부산대학교 도서관

Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson

Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Maxime Cadieux‐Dion; Emily Farrow; Isabelle Thiffault; Ana S. A. Cohen; Holly Welsh; Lauren Bartik; Caitlin Schwager; Kendra Engleman; Dihong Zhou; Lei Zhang; Elena Repnikova; Shivarajan M. Amudhavalli; Carol J. Saunders

Clinical Genetics. 102:136-141

Zeineb Bakey; Oscar A Cabrera; Julia Hoefele; Dinu Antony; Kaman Wu; Michael W Stuck; Dimitra Micha; Thibaut Eguether; Abigail O Smith; Nicole N van der Wel; Matias Wagner; Lara Strittmatter; Philip L Beales; Julie A Jonassen; Isabelle Thiffault; Maxime Cadieux-Dion; Laura Boyes; Saba Sharif; Beyhan Tüysüz; Desiree Dunstheimer; Hans W M Niessen; William Devine; Cecilia W Lo; Hannah M Mitchison; Miriam Schmidts; Gregory J Pazour

PLoS Genetics, Vol 19, Iss 6, p e1010796 (2023)

Fischer-Zirnsak, Björn; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M; Fleming, Emily; Foss, Kimberly; Ha, Thoa; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-Hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F; Mirzaa, Ghayda; Ehmke, Nadja

The American Journal of Human Genetics. 105:631-639

Diets, I.J.; van der Donk, R.; Baltrunaite, K.; Waanders, E.; Reijnders, M.R.F.; Dingemans, A.J.; Pfundt, R.P.; Vulto-van Silfhout, A.T.; van de Wiel, L.J.M.; Gilissen, C.F.; Thevenon, J.; Perrin, L.; Afenjar, A.; Nava, C.; Keren, B.; Bartz, S.; Peri, B.; Beunders, G.; Verbeek, N.; van Gassen, K.; Thiffault, I.; Cadieux-Dion, M.; Huerta-Saenz, L.; Wagner, M.; Konstantopoulou, V.; Vodopiutz, J.; Griese, M.; Boel, A.; Callewaert, B.; Brunner, H.G.; Kleefstra, T.; Hoogerbrugge, N.; de Vries, B.B.; Hwa, V.; Dauber, A.; Hehir-Kwa, J.Y.; Kuiper, R.P; Jongmans, M.C.J.

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American Journal of Human Genetics, 104, 4, pp. 758-766
Am. J. Hum. Genet. 104, 758-766 (2019)

Cadieux-Dion, M; Meneghini, S; Villa, C; Toffa, DH; Wickstrom, R; Bouthillier, A; Sandvik, U; Gustavsson, B; Mohamed, I; Cossette, P

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES. 47(6):800-809

Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson

medRxiv
Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Nature Communications 15(1), 7239 (2024). doi:10.1038/s41467-024-51310-z
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(7239) Nature Publishing Group 10.1038/s41467-024-51310-z
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(1), p. 7239. Nature Publishing Group 10.1038/s41467-024-51310-z

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA.; Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 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Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

