Search Results - Dan Spiegelman

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  1. 1
    Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

    Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes by Calwing Liao, Alexandre D. Laporte, Dan Spiegelman, Fulya Akçimen, Ridha Joober, Patrick A. Dion, Guy A. Rouleau

    Published 2019
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  2. 2
    Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

    Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder by Cristiana Cruceanu, Amirthagowri Ambalavanan, Dan Spiegelman, Julie Gauthier, Ronald G. Lafrenière, Patrick A. Dion, Martin Alda, Gustavo Turecki, Guy A. Rouleau

    Published 2013
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  3. 3
    De novo variants in sporadic cases of childhood onset schizophrenia

    De novo variants in sporadic cases of childhood onset schizophrenia by Amirthagowri Ambalavanan, Simon Girard, Kwangmi Ahn, Sirui Zhou, Alexandre Dionne‐Laporte, Dan Spiegelman, Cynthia V. Bourassa, Julie Gauthier, Fadi F. Hamdan, Lan Xiong, Patrick A. Dion, Ridha Joober, Judith L. Rapoport, Guy A. Rouleau

    Published 2015
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  4. 4
    Loss-of-function de novo mutations play an important role in severe human neural tube defects

    Loss-of-function de novo mutations play an important role in severe human neural tube defects by Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar

    Published 2015
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  5. 5
    Targeted sequencing of Parkinson’s disease loci genes highlights <i>SYT11, FGF20</i> and other associations

    Targeted sequencing of Parkinson’s disease loci genes highlights <i>SYT11, FGF20</i> and other associations by Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Yves Dauvilliers, Dan Spiegelman, Lior Greenbaum, Stanley Fahn, Cheryl Waters, Nicolas Dupré, Guy A. Rouleau, Sharon Hassin‐Baer, Edward A. Fon, Roy N. Alcalay, Ziv Gan‐Or

    Published 2020
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  6. 6
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability by Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Édouard Henrion, Alexandre Dionne‐Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud

    Published 2014
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  7. 7
    Global characterization of copy number variants in epilepsy patients from whole genome sequencing

    Global characterization of copy number variants in epilepsy patients from whole genome sequencing by Jean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle M. Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy A. Rouleau, Berge A. Minassian, Guillaume Bourque, Patrick Cossette

    Published 2018
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  8. 8
    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population by Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V. Bourassa, Pascale Hince, Alexandre Dionne‐Laporte, Dan Spiegelman, Ziv Gan‐Or, Cathy Mirarchi, Vesséla Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji H. Harada, Akio Koizumi, Lan Xiong, Patrick A. Dion, Guy A. Rouleau

    Published 2016
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  9. 9
    Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease

    Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease by Jennifer A. Ruskey, Lior Greenbaum, Léanne Roncière, Armaghan Alam, Dan Spiegelman, Christopher Liong, Oren Levy, Cheryl Waters, Stanley Fahn, Karen Marder, Wendy K. Chung, Gilad Yahalom, Simon Israeli‐Korn, Vered Livneh, Tsvia Fay‐Karmon, Roy N. Alcalay, Sharon Hassin‐Baer, Ziv Gan‐Or

    Published 2018
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  10. 10
    Fine mapping of the HLA locus in Parkinson’s disease in Europeans

    Fine mapping of the HLA locus in Parkinson’s disease in Europeans by Eric Yu, Aditya Ambati, Maren Stolp Andersen, Lynne Krohn, Mehrdad A. Estiar, Prabhjyot Saini, Konstantin Senkevich, Yuri L. Sosero, Ashwin Ashok Kumar Sreelatha, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Mathias Toft, Marte K. Viken, Manu Sharma, Cornelis Blauwendraat, Lasse Pihlstrøm, Emmanuel Mignot, Ziv Gan‐Or

    Published 2021
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  11. 11
    A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

    A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing by Rachel A. Myers, Ferrán Casals, Julie Gauthier, Fadi F. Hamdan, Jon Keebler, Adam R. Boyko, Carlos D. Bustamante, Amélie Piton, Dan Spiegelman, Édouard Henrion, Martine Zilversmit, Julie Hussin, Jacklyn Quinlan, Yanlian Yang, Ronald G. Lafrenière, Alexander R. Griffing, Eric A. Stone, Guy A. Rouleau, Philip Awadalla

    Published 2011
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  12. 12
    Analysis of Heterozygous <scp><i>PRKN</i></scp> Variants and Copy‐Number Variations in Parkinson's Disease

