Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control
Caroline Nava Pinheiro, Amanda, Souza Ferreira, Valdir, Gabriel Lucca, Bruno
Published in Microchemical journal (01.09.2022)
Published in Microchemical journal (01.09.2022)
Get full text
Journal Article
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
Get full text
Journal Article
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel
Published in Nature communications (02.11.2022)
Published in Nature communications (02.11.2022)
Get full text
Journal Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
Get full text
Journal Article
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
Get full text
Journal Article
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
Get full text
Journal Article
GM3 synthase deficiency in non-Amish patients
Heide, Solveig, Jacquemont, Marie-Line, Cheillan, David, Renouil, Michel, Tallot, Marilyn, Schwartz, Charles E., Miquel, Juliette, Bintner, Marc, Rodriguez, Diana, Darcel, Françoise, Buratti, Julien, Haye, Damien, Passemard, Sandrine, Gras, Domitille, Perrin, Laurence, Capri, Yline, Gérard, Bénédicte, Piton, Amélie, Keren, Boris, Thauvin-Robinet, Christel, Duffourd, Yannis, Faivre, Laurence, Poe, Charlotte, Pervillé, Anne, Héron, Delphine, Thévenon, Julien, Arnaud, Lionel, LeGuern, Eric, La Selva, Lorita, Vetro, Annalisa, Guerrini, Renzo, Nava, Caroline, Mignot, Cyril
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
Get full text
Journal Article
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome
Darville, Hélène, Poulet, Aurélie, Rodet-Amsellem, Frédérique, Chatrousse, Laure, Pernelle, Julie, Boissart, Claire, Héron, Delphine, Nava, Caroline, Perrier, Anselme, Jarrige, Margot, Cogé, Francis, Millan, Mark J., Bourgeron, Thomas, Peschanski, Marc, Delorme, Richard, Benchoua, Alexandra
Published in EBioMedicine (01.07.2016)
Published in EBioMedicine (01.07.2016)
Get full text
Journal Article
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, Doummar, Diane
Published in Brain & development (Tokyo. 1979) (01.10.2018)
Published in Brain & development (Tokyo. 1979) (01.10.2018)
Get full text
Journal Article
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD
Published in The Journal of pediatrics (01.06.2017)
Published in The Journal of pediatrics (01.06.2017)
Get full text
Journal Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published in PLoS genetics (16.05.2018)
Published in PLoS genetics (16.05.2018)
Get full text
Journal Article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Hiatt, Susan M, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna C E, Wheless, James W, Lacassie, Yves, Myers, Richard M, Barsh, Gregory S, Sedlacek, Zdenek, Cooper, Gregory M
Published in PLoS genetics (30.11.2018)
Published in PLoS genetics (30.11.2018)
Get full text
Journal Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, Bahlo, Melanie
Published in Human genetics (01.10.2016)
Published in Human genetics (01.10.2016)
Get full text
Journal Article
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Published in Annals of clinical and translational neurology (01.07.2019)
Published in Annals of clinical and translational neurology (01.07.2019)
Get full text
Journal Article
O44: Genome sequencing as a first-tier prenatal diagnostic test
Jobanputra, Vaidehi, Giordano, Jessica, Pervola, Josie, Wilson, Ashley, Guha, Saurav, Thomas-Wilson, Amanda, Rehman, Atteeq, Okur, Volkan, Han, Ted, Esteves, Cecilia, Tinfow, Alexandra, Galloway, Stephanie, Srinivasa, Sowmya T., Khan, Shahid, Brace, Poppy, Nava, Caroline, Perrin, Hannah, Elder, Bruce, Hegedus, Endre, Felice, Vanessa, Phadke, Shruti, Abhyankar, Avinash, Wapner, Ronald
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published in PLoS genetics (01.10.2018)
Published in PLoS genetics (01.10.2018)
Get full text
Journal Article
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
Cartault, François, Nava, Caroline, Malbrunot, Anne-Claire, Munier, Patrick, Hebert, Jean-Christophe, N’guyen, Patrick, Djeridi, Nadia, Pariaud, Philippe, Pariaud, Joelle, Dupuy, Aurélie, Austerlitz, Frédéric, Sarasin, Alain
Published in DNA repair (10.06.2011)
Published in DNA repair (10.06.2011)
Get full text
Journal Article
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas
Published in PloS one (03.03.2014)
Published in PloS one (03.03.2014)
Get full text
Journal Article
P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
Okur, Volkan, Srinivasa, Sowmya Thirumalai, Halstrom, Amanda, Falcone, John, Rehman, Atteeq, Thomas-Wilson, Amanda, Guha, Saurav, Phadke, Shruti, Abhyankar, Avinash, Wilson, Ashley, Nava, Caroline, Khan, Shahid, Hurd, Maurice, Stewart, Sarah, Claudio, Katerine, Jablonski, Anne, Manohar, Jyothi, Kumar, Sonal, Yeung, Michele, Dakin, Gregory, Bellorin-Marin, Omar, Afaneh, Cheguevara, Hudgins, Lisa, Pena, Jessica, Wei, Esther, Gingras, Laura, King, Alexandra, Tung, Judy, Chen, Shuibing, Smith, Ryan, MacDonald, Theresa, Ritter, Megan, Alonso, Lauro, Elemento, Olivier, Udler, Miriam, Goncalves, Marcus, Jobanputra, Vaidehi
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article