Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Authors: Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

Source: American journal of human genetics. 109(2):361-372

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Authors: Cordovado, Amélie, Schaettin, Martina, Jeanne, Médéric, Panasenkava, Veranika, Denommé-Pichon, Anne-Sophie, Keren, Boris, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond J, Childers, Anna, Everman, David B, Isidor, Betrand, Audebert-Bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frédéric, Stoeckli, Esther T, Toutain, Annick, Vuillaume, Marie-Laure

Source: Human molecular genetics. 31(19):3325-3340

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165175311.0x000001&indx=1&recIds=ETOCvdc_100165175311.0x000001

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Authors: Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle

Source: In Genetics in Medicine February 2021 23(2):352-362

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Authors: Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric

Source: Human mutation. 42(7):848-861

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Dynamic Expression of Genes Encoding Ubiquitin Conjugating Enzymes (E2s) During Neuronal Differentiation and Maturation: Implications for Neurodevelopmental Disorders and Neurodegenerative Diseases.

Authors: Paubel, Agathe, Marouillat, Sylviane, Dangoumau, Audrey, Maurel, Cindy, Haouari, Shanez, Blasco, Hélène, Corcia, Philippe, Laumonnier, Frédéric, Andres, Christian R., Vourc'h, Patrick

Source: Genes; Nov2024, Vol. 15 Issue 11, p1381, 15p

Subject Terms: UBIQUITIN-conjugating enzymes, PHYSIOLOGY, TRANSCRIPTION factors, GENE expression, NEURONAL differentiation

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

Source: In The American Journal of Human Genetics 5 March 2020 106(3):356-370

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

Authors: Chami, Anna A., Beltran, Stéphane, Corcia, Philippe, Andres, Christian R., Laumonnier, Frédéric, Blasco, Hélène, Vourc'H, Patrick

Source: Amyotrophic lateral sclerosis and frontotemporal degeneration. 21(5-6):463-466

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110670793.0x000001&indx=1&recIds=ETOCvdc_100110670793.0x000001

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

Authors: Tastet, Julie, Cuberos, Hélène, Vallée, Béatrice, Toutain, Annick, Raynaud, Martine, Marouillat, Sylviane, Thépault, Rose-Anne, Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Vourc'h, Patrick, Andres, Christian R., Bénédetti, Hélène

Source: In Neuroscience 10 February 2019 399:199-210

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Authors: Quartier, Angélique, Courraud, Jérémie, Thi Ha, Thuong, McGillivray, George, Isidor, Bertrand, Rose, Katherine, Drouot, Nathalie, Savidan, Marie‐Armel, Feger, Claire, Jagline, Hélène, Chelly, Jamel, Shaw, Marie, Laumonnier, Frédéric, Gecz, Jozef, Mandel, Jean‐Louis, Piton, Amélie

Source: Human mutation. 40(11):2021-2032

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100099956234.0x000001&indx=1&recIds=ETOCvdc_100099956234.0x000001

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Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome

Authors: Vourc’h, Patrick, Wurmser, François, Brulard, Céline, Mouzat, Kevin, Kassem, Sandra, Dangoumau, Audrey, Laumonnier, Frédéric, Blasco, Hélène, Corcia, Philippe, Andres, Christian R.

Source: In Neurobiology of Aging January 2021 97:148-148

Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome

Authors: Vourc'h, Patrick, Wurmser, François, Brulard, Céline, Mouzat, Kevin, Kassem, Sandra, Dangoumau, Audrey, Laumonnier, Frédéric, Blasco, Hélène, Corcia, Philippe, Andres, Christian R.

Source: NEUROBIOLOGY OF AGING. 97:148.e1-148.e7

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116520651.0x000001&indx=1&recIds=ETOCvdc_100116520651.0x000001

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Authors: Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisenka E.L.M., de Brouwer, Arjan P.M., Marouillat, Sylviane, Wienker, Thomas F., Ropers, Hans Hilger, Kahrizi, Kimia, Nadif Kasri, Nael, Najmabadi, Hossein, Laumonnier, Frédéric, Kleefstra, Tjitske, van Bokhoven, Hans

Source: In The American Journal of Human Genetics 5 March 2015 96(3):386-396

1H–13C NMR-based urine metabolic profiling in autism spectrum disorders

Authors: Mavel, Sylvie, Nadal-Desbarats, Lydie, Blasco, Hélène, Bonnet-Brilhault, Frédérique, Barthélémy, Catherine, Montigny, Frédéric, Sarda, Pierre, Laumonnier, Frédéric, Vourc′h, Patrick, Andres, Christian R., Emond, Patrick

Source: In Talanta 30 September 2013 114:95-102

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Authors: Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

Source: In The American Journal of Human Genetics 2 May 2013 92(5):681-695

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype

Authors: Vuillaume, Marie‐Laure, Jeanne, Médéric, Xue, Li, Blesson, Sophie, Denommé‐Pichon, Anne‐Sophie, Alirol, Servane, Brulard, Céline, Colin, Estelle, Isidor, Bertrand, Gilbert‐Dussardier, Brigitte, Odent, Sylvie, Parent, Philippe, Donnart, Audrey, Redon, Richard, Bézieau, Stéphane, Rondard, Philippe, Laumonnier, Frédéric, Toutain, Annick

Source: Annals of neurology. 83(2):437-439

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081731271.0x000001&indx=1&recIds=ETOCvdc_100081731271.0x000001

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

Authors: Tastet, Julie, Decalonne, Loïc, Marouillat, Sylviane, Malvy, Joëlle, Thépault, Rose-Anne, Toutain, Annick, Paubel, Agathe, Tabagh, Refaat, Bénédetti, Hélène, Laumonnier, Frédéric, Barthélémy, Catherine, Bonnet-Brilhault, Frédérique, Andres, Christian R., Vourc'h, Patrick

Source: Psychiatric genetics. 25(6):263-267

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036974096.0x000001&indx=1&recIds=ETOCvdc_100036974096.0x000001

Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.

Authors: Desprez, Florence, Ung, Dévina C., Vourc'h, Patrick, Jeanne, Médéric, Laumonnier, Frédéric

Source: Frontiers in Neuroscience; 5/2/2023, p1-15, 15p

Subject Terms: NEURAL development, AGENESIS of corpus callosum, AUTISM spectrum disorders, NEUROPLASTICITY, PHYSIOLOGY, NEURAL transmission

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

Source: In The American Journal of Human Genetics 3 June 2021 108(6):1161-1163

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Authors: Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

Source: In The American Journal of Human Genetics 6 May 2021 108(5):951-961