    Analysis of Heterozygous <scp><i>PRKN</i></scp> Variants and Copy‐Number Variations in Parkinson's Disease by Eric Yu, Uladzislau Rudakou, Lynne Krohn, Kheireddin Mufti, Jennifer A. Ruskey, Farnaz Asayesh, Mehrdad A. Estiar, Dan Spiegelman, Matthew Surface, Stanley Fahn, Cheryl Waters, Lior Greenbaum, Alberto J. Espay, Yves Dauvilliers, Nicolas Dupré, Guy A. Rouleau, Sharon Hassin‐Baer, Edward A. Fon, Roy N. Alcalay, Ziv Gan‐Or

    Published 2020
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  13. 13
    Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

    Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia by Julie Gauthier, Tabrez J. Siddiqui, Huashan Peng, Daisaku Yokomaku, Fadi F. Hamdan, Nathalie Champagne, Mathieu Lapointe, Dan Spiegelman, Anne Noreau, Ronald G. Lafrenière, Ferid Fathalli, Ridha Joober, Marie‐Odile Krebs, Lynn E. DeLisi, Laurent Mottron, Éric Fombonne, Jacques L. Michaud, Pierre Drapeau, Salvatore Carbonetto, Ann Marie Craig, Guy A. Rouleau

    Published 2011
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  14. 14
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor by Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau

    Published 2012
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  15. 15
    Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

    Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia by Julien Tarabeux, Oussama Kébir, J Gauthier, Fadi F. Hamdan, Lan Xiong, Amélie Piton, Dan Spiegelman, Édouard Henrion, Bruno Millet, Ferid Fathalli, Ridha Joober, Judith L. Rapoport, Lynn E. DeLisi, Éric Fombonne, Laurent Mottron, Nadine Forget‐Dubois, Michel Boivin, Jacques L. Michaud, Pierre Drapeau, Ronald G. Lafrenière, Guy A. Rouleau, Marie‐Odile Krebs

    Published 2011
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  16. 16
    Evolution of a Human-Specific Tandem Repeat Associated with ALS

    Evolution of a Human-Specific Tandem Repeat Associated with ALS by Meredith M. Course, Kathryn Gudsnuk, Samuel N. Smukowski, Kosuke Winston, Nitin Desai, Jay P. Ross, Arvis Sulovari, Cynthia V. Bourassa, Dan Spiegelman, Julien Couthouis, Chang‐En Yu, Debby W. Tsuang, Suman Jayadev, Mark A. Kay, Aaron D. Gitler, Nicolas Dupré, Evan E. Eichler, Patrick A. Dion, Guy A. Rouleau, Paul N. Valdmanis

    Published 2020
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  17. 17
    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy

    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy by Kristopher T. Kahle, Nancy D. Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela Lachance‐Touchette, Cynthia V. Bourassa, Annie Levert, Patrick A. Dion, Brian P. Walcott, Dan Spiegelman, Alexandre Dionne‐Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Z. Deeb, Stephen J. Moss, Igor Medina, Guy A. Rouleau

    Published 2014
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  18. 18
    Mutations in<i>SYNGAP1</i>in Autosomal Nonsyndromic Mental Retardation

    Mutations in<i>SYNGAP1</i>in Autosomal Nonsyndromic Mental Retardation by Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yanlian Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D’Anjou, Éric Fombonne, Anjené Addington, Judith L. Rapoport, Lynn E. DeLisi, Marie‐Odile Krebs, Fayçal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

    Published 2009
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  19. 19
    Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

    Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia by Ziv Gan‐Or, Naïma Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B. Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B. Laurent, Daniel Rochefort, Dan Spiegelman, Alexandre Dionne‐Laporte, Anna Szuto, Meijiang Liao, Denise A. Figlewicz, Ahmed Bouhouche, Ali Benomar, Mohamed Yahyaoui, Réda Ouazzani, Grace Yoon, Nicolas Dupré, Oksana Suchowersky, François V. Bolduc, J. Alex Parker, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau, Bouchra Ouled Amar Bencheikh

    Published 2016
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  20. 20
    Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

    Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability by Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, Da‐Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, Areum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton, Hideyuki Tomitori, Hussein Daoud, Christine Massicotte, Édouard Henrion, Ousmane Diallo, Masoud Shekarabi, Claude Marineau, Michael Shevell, Bruno Maranda, Grant A. Mitchell, Amélie Nadeau, Guy D’Anjou, Michel Vanasse, Myriam Srour, Ronald G. Lafrenière, Pierre Drapeau, Jean Claude Lacaille, Eunjoon Kim, Jae-Ran Lee, Kazuei Igarashi, Richard L. Huganir, Guy A. Rouleau, Jacques L. Michaud

    Published 2011
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