C. Paradis; M. Cadieux-Dion; C. Meloche; M. Gravel; J. Paradis; A. Des Roches; G. Leclerc; P. Cossette; P. Begin

Journal of Clinical Immunology. 39:118-125

Hamdan, Fadi F. ; Myers, Candace T. ; Cossette, Patrick ; Lemay, Philippe ; Spiegelman, Dan ; Laporte, Alexandre Dionne ; Nassif, Christina ; Diallo, Ousmane ; Monlong, Jean ; Cadieux-Dion, Maxime ; Dobrzeniecka, Sylvia ; Meloche, Caroline ; Retterer, Kyle ; Cho, Megan T. ; Rosenfeld, Jill A. ; Bi, Weimin ; Massicotte, Christine ; Miguet, Marguerite ; Brunga, Ledia ; Regan, Brigid M. ; Mo, Kelly ; Tam, Cory ; Schneider, Amy ; Hollingsworth, Georgie ; FitzPatrick, David R. ; Donaldson, Alan ; Canham, Natalie ; Blair, Edward ; Kerr, Bronwyn ; Fry, Andrew E. ; Thomas, Rhys H. ; Shelagh, Joss ; Hurst, Jane A. ; Brittain, Helen ; Blyth, Moira ; Lebel, Robert Roger ; Gerkes, Erica H. ; Davis-Keppen, Laura ; Stein, Quinn ; Chung, Wendy K. ; Dorison, Sara J. ; Benke, Paul J. ; Fassi, Emily ; Corsten-Janssen, Nicole ; Kamsteeg, Erik-Jan ; Mau-Them, Frederic T. ; Bruel, Ange-Line ; Verloes, Alain ; Õunap, Katrin ; Wojcik, Monica H. ; Albert, Dara V.F. ; Venkateswaran, Sunita ; Ware, Tyson ; Jones, Dean ; Liu, Yu-Chi ; Mohammad, Shekeeb S. ; Bizargity, Peyman ; Bacino, Carlos A. ; Leuzzi, Vincenzo ; Martinelli, Simone ; Dallapiccola, Bruno ; Tartaglia, Marco ; Blumkin, Lubov ; Wierenga, Klaas J. ; Purcarin, Gabriela ; O’Byrne, James J. ; Stockler, Sylvia ; Lehman, Anna ; Keren, Boris ; Nougues, Marie-Christine ; Mignot, Cyril ; Auvin, Stéphane ; Nava, Caroline ; Hiatt, Susan M. ; Bebin, Martina ; Shao, Yunru ; Scaglia, Fernando ; Lalani, Seema R. ; Frye, Richard E. ; Jarjour, Imad T. ; Jacques, Stéphanie ; Boucher, Renee-Myriam ; Riou, Emilie ; Srour, Myriam ; Carmant, Lionel ; Lortie, Anne ; Major, Philippe ; Diadori, Paola ; Dubeau, François ; D’Anjou, Guy ; Bourque, Guillaume ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Campeau, Philippe M. ; Kibar, Zoha ; Lafrenière, Ronald G. ; Girard, Simon L. ; Mercimek-Mahmutoglu, Saadet ; Boelman, Cyrus ; Rouleau, Guy A. ; Scheffer, Ingrid E. ; Mefford, Heather C. ; Andrade, Danielle M. ; Rossignol, Elsa ; Minassian, Berge A. ; Michaud, Jacques L.

In The American Journal of Human Genetics 2 November 2017 101(5):664-685

Guissart, Claire ; Latypova, Xenia ; Rollier, Paul ; Khan, Tahir N. ; Stamberger, Hannah ; McWalter, Kirsty ; Cho, Megan T. ; Kjaergaard, Susanne ; Weckhuysen, Sarah ; Lesca, Gaetan ; Besnard, Thomas ; Õunap, Katrin ; Schema, Lynn ; Chiocchetti, Andreas G. ; McDonald, Marie ; de Bellescize, Julitta ; Vincent, Marie ; Van Esch, Hilde ; Sattler, Shannon ; Forghani, Irman ; Thiffault, Isabelle ; Freitag, Christine M. ; Barbouth, Deborah Sara ; Cadieux-Dion, Maxime ; Willaert, Rebecca ; Guillen Sacoto, Maria J. ; Safina, Nicole P. ; Dubourg, Christèle ; Grote, Lauren ; Carré, Wilfrid ; Saunders, Carol ; Pajusalu, Sander ; Farrow, Emily ; Boland, Anne ; Karlowicz, Danielle Hays ; Deleuze, Jean-François ; Wojcik, Monica H. ; Pressman, Rena ; Isidor, Bertrand ; Vogels, Annick ; Van Paesschen, Wim ; Al-Gazali, Lihadh ; Al Shamsi, Aisha Mohamed ; Claustres, Mireille ; Pujol, Aurora ; Sanders, Stephan J. ; Rivier, François ; Leboucq, Nicolas ; Cogné, Benjamin ; Sasorith, Souphatta ; Sanlaville, Damien ; Retterer, Kyle ; Odent, Sylvie ; Katsanis, Nicholas ; Bézieau, Stéphane ; Koenig, Michel ; Davis, Erica E. ; Pasquier, Laurent ; Küry, Sébastien

