A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings

por Cai, Zhuo Ran, McCuaig, Catherine, Hatami, Afshin, Rivière, Jean‐Baptiste, Marcoux, Danielle
Publicado 2022

Routine Clinically Detected Increased ROS1 Transcripts Are Related With ROS1 Expression by Immunohistochemistry and Associated With EGFR Mutations in Lung Adenocarcinoma

por Grenier, Karl, Rivière, Jean-Baptiste, Bencheikh, Bouchra Ouled Amar, Corredor, Andrea Liliam Gomez, Shieh, Benjamin Christopher, Wang, Hangjun, Fiset, Pierre Olivier, Camilleri-Broët, Sophie
Publicado 2023

Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies

por Kinsler, Veronica A, Krengel, Sven, Riviere, Jean-Baptiste, Waelchli, Regula, Chapusot, Carolina, Al-Olabi, Lara, Faivre, Laurence, Haenssle, Holger A, Weibel, Lisa, Jeudy, Géraldine, Vabres, Pierre
Publicado 2014

LINGO1 Variants in the French-Canadian Population

por Bourassa, Cynthia V., Rivière, Jean-Baptiste, Dion, Patrick A., Bernard, Geneviève, Diab, Sabrina, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Fournier, Hélène, Raelson, John, Belouchi, Majid, Rouleau, Guy A.
Publicado 2011

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

por Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., Sherr, Elliott H.
Publicado 2013

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

por Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.
Publicado 2016

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado 2018

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

por Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Publicado 2016

The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

por Chevarin, Martin, Alcantara, Diana, Albuisson, Juliette, Collonge-Rame, Marie-Agnès, Populaire, Céline, Selmani, Zohair, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Callier, Patrick, Duffourd, Yannis, Jonveaux, Philippe, Bignon, Yves-Jean, Coupier, Isabelle, Cornelis, François, Cordier, Christophe, Mozelle-Nivoix, Monique, Rivière, Jean-Baptiste, Kuentz, Paul, Thauvin, Christel, Boidot, Romain, Ghiringhelli, François, O'Driscoll, Marc, Faivre, Laurence, Nambot, Sophie
Publicado 2023

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes

por Krochmalnek, Eric, Accogli, Andrea, St-Onge, Judith, Addour-Boudrahem, Nassima, Prakash, Gyan, Kim, Sung-Hoon, Brunette-Clement, Tristan, Alhajaj, Ghadd, Mougharbel, Lina, Bruneau, Elena, Myers, Kenneth A., Dubeau, Francois, Karamchandani, Jason, Farmer, Jean-Pierre, Atkinson, Jeffrey, Hall, Jeffrey, Chantal Poulin, Chantal, Rosenblatt, Bernard, Lafond-Lapalme, Joel, Weil, Alexander, Fallet-Bianco, Catherine, Albrecht, Steffen, Sonenberg, Nahum, Riviere, Jean-Baptiste, Dudley, Roy W., Srour, Myriam
Publicado 2023

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

por Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado 2016

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

por Thauvin-Robinet, Christel, Lee, Jaclyn S., Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla A.M., St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M., Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V.
Publicado 2014

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

por Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Publicado 2016

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

por Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste
Publicado 2019

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

por Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke B. G. M., Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David
Publicado 2019

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

por Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Publicado 2016

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

por Toriyama, Michinori, Lee, Chanjae, Taylor, S. Paige, Duran, Ivan, Cohn, Daniel H., Bruel, Ange-Line, Tabler, Jacqueline M., Drew, Kevin, Kelley, Marcus R., Kim, Sukyoung, Park, Tae Joo, Braun, Daniella, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J., Marcotte, Edward M., Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K., Wallingford, John B.
Publicado 2016

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

por Mirzaa, Ghayda, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T, Braun, Kees P.J., Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycot, Kym M, Pilz, Daniela T., Ross, M. Elizabeth, Dobyns, William B., Sheridan, Eamonn G.
Publicado 2014

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

por Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Publicado 2012

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Publicado 2021