Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
Collins Hutchinson, Meagan L., St‐Onge, Judith, Schlienger, Sabrina, Boudrahem‐Addour, Nassima, Mougharbel, Lina, Michaud, Jean‐Francois, Lloyd, Clara, Bruneau, Elena, Roux, Cedric, Sahly, Ahmed N., Osterman, Bradley, Myers, Kenneth A., Rouleau, Guy A., Jimenez Cruz, Daniel Alexander, Rivière, Jean‐Baptiste, Accogli, Andrea, Charron, Frederic, Srour, Myriam
Published in Movement disorders (01.02.2024)
Published in Movement disorders (01.02.2024)
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Novel de novo SHANK3 mutation in autistic patients
Gauthier, Julie, Spiegelman, Dan, Piton, Amélie, Lafrenière, Ronald G., Laurent, Sandra, St-Onge, Judith, Lapointe, Line, Hamdan, Fadi F., Cossette, Patrick, Mottron, Laurent, Fombonne, Éric, Joober, Ridha, Marineau, Claude, Drapeau, Pierre, Rouleau, Guy A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2009)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2009)
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Helping Bridge the Great Divides: Supporting Nurse Communication at End of Life
Lee, Sondra B, Forehand, Jeffery W, St Onge, Judith L, Acker, Kristi A
Published in Journal of Christian nursing (01.10.2018)
Published in Journal of Christian nursing (01.10.2018)
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Teaching safety in nursing practice: Is emotional intelligence a vital component?
Parnell, Robin Brush, St. Onge, Judith L.
Published in Teaching and learning in nursing (01.04.2015)
Published in Teaching and learning in nursing (01.04.2015)
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Jansen, Laura A, Mirzaa, Ghayda M, Ishak, Gisele E, O'Roak, Brian J, Hiatt, Joseph B, Roden, William H, Gunter, Sonya A, Christian, Susan L, Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G, Shendure, Jay, Hevner, Robert F, Dobyns, William B
Published in Brain (London, England : 1878) (01.06.2015)
Published in Brain (London, England : 1878) (01.06.2015)
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Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
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.
Published in Journal of investigative dermatology (01.04.2016)
Published in Journal of investigative dermatology (01.04.2016)
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The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
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
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
FASSIO, Anna, PATRY, Lysanne, CORRADI, Anna, BALDELLI, Pietro, LAPOINTE, Line, ST-ONGE, Judith, MELOCHE, Caroline, MOTTRON, Laurent, VALTORTA, Flavia, KHOA NGUYEN, Dang, ROULEAU, Guy A, BENFENATI, Fabio, CONGIA, Sonia, COSSETTE, Patrick, ONOFRI, Franco, PITON, Amelie, GAUTHIER, Julie, POZZI, Davide, MESSA, Mirko, DEFRANCHI, Enrico, FADDA, Manuela
Published in Human molecular genetics (15.06.2011)
Published in Human molecular genetics (15.06.2011)
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Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families
Xiong, Lan, Dion, Patrick, Montplaisir, Jacques, Levchenko, Anastasia, Thibodeau, Pascale, Karemera, Liliane, Rivière, Jean-Baptiste, St-Onge, Judith, Gaspar, Claudia, Dubé, Marie-Pierre, Desautels, Alex, Turecki, Gustavo, Rouleau, Guy A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.10.2007)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.10.2007)
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
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
Published in Nature genetics (01.10.2019)
Published in Nature genetics (01.10.2019)
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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
Accogli, Andrea, Russell, Laura, Sébire, Guillaume, Rivière, Jean-Baptiste, St-Onge, Judith, Addour-Boudrahem, Nassima, Laporte, Alexandre Dionne, Rouleau, Guy A., Saint-Martin, Christine, Srour, Myriam
Published in Neurogenetics (01.05.2019)
Published in Neurogenetics (01.05.2019)
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
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
Published in Nature genetics (01.03.2020)
Published in Nature genetics (01.03.2020)
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
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
Published in Nature genetics (01.11.2019)
Published in Nature genetics (01.11.2019)
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Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Gauthier‐Vasserot, Alexandra, Thauvin‐Robinet, Christel, Bruel, Ange‐Line, Duffourd, Yannis, St‐Onge, Judith, Jouan, Thibaud, Rivière, Jean‐Baptiste, Heron, Delphine, Donadieu, Jean, Bellanné‐Chantelot, Christine, Briandet, Claire, Huet, Frédéric, Kuentz, Paul, Lehalle, Daphné, Duplomb‐Jego, Laurence, Gautier, Elodie, Maystadt, Isabelle, Pinson, Lucile, Amram, Daniel, El Chehadeh, Salima, Melki, Judith, Julia, Sophia, Faivre, Laurence, Thevenon, Julien
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1
Levchenko, Anastasia, Montplaisir, Jacques-Yves, Asselin, Géraldine, Provost, Sylvie, Girard, Simon L., Xiong, Lan, Lemyre, Emmanuelle, St-Onge, Judith, Thibodeau, Pascale, Desautels, Alex, Turecki, Gustavo, Gaspar, Claudia, Dubé, Marie-Pierre, Rouleau, Guy A.
Published in Movement disorders (15.01.2009)
Published in Movement disorders (15.01.2009)
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Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations
Courcet, Jean-Benoît, Minello, Anne, Prieur, Fabienne, Morisse, Laurent, Phelip, Jean-Marc, Beurdeley, Alain, Meynard, Daniel, Massenet, Denis, Lacassin, Flore, Duffourd, Yannis, Gigot, Nadège, St-Onge, Judith, Hillon, Patrick, Vanlemmens, Claire, Mousson, Christiane, Cerceuil, Jean-Pierre, Guiu, Boris, Thevenon, Julien, Thauvin-Robinet, Christel, Jacquemin, Emmanuel, Rivière, Jean-Baptiste, Michel-Calemard, Laurence, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
Gueneau, Lucie, Duplomb, Laurence, Sarda, Pierre, Hamel, Christian, Aral, Bernard, Chehadeh, Salima El, Gigot, Nadège, St-Onge, Judith, Callier, Patrick, Thevenon, Julien, Huet, Frédéric, Carmignac, Virginie, Droin, Nathalie, Faivre, Laurence, Thauvin-Robinet, Christel
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
Gauthier, Julie, Bonnel, Anna, St-Onge, Judith, Karemera, Liliane, Laurent, Sandra, Mottron, Laurent, Fombonne, Éric, Joober, Ridha, Rouleau, Guy A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.01.2005)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.01.2005)
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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
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
Published in Annals of clinical and translational neurology (01.01.2017)
Published in Annals of clinical and translational neurology (01.01.2017)
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An innovative tool for experiential learning of nursing quality and safety competencies
St Onge, Judith, Hodges, Tracey, McBride, Marilyn, Parnell, Robin
Published in Nurse educator (01.03.2013)
Published in Nurse educator (01.03.2013)
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