In The American Journal of Human Genetics 3 May 2018 102(5):744-759

Samuel F. Berkovic; John F. Staropoli; Stirling Carpenter; Karen L. Oliver; Stanislav Kmoch; Glenn W. Anderson; John A. Damiano; Michael S. Hildebrand; Katherine B. Sims; Susan L. Cotman; Melanie Bahlo; Katherine R. Smith; Maxime Cadieux-Dion; Patrick Cossette; Ivana Jedličková; Anna Přistoupilová; Sara E. Mole; Umberto Aguglia; Danielle M Andrade; Francesca Bisulli; Sylvia Boesch; Laura Canafoglia; Hans-Henrik M Dahl; Rainer Ehling; Silvana Franceschetti; Antonio Gambardella; Michael F Gonzales; Renate Kalnins; Anthony Lang; Eliza Lewandowska; Laura Licchetta; Tiago A Mestre; Michela Morbin; Chantal F Morel; Klary E Niezen-Koning; Filippo M Santorelli; Alessandro Simonati; Paolo Tinuper

Neurology. 87:579-584

Kezhi Yan; Justine Rousseau; Keren Machol; Laura A. Cross; Katherine E. Agre; Cynthia Forster Gibson; Anne Goverde; Kendra L. Engleman; Hannah Verdin; Elfride De Baere; Lorraine Potocki; Dihong Zhou; Maxime Cadieux-Dion; Gary A. Bellus; Monisa D. Wagner; Rebecca J. Hale; Natacha Esber; Alan F. Riley; Benjamin D. Solomon; Megan T. Cho; Kirsty McWalter; Roy Eyal; Meagan K. Hainlen; Bryce A. Mendelsohn; Hillary M. Porter; Brendan C. Lanpher; Andrea M. Lewis; Juliann Savatt; Isabelle Thiffault; Bert Callewaert; Philippe M. Campeau; Xiang-Jiao Yang

Sci Adv
SCIENCE ADVANCES

Zeineb Bakey; Oscar A. Cabrera; Julia Hoefele; Dinu Antony; Kaman Wu; Michael W. Stuck; Dimitra Micha; Thibaut Eguether; Abigail O. Smith; Nicole N. van der Wel; Matias Wagner; Lara Strittmatter; Philip L. Beales; Julie A. Jonassen; Isabelle Thiffault; Maxime Cadieux-Dion; Laura Boyes; Saba Sharif; Beyhan Tüysüz; Desiree Dunstheimer; Hans W.M. Niessen; William Devine; Cecilia W Lo; Hannah M. Mitchison; Miriam Schmidts; Gregory J. Pazour

PLoS Genet
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Jean Monlong; Simon L Girard; Caroline Meloche; Maxime Cadieux-Dion; Danielle M Andrade; Ron G Lafreniere; Micheline Gravel; Dan Spiegelman; Alexandre Dionne-Laporte; Cyrus Boelman; Fadi F Hamdan; Jacques L Michaud; Guy Rouleau; Berge A Minassian; Guillaume Bourque; Patrick Cossette

PLoS Genetics, Vol 14, Iss 4, p e1007285 (2018)

M, Cadieux-Dion; E, Andermann; P, Lachance-Touchette; O, Ansorge; C, Meloche; A, Barnabé; R I, Kuzniecky; F, Andermann; E, Faught; S, Leonberg; J A, Damiano; S F, Berkovic; G A, Rouleau; P, Cossette

Clinical Genetics. 83:571-575

Lansdon LA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Herriges JC; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Johnston J; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; Yoo B; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Miller N; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Bionano Genomics, Inc., 9540 Towne Centre Dr., Suite 100, San Diego, CA, USA.; Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Repnikova EA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; Farooqi MS; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Farrow EG; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Department of Pediatrics Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Baur, F.; Weiss, K.; Osman, K.; Saunders, C.; Cadieux-Dion, M.; So, J.; Biswas, S.; Altmüller, J.; Jungbluth, H.; Antebi, A.; Dafsari, H. S.

Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Gannon J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Newell B; Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Nopper AJ; Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Jenkins J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Heese B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri, USA.; Hughes S; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Engleman K; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Rush ET; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE