Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes von Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim

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MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts von Zeng, Huan-Chang, Bae, Yangjin, Dawson, Brian C., Chen, Yuqing, Bertin, Terry, Munivez, Elda, Campeau, Philippe M., Tao, Jianning, Chen, Rui, Lee, Brendan H.

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Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders von Bellai‐Dussault, Kara, Nguyen, Thi Tuyet Mai, Baratang, Nissan V., Jimenez‐Cruz, Daniel A., Campeau, Philippe M.

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta von Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome von Kortüm, Fanny, Caputo, Viviana, Bauer, Christiane K, Stella, Lorenzo, Ciolfi, Andrea, Alawi, Malik, Bocchinfuso, Gianfranco, Flex, Elisabetta, Paolacci, Stefano, Dentici, Maria Lisa, Grammatico, Paola, Korenke, Georg Christoph, Leuzzi, Vincenzo, Mowat, David, Nair, Lal D V, Nguyen, Thi Tuyet Mai, Thierry, Patrick, White, Susan M, Dallapiccola, Bruno, Pizzuti, Antonio, Campeau, Philippe M, Tartaglia, Marco, Kutsche, Kerstin

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Recessive mutations in >VPS13D cause childhood onset movement disorders von Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.

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Hereditary breast cancer: new genetic developments, new therapeutic avenues von Campeau, Philippe M., Foulkes, William D., Tischkowitz, Marc D.

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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms von Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian

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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1 von Ajeawung, Norbert F., Nguyen, Thi Tuyet Mai, Lu, Linchao, Kucharski, Thomas J., Rousseau, Justine, Molidperee, Sirinart, Atienza, Joshua, Gamache, Isabel, Jin, Weidong, Plon, Sharon E., Lee, Brendan H., Teodoro, Jose G., Wang, Lisa L., Campeau, Philippe M.

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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies von Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons von Finelli, Mattéa J, Aprile, Davide, Castroflorio, Enrico, Jeans, Alexander, Moschetta, Matteo, Chessum, Lauren, Degiacomi, Matteo T, Grasegger, Julia, Lupien-Meilleur, Alexis, Bassett, Andrew, Rossignol, Elsa, Campeau, Philippe M, Bowl, Michael R, Benfenati, Fabio, Fassio, Anna, Oliver, Peter L

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy von Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.

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Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase von Campeau, Philippe M., Lenk, Guy M., Lu, James T., Bae, Yangjin, Burrage, Lindsay, Turnpenny, Peter, Román Corona-Rivera, Jorge, Morandi, Lucia, Mora, Marina, Reutter, Heiko, Vulto-van Silfhout, Anneke T., Faivre, Laurence, Haan, Eric, Gibbs, Richard A., Meisler, Miriam H., Lee, Brendan H.

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Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns von Olthof, Anouk M, White, Alisa K, Mieruszynski, Stephen, Doggett, Karen, Lee, Madisen F, Chakroun, Almahdi, Abdel Aleem, Alice K, Rousseau, Justine, Magnani, Cinzia, Roifman, Chaim M, Campeau, Philippe M, Heath, Joan K, Kanadia, Rahul N

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Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study von Moisan, Lina, Iannuzzi, David, Maranda, Bruno, Campeau, Philippe M, Mitchell, John J

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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome von Bélanger, Catherine, Bérubé-Simard, Félix-Antoine, Leduc, Elizabeth, Bernas, Guillaume, Campeau, Philippe M., Lalani, Seema R., Martin, Donna M., Bielas, Stephanie, Moccia, Amanda, Srivastava, Anshika, Silversides, David W., Pilon, Nicolas

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Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy von Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry

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Free GPI is the elusive Emm antigen von Campeau, Philippe M.

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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement von Howie, Alison H, Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J, Angel, Kim, Gentle, Jenifer, Smith, Maureen, Offringa, Martin, Butcher, Nancy J, Campeau, Philippe M, Chakraborty, Pranesh, Chan, Alicia, Fergusson, Dean, Mamak, Eva, McClelland, Peyton, Mercimek-Andrews, Saadet, Mhanni, Aizeddin, Moazin, Zeinab, Rockman-Greenberg, Cheryl, Rupar, C Anthony, Skidmore, Becky, Stockler, Sylvia, Thavorn, Kednapa, Wyatt, Alexandra, Potter, Beth K

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An all-encompassing variant classification system proposed von Campeau, Philippe M

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