Jacques L. Michaud - Publications, H-index & Citations

Jacques L. Michaud

centre de recherche azrieli du chu sainte-justine

67H指数

238论文数

1.6W被引数

收录论文 107

发表时间

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder PCBP1基因中的全新变异导致神经发育障碍

Molecular Psychiatry

IF10.1

2026-09-16

PREAI

Wallid Deb; Thomas Besnard; Florence Desprez; Benjamin Cogné; Laura Do Souto Ferreira; Virginie Vignard; Sylviane Marouillat; Louis Januel; Svetlana Gorokhova; Tiffany Busa; Victor Morel; Benjamin Dauriat; Vincent Des Portes; Eyyüp Üçtepe; Özlem Akgün Doğan; Ahmet Yeşilyurt; Yasemin Alanay; Anne M. Slavotinek; Yu An; Hane Lee; Jessy Hary; Peter Kannu; Taryn B. Athey; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Patricia Dickson; Rachel Slaugh; Fadi F. Hamdan; Jean-François Soucy; Jacques L. Michaud; Alison M. Muir; Rebecca Buchert; Tobias B. Haack; Dominic Imort; Sérgio B. Sousa; Belinda Campos-Xavier; Pedro M. Almeida; Borut Peterlin; Sophie Kaspar; Christian Netzer; Hans Zempel; Meghan C. Towne; Roger L. Ladda; Susan L. Sell; Lina Quteineh; Romane Meurs; Stylianos E. Antonarakis; Pawel Gawlinski; Xiaofei Song; Wojciech Wiszniewski; Daniel G. Calame; Jennifer E. Posey; Frederic Ebstein; James R. Lupski; Bertrand Isidor; Stéphane Bézieau; Frédéric Laumonnier; Sébastien Küry

CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly CUL1 变体导致严重神经发育障碍：来自人类遗传学和微cephaly斑马鱼模型的研究见解

Human Genetics and Genomics Advances

IF3.6

2025-11-04

OAAI

Haoling Xu; Zhen Liu; Fadi F. Hamdan; Shengnan Wu; Mei He; Dan Wang; Hu Pan; Juanli Hu; Yiqiao Chen; Jacques L. Michaud; Berge A. Minnassian; Jing Duan; Jianxiang Liao; Jinping Su; Sainan Hu; Yin Peng; Qinyong Ye; Li Chen

The evolution of health data ecosystems: An international survey 健康数据生态系统的演变：一项国际调查

american journal of human genetics

IF0

2025-07-21

PREAI

Jordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott

Loss of tissue-type plasminogen activator causes multiple developmental anomalies 组织型纤溶酶原激活剂的丢失导致多种发育异常

BRAIN COMMUNICATIONS

IF4.5

2024-11-16

OAAI

Uguen, Kevin; Frey, Tanja; Muthaffar, Osama; Decarie, Jean-Claude; Ameziane, Najim; Boissel, Sarah; Baradaran-Heravi, Yalda; Rauch, Anita; Oprea, Gabriela; Rad, Aboulfazl; Steindl, Katharina; Michaud, Jacques L.

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-07-10

PREAI

Uguen, Kevin; Michaud, Jacques L.; Genin, Emmanuelle

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy 全面的全基因组序列分析提供了对脑瘫基因组结构的见解

NATURE GENETICS

IF31.8

2024-03-29

PREAI

Fehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Caron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L.

Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-27

OAAI

Goshu, E; Jin, H; Fasnacht, R; Sepenski, M; Michaud, JL; Fan, CM

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-07-05

OAAI

Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Taie, Lucas Fares; Almontashiri, Naif A.; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G.; Nassif, Christina; Attie-Bitach, Tania; Miguet, Marguerite; Delous, Marion; Ernest, Sylvain; Plaisancie, Julie; Calvas, Patrick; Rozet, Jean-Michel; Khan, Arif O.; Hamdan, Fadi F.; Jamieson, Robyn, V; Alkuraya, Fowzan S.; Michaud, Jacques L.; Chassaing, Nicolas

The role of common genetic variation in presumed monogenic epilepsies

EBIOMEDICINE

IF10.8

2022-07-01

OAAI

Campbell, Ciaran; Leu, Costin; Feng, Yen-Chen Anne; Wolking, Stefan; Moreau, Claudia; Ellis, Colin; Ganesan, Shiva; Martins, Helena; Oliver, Karen; Boothman, Isabelle; Benson, Katherine; Molloy, Anne; Brody, Lawrence; Michaud, Jacques L.; Hamdan, Fadi F.; Minassian, Berge A.; Lerche, Holger; Scheffer, Ingrid E.; Sisodiya, Sanjay; Girard, Simon; Cosette, Patrick; Delanty, Norman; Lal, Dennis; Cavalleri, Gianpiero L.

