Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: (1)H NMR spectroscopy and genetic testing

av Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
I publikationen Orphanet J Rare Dis (2019)

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

av González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel
Publicerad 2008

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

av Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly
Publicerad 2008

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

av Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly
Publicerad 2009

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

av Munnich, Arnold, Demily, Caroline, Frugère, Lisa, Duwime, Charlyne, Malan, Valérie, Barcia, Giulia, Vidal, Céline, Throo, Emeline, Besmond, Claude, Hubert, Laurence, Roland-Manuel, Gilles, Malen, Jean-Pierre, Ferreri, Mélanie, Hanein, Sylvain, Thalabard, Jean-Christophe, Boddaert, Nathalie, Assouline, Moïse
I publikationen Mol Autism (2019)

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

av Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale
Publicerad 2013

Mutations in BOREALIN cause thyroid dysgenesis

av Carré, Aurore, Stoupa, Athanasia, Kariyawasam, Dulanjalee, Gueriouz, Manelle, Ramond, Cyrille, Monus, Taylor, Léger, Juliane, Gaujoux, Sébastien, Sebag, Frédéric, Glaser, Nicolas, Zenaty, Delphine, Nitschke, Patrick, Bole-Feysot, Christine, Hubert, Laurence, Lyonnet, Stanislas, Scharfmann, Raphaël, Munnich, Arnold, Besmond, Claude, Taylor, William, Polak, Michel
I publikationen Hum Mol Genet (2017)

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

av Michot, Caroline, Mamoune, Asmaa, Vamecq, Joseph, Viou, Mai Thao, Hsieh, Lu-Sheng, Testet, Eric, Lainé, Jeanne, Hubert, Laurence, Dessein, Anne-Frédérique, Fontaine, Monique, Ottolenghi, Chris, Fouillen, Laetitia, Nadra, Karim, Blanc, Etienne, Bastin, Jean, Candon, Sophie, Pende, Mario, Munnich, Arnold, Smahi, Asma, Djouadi, Fatima, Carman, George M., Romero, Norma, de Keyzer, Yves, de Lonlay, Pascale
Publicerad 2013

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

av Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef
I publikationen Am J Hum Genet (2017)

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

av Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.
I publikationen Am J Hum Genet (2017)

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

av Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
I publikationen Genet Med (2018)

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

av Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
I publikationen Genet Med (2018)