Muotri, Lilia M Iakoucheva, Amaia Hervas, Stephen W Scherer, Christina Corsello, Jonathan Sebat
Paternally inherited cis-regulatory structural variants are associated with autism. Science (New York, N.Y.) 360 (6386) (2018)
Resham Ejaz, Anath C Lionel, Susan Blaser, Susan Walker, Stephen W Scherer, Riyana Babul-Hirji, Christian R Marshall, Dimitri J Stavropoulos, David Chitayat
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American journal of medical genetics. Part A 173 (10) (2017)
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L Sirkin, Stephen W Scherer, Félix-Antoine Bérubé-Simard, Nicolas Pilon
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. American journal of medical genetics. Part A 173 (11) (2017)
Yanqing Zhang, Yi Liu, Mehdi Zarrei, Winnie Tong, Rui Dong, Ying Wang, Haiyan Zhang, Xiaomeng Yang, Jeffrey R MacDonald, Mohammed Uddin, Stephen W Scherer, Zhongtao Gai
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 177 (1) (2017)
Mehdi Zarrei, Daniele Merico, Barbara Kellam, Worrawat Engchuan, Tara Scriver, Rikash Jokhan, Michael D Wilson, Jeremy Parr, Edmond G Lemire, Dimitri J Stavropoulos, Stephen W Scherer
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. American journal of medical genetics. Part A 173 (5) (2017)
Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S Tailor, Joseph Zhou, Roberto Mendoza-Londono, Ajoy Vincent, Peter R Durie, Stephen W Scherer, Johanna M Rommens, Elise Heon, Yigal Dror
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood 129 (11) (2017)

Stephen W Scherer.css-eqlu8i{font-size:small;padding-left:4px;} (Stephen Scherer, S W Scherer)

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Stephen W Scherer (Stephen Scherer, S W Scherer)