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2022-06-08

OAAI

Moreau, Claudia; Tremblay, Frederique; Wolking, Stefan; Girard, Alexandre; Laprise, Catherine; Hamdan, Fadi F.; Michaud, Jacques L.; Minassian, Berge A.; Cossette, Patrick; Girard, Simon L.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

HUMAN GENETICS

IF3.6

2021-12-14

OAAI

Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Loebel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M.; Lessel, Davor

Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency

BRAIN

IF11.7

2021-11-13

OAAI

Carreno-Munoz, Maria Isabel; Chattopadhyaya, Bidisha; Agbogba, Kristian; Cote, Valerie; Wang, Siyan; Levesque, Maxime; Avoli, Massimo; Michaud, Jacques L.; Lippe, Sarah; Di Cristo, Graziella

Ectopic expression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to defects in Sim1 haploinsufficiency 下丘脑室旁核Irx3和Irx5的异位表达导致Sim1单倍体功能不全的缺陷

SCIENCE ADVANCES

IF12.5

2021-10-29

OAAI

Son, Joe Eun; Dou, Zhengchao; Wanggou, Siyi; Chan, Jade; Mo, Rong; Li, Xuejun; Huang, Xi; Kim, Kyoung-Han; Michaud, Jacques L.; Hui, Chi-chung

Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome

CLINICAL NEUROPHYSIOLOGY

IF3.6

2021-08-01

PREAI

Cote, Valerie; Knoth, Inga S.; Agbogba, Kristian; Vannasing, Phetsamone; Cote, Lucie; Major, Philippe; Michaud, Jacques L.; Barlaam, Fanny; Lippe, Sarah

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability FBXO28导致发育性和癫痫性脑病，并伴有严重的智力障碍

EPILEPSIA

IF6.6

2020-12-06

OAAI

Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bonnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F.; Michaud, Jacques L.; Balak, Christopher; Mefford, Heather C.; Scheffer, Ingrid E.

Polygenic risk scores of several subtypes of epilepsies in a founder population

NEUROLOGY-GENETICS

IF3.7

2020-06-01

OAAI

Moreau, Claudia; Rebillard, Rose-Marie; Wolking, Stefan; Michaud, Jacques; Tremblay, Frederique; Girard, Alexandre; Bouchard, Joanie; Minassian, Berge; Laprise, Catherine; Cossette, Patrick; Girard, Simon L.

A framework for an evidence-based gene list relevant to autism spectrum disorder

NATURE REVIEWS GENETICS

IF52

2020-04-21

OAAI

Schaaf, Christian P.; Betancur, Catalina; Yuen, Ryan K. C.; Parr, Jeremy R.; Skuse, David H.; Gallagher, Louise; Bernier, Raphael A.; Buchanan, Janet A.; Buxbaum, Joseph D.; Chen, Chun-An; Dies, Kira A.; Elsabbagh, Mayada; Firth, Helen V.; Frazier, Thomas; Hoang, Ny; Howe, Jennifer; Marshall, Christian R.; Michaud, Jacques L.; Rennie, Olivia; Szatmari, Peter; Chung, Wendy K.; Bolton, Patrick F.; Cook, Edwin H.; Scherer, Stephen W.; Vorstman, Jacob A. S.

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-11-06

OAAI

Beauregard-Lacroix, Eliane; Salian, Smrithi; Kim, Hyunyun; Ehresmann, Sophie; D'Amours, Guylaine; Gauthier, Julie; Saillour, Virginie; Bernard, Genevieve; Mitchell, Grant A.; Soucy, Jean-Francois; Michaud, Jacques L.; Campeau, Philippe M.

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

HUMAN GENETICS

IF3.6

2019-11-04

OAAI

Szafranski, Przemyslaw; Liu, Qian; Karolak, Justyna A.; Song, Xiaofei; de Leeuw, Nicole; Faas, Brigitte; Gerychova, Romana; Janku, Petr; Jezova, Marta; Valaskova, Iveta; Gibbs, Kathleen A.; Surrey, Lea F.; Poisson, Virginie; Berube, Denis; Oligny, Luc L.; Michaud, Jacques L.; Popek, Edwina; Stankiewicz, Pawel

研究方向