Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Chiu, A.T.G., Pei, S.L.C., Mak, C.C.Y., Leung, G.K.C., Yu, M.H.C., Lee, S.L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T.M.‐T., Nambot, S., Faivre, L., Bruel, A.‐L., Rossi, M., Isidor, B., Küry, S., Cogne, B., Besnard, T., Willems, M., Reijnders, M.R.F., Chung, B.H.Y.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
Get full text
Journal Article
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
Get full text
Journal Article
INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report
Bruel, A.‐L., Levy, J., Elenga, N., Defo, A., Favre, A., Lucron, H., Capri, Y., Perrin, L., Passemard, S., Vial, Y., Tabet, A.‐C., Faivre, L., Thauvin‐Robinet, C., Verloes, A.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
Get full text
Journal Article
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
Get full text
Journal Article
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Bruel, A.‐L., Thevenon, J., Huet, F., Jean‐Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau‐Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.‐B., Faivre, L., Thauvin‐Robinet, C.
Published in Clinical Genetics (01.07.2018)
Published in Clinical Genetics (01.07.2018)
Get full text
Journal Article
Publication
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
Get full text
Journal Article
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
Get full text
Journal Article
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
Get full text
Journal Article
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
Lemattre, C., Thevenon, J., Duffourd, Y., Nambot, S., Haquet, E., Vuadelle, B., Genevieve, D., Sarda, P., Bruel, A. L., Kuentz, P., Wells, C. F., Faivre, L., Willems, M.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
Get full text
Journal Article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
Schmetz, Ariane, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie, Edery, Patrick, Faivre, Laurence, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan, López-González, Vanesa, Maraval, Julien, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe, Posmyk, Renata, Putoux, Audrey, Reis, André, Sánchez-Soler, María José, Suh, Julia, Tkemaladze, Tinatin, Tran Mau Them, Frédéric, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar
Published in Human genetics (01.01.2024)
Published in Human genetics (01.01.2024)
Get full text
Journal Article
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O, Zaki, Maha S, Duan, Ruizhi, Zhu, Changlian, Xu, Yiran, Gao, Chao, Sepulveda-Morales, Tania, Maroofian, Reza, Alkhawaja, Issam A, Khawaja, Mariam, Alhalasah, Hunaida, Houlden, Henry, Madden, Jill A, Turchetti, Valentina, Marafi, Dana, Agrawal, Pankaj B, Schatz, Ulrich, Rotenberg, Ari, Rotenberg, Joshua, Mancini, Grazia M S, Bakhtiari, Somayeh, Kruer, Michael, Thiffault, Isabelle, Hirsch, Steffen, Hempel, Maja, Stühn, Lara G, Haack, Tobias B, Posey, Jennifer E, Lupski, James R, Lee, Hyunpil, Sarn, Nicholas B, Eng, Charis, Gonzaga-Jauregui, Claudia, Zhang, Bin, Wang, Heng
Published in Human molecular genetics (04.10.2023)
Published in Human molecular genetics (04.10.2023)
Get full text
Journal Article
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C
Published in BMC health services research (21.04.2023)
Published in BMC health services research (21.04.2023)
Get full text
Journal Article
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
Lehalle, Daphné, Bruel, Ange‐Line, Vitobello, Antonio, Denommé‐Pichon, Anne‐Sophie, Duffourd, Yannis, Assoum, Mirna, Amiel, Jeanne, Baujat, Geneviève, Bessieres, Bettina, Bigoni, Stefania, Burglen, Lydie, Captier, Guillaume, Dard, Rodolphe, Edery, Patrick, Fortunato, Fernanda, Geneviève, David, Goldenberg, Alice, Guibaud, Laurent, Héron, Delphine, Holder‐Espinasse, Muriel, Lederer, Damien, Lopez Grondona, Fermina, Grotto, Sarah, Marlin, Sandrine, Nadeau, Gwenaël, Picard, Arnaud, Rossi, Massimiliano, Roume, Joëlle, Sanlaville, Damien, Saugier‐Veber, Pascale, Triau, Stéphane, Valenzuela Palafoll, Maria Irene, Vanlerberghe, Clémence, Van Maldergem, Lionel, Vezain, Myriam, Vincent‐Delorme, Catherine, Zivi, Einat, Thevenon, Julien, Vabres, Pierre, Thauvin‐Robinet, Christel, Callier, Patrick, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.07.2022)
Published in American journal of medical genetics. Part A (01.07.2022)
Get full text
Journal Article
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
Vitobello, A., Mau-Them, F. T., Bruel, A. L., Duffourd, Y., Tisserant, E., Callier, P., Moutton, S., Nambot, S., Lehalle, D., Jean-Marcais, N., Delanne, J., Racine, C., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Willems, M., Coubes, C., Genevieve, D., Houcinat, N., Masurel-Paulet, A., Mosca-Boidron, A., Sorlin, A., Isidor, Bertrand, Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogné, Benjamin, Boland, Anne, Olaso, Robert, Philippe, C., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C.
