Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome

著者: Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.
出版事項 2013

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

著者: Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.
出版年 Am J Hum Genet (2017)

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

著者: 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
出版事項 2014

LINGO1 Variants in the French-Canadian Population

著者: 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.
出版事項 2011

Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

著者: Shekarabi, Masoud, Girard, Nathalie, Rivière, Jean-Baptiste, Dion, Patrick, Houle, Martin, Toulouse, André, Lafrenière, Ronald G., Vercauteren, Freya, Hince, Pascale, Laganiere, Janet, Rochefort, Daniel, Faivre, Laurence, Samuels, Mark, Rouleau, Guy A.
出版事項 2008

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

著者: Salin-Cantegrel, Adèle, Rivière, Jean-Baptiste, Shekarabi, Masoud, Rasheed, Sarah, DaCal, Sandra, Laganière, Janet, Gaudet, Rébecca, Rochefort, Daniel, Lesca, Gaëtan, Gaspar, Claudia, Dion, Patrick A., Lapointe, Jean-Yves, Rouleau, Guy A.
出版事項 2011

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

著者: Xiong, Lan, Catoire, Hélène, Dion, Patrick, Gaspar, Claudia, Lafrenière, Ronald G., Girard, Simon L., Levchenko, Anastasia, Rivière, Jean-Baptiste, Fiori, Laura, St-Onge, Judith, Bachand, Isabelle, Thibodeau, Pascale, Allen, Richard, Earley, Christopher, Turecki, Gustavo, Montplaisir, Jacques, Rouleau, Guy A.
出版事項 2009

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

著者: 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.
出版事項 2013

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

著者: Courcet, Jean- Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Alain, Naim, Valeria, Courcet-Degrolard, Emilie, Aubriot-Lorton, Marie- Hélène, Martin, Laurent, Abrid, Jamal Eddin, Thauvin, Christel, Sefiani, Abdelaziz, Vabres, Pierre, Faivre, Laurence
出版年 Eur J Hum Genet (2015)

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

著者: 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.
出版年 Brain (2015)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

著者: 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.
出版年 PLoS Biol (2016)

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

著者: Thevenon, Julien, Duplomb, Laurence, Phadke, Shubha, Eguether, Thibaut, Saunier, Aline, Avila, Magali, Carmignac, Virginie, Bruel, Ange-Line, St-Onge, Judith, Duffourd, Yannis, Pazour, Gregory J., Franco, Brunella, Attie-Bitach, Tania, Masurel-Paulet, Alice, Rivière, Jean-Baptiste, Cormier-Daire, Valérie, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
出版年 Clin Genet (2016)

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

著者: Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S
出版年 Eur J Hum Genet (2015)

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

著者: Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B, Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
出版年 Eur J Hum Genet (2017)

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

著者: 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.
出版年 Genet Med (2018)

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

著者: Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, Geneviève, David
出版年 Eur J Hum Genet (2019)

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

著者: Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.
出版事項 2011

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

著者: Merner, Nancy D., Girard, Simon L., Catoire, Hélène, Bourassa, Cynthia V., Belzil, Véronique V., Rivière, Jean-Baptiste, Hince, Pascale, Levert, Annie, Dionne-Laporte, Alexandre, Spiegelman, Dan, Noreau, Anne, Diab, Sabrina, Szuto, Anna, Fournier, Hélène, Raelson, John, Belouchi, Majid, Panisset, Michel, Cossette, Patrick, Dupré, Nicolas, Bernard, Geneviève, Chouinard, Sylvain, Dion, Patrick A., Rouleau, Guy A.
出版事項 2012

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

著者: 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
出版年 Ann Clin Transl Neurol (2016)

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

著者: 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.
出版年 J Invest Dermatol (2016)