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1.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M R; Sullivan, Jennifer A; Asleh, Ayat N; Mitra, Jaba; Dar, Mohamad A; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R; Littlejohn, Rebecca Okashah; Dibra, Harpreet K; Byrd, Philip J; Stewart, Grant S; Geckinli, Bilgen B; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E; O'Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F; Thauvin, Christel; Essien Umanah, George K; Van Maldergem, Lionel; Lupski, James R; Roscioli, Tony; Dawson, Valina L; Dawson, Ted M; Antonarakis, Stylianos E.

Am J Hum Genet ; 110(3): 499-515, 2023 03 02.

Artículo en Inglés | MEDLINE | ID: mdl-36724785

2.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura.

Am J Hum Genet ; 110(6): 963-978, 2023 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-37196654

3.

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Lecoquierre, François; Punt, A Mattijs; Ebstein, Frédéric; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Sébastien; Tran Mau-Them, Frédédic; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S; van Slegtenhorst, Marjon A; Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; England, Eleina M; Martinez Ojeda, Mayra; Engle, Elizabeth C; Robson, Caroline D; Morrow, Michelle; Innes, A Micheil; Lamont, Ryan; Sanderson, Matthea; Krüger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio.

Genet Med ; 26(6): 101119, 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38465576

4.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Ahmed, Heba M Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, María Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T.

Am J Hum Genet ; 104(3): 542-552, 2019 03 07.

Artículo en Inglés | MEDLINE | ID: mdl-30827498

5.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre.

Genet Med ; 23(8): 1484-1491, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33833411

6.

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Da Costa, Romain; Bordessoules, Morgane; Guilleman, Magali; Carmignac, Virginie; Lhussiez, Vincent; Courot, Hortense; Bataille, Amandine; Chlémaire, Amandine; Bruno, Céline; Fauque, Patricia; Thauvin, Christel; Faivre, Laurence; Duplomb, Laurence.

Cell Mol Life Sci ; 77(3): 511-529, 2020 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-31218450

7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna.

Genet Med ; 22(7): 1215-1226, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32376980

8.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.

Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Jalal Ahmed, Heba M; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, Mariá Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T.

Am J Hum Genet ; 104(4): 778, 2019 Apr 04.

Artículo en Inglés | MEDLINE | ID: mdl-30929740

9.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Mercier, Sandra; Küry, Sébastien; Shaboodien, Gasnat; Houniet, Darren T; Khumalo, Nonhlanhla P; Bou-Hanna, Chantal; Bodak, Nathalie; Cormier-Daire, Valérie; David, Albert; Faivre, Laurence; Figarella-Branger, Dominique; Gherardi, Romain K; Glen, Elise; Hamel, Antoine; Laboisse, Christian; Le Caignec, Cédric; Lindenbaum, Pierre; Magot, Armelle; Munnich, Arnold; Mussini, Jean-Marie; Pillay, Komala; Rahman, Thahira; Redon, Richard; Salort-Campana, Emmanuelle; Santibanez-Koref, Mauro; Thauvin, Christel; Barbarot, Sébastien; Keavney, Bernard; Bézieau, Stéphane; Mayosi, Bongani M.

Am J Hum Genet ; 93(6): 1100-7, 2013 Dec 05.

Artículo en Inglés | MEDLINE | ID: mdl-24268661

10.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre.

Genet Med ; 23(8): 1585, 2021 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-34257424

11.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

Masurel-Paulet, Alice; Drumare, Isabelle; Holder, Muriel; Cuisset, Jean-Marie; Vallée, Louis; Defoort, Sabine; Bourgois, Béatrice; Pernes, Philippe; Cuvellier, Jean-Christophe; Huet, Frédéric; Chehadeh, Salima El; Thevenon, Julien; Callier, Patrick; Thauvin, Christel; Faivre, Laurence; Andrieux, Joris.

Am J Med Genet A ; 164A(6): 1537-44, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24668847

12.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Chevarin, Martin; Alcantara, Diana; Albuisson, Juliette; Collonge-Rame, Marie-Agnès; Populaire, Céline; Selmani, Zohair; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Callier, Patrick; Duffourd, Yannis; Jonveaux, Philippe; Bignon, Yves-Jean; Coupier, Isabelle; Cornelis, François; Cordier, Christophe; Mozelle-Nivoix, Monique; Rivière, Jean-Baptiste; Kuentz, Paul; Thauvin, Christel; Boidot, Romain; Ghiringhelli, François; O'Driscoll, Marc; Faivre, Laurence; Nambot, Sophie.

Oncotarget ; 14: 111-125, 2023 02 07.

Artículo en Inglés | MEDLINE | ID: mdl-36749285

13.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

Slavotinek, Anne; Lefebvre, Mathilde; Brehin, Anne-Claire; Thauvin, Christel; Patrier, Sophie; Sparks, Teresa N; Norton, Mary; Yu, Jingwei; Huang, Eric.

Eur J Med Genet ; 65(2): 104407, 2022 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-34942405

14.

Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.

Riant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cécile; Hadjadj, Jessica; Auvin, Stéphane; Baille, Guillaume; Beltramone, Marion; Boulanger, Cécile; Cahn, Alice; Cata, Florina; Cheuret, Emmanuel; Cuvellier, Jean-Christophe; Defo, Antoine; Demarquay, Genevieve; Donnet, Anne; Gaillard, Nicolas; Massardier, Evelyne; Guy, Nathalie; Lamoureux, Sylvie; Le Moigno, Laurence; Lucas, Christian; Ratiu, Diana; Redon, Sylvain; Rey, Caroline; Thauvin, Christel; Viallet, François; Tournier-Lasserve, Elisabeth; Ducros, Anne.

Neurology ; 98(1): e51-e61, 2022 01 04.

Artículo en Inglés | MEDLINE | ID: mdl-34649875

15.

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.

Nat Genet ; 52(3): 353, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-32034319

16.

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.

Nat Genet ; 51(10): 1438-1441, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31570889

17.

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.

Nat Genet ; 51(11): 1660, 2019 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-31611689

18.

Psychiatric adult-onset of urea cycle disorders: A case-series.

Bigot, Adrien; Brunault, Paul; Lavigne, Christian; Feillet, François; Odent, Sylvie; Kaphan, Elsa; Thauvin, Christel; Leguy, Vanessa; Broué, Pierre; Tchan, Michel C; Maillot, François.

Mol Genet Metab Rep ; 12: 103-109, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-28725569

19.

[Genomic medicine]. / Médecine génomique.

Thauvin, Christel; Nowak, Frédérique.

Rev Prat ; 71(9): 1029-1036, 2021 Nov.

Artículo en Francés | MEDLINE | ID: mdl-35147327

20.

[Focus on genomic medicine]. / Focus sur la médecine génomique.

Thauvin, Christel; Nowak, Frédérique.

Rev Prat ; 71(9): 1037-1038, 2021 Nov.

Artículo en Francés | MEDLINE | ID: mdl-35147328

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Psychiatric adult-onset of urea cycle disorders: A case-series.

[Genomic medicine]. / Médecine génomique.

[Focus on genomic medicine]. / Focus sur la médecine génomique.