Published in European journal of human genetics : EJHG (2020)
Get full text
Published in European journal of human genetics : EJHG (2020)
Journal Article
CO8.2 - Analyse coût-efficacité du séquençage de l'exome chez les patients atteints de déficience intellectuelle
Lejeune, C., Robert-Viard, C., Bruel, AL, Boland, A., Duffourd, Y., Muller, J., Binquet, C., Thauvin-Robinet, C.
Published in Journal of Epidemiology and Population Health (01.05.2024)
Published in Journal of Epidemiology and Population Health (01.05.2024)
Get full text
Journal Article
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.
Published in International journal of molecular sciences (20.07.2022)
Published in International journal of molecular sciences (20.07.2022)
Get full text
Journal Article
CO8.2 - Analyse coût-efficacité du séquençage de l'exome chez les patients atteints de déficience intellectuelle
Lejeune, C., Robert-Viard, C., Bruel, AL, Boland, A., Duffourd, Y., Muller, J., Binquet, C., Thauvin-Robinet, C.
Published in Journal of Epidemiology and Population Health (01.05.2024)
Published in Journal of Epidemiology and Population Health (01.05.2024)
Get full text
Journal Article
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Bruel, A-L, Thevenon, J, Huet, F, Jean-Marcais, N, Odent, S, Dubourg, C, Lehalle, D, Tran Mau-Them, F, Philippe, C, Moutton, S, Houcinat, N, Gay, S, Guibaud, L, Duffourd, Y, Rivière, J-B, Faivre, L, Thauvin-Robinet, C
Published in Clinical genetics (01.07.2018)
Published in Clinical genetics (01.07.2018)
Get full text
Report
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Den Hoed, J, De Boer, E, Voisin, N, Dingemans, Ajm, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, Sm, Banka, S, Bena, Fs, Ben-Zeev, B, Bonagura, Vr, A-L Bruel, Brunet, T, Brunner, Hg, Chew, Hb, Chrast, J, Cimbalistienė, L, Coon, H, The Ddd Study, Délot, Ec, Démurger, F, A-S Denommé-Pichon, Depienne, C, Donnai, D, Dyment, Da, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Y Hamzavi Abedi, Hanebeck, J, Hehir-Kwa, Jy, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, Kl, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, Aa, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, Mcwalter, K, Meiner, V, Mikati, Ma, Miyatake, S, Mizuguchi, T, Moey, Lh, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, Tb, Parker, M, Petersen, A, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, Ja, Santiago-Sim, T, Schwager, C, Sinnema, M, L Snijders Blok, Spillmann, Rc, Stegmann, Apa, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-Dos-Santos, Jh, Vergano, Sa, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, Df, Kleefstra, T, Reymond, A, Fisher, Se, Vissers, Lelm
Published in bioRxiv (24.10.2020)
Published in bioRxiv (24.10.2020)
Get full text
Paper