B
Boris Keren
Researcher at Pierre-and-Marie-Curie University
Publications - 32
Citations - 2770
Boris Keren is an academic researcher from Pierre-and-Marie-Curie University. The author has contributed to research in topics: Exome sequencing & Autism. The author has an hindex of 20, co-authored 32 publications receiving 2223 citations. Previous affiliations of Boris Keren include French Institute of Health and Medical Research.
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Journal ArticleDOI
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont,Alexandre Reymond,Flore Zufferey,Louise Harewood,Robin G. Walters,Zoltán Kutalik,Danielle Martinet,Yiping Shen,Armand Valsesia,Armand Valsesia,Noam D. Beckmann,Gudmar Thorleifsson,Marco Belfiore,Sonia Bouquillon,Dominique Campion,Nicole de Leeuw,Bert B.A. de Vries,Tõnu Esko,Bridget A. Fernandez,Fernando Fernández-Aranda,José Manuel Fernández-Real,Mònica Gratacòs,Audrey Guilmatre,Juliane Hoyer,Marjo-Riitta Järvelin,R. Frank Kooy,Ants Kurg,Cédric Le Caignec,Katrin Männik,Orah S. Platt,Damien Sanlaville,Mieke M. van Haelst,Sergi Villatoro Gomez,Faida Walha,Bai-Lin Wu,Yongguo Yu,Azzedine Aboura,Marie-Claude Addor,Yves Alembik,Stylianos E. Antonarakis,Benoit Arveiler,Magalie Barth,Nathalie Bednarek,Frédérique Béna,Sven Bergmann,Mylène Beri,Laura Bernardini,Bettina Blaumeiser,Dominique Bonneau,Armand Bottani,Odile Boute,Han G. Brunner,Dorothée Cailley,Patrick Callier,Jean Chiesa,Jacqueline Chrast,Lachlan J. M. Coin,Charles Coutton,Jean-Marie Cuisset,Jean-Christophe Cuvellier,Albert David,Bénédicte de Fréminville,Bruno Delobel,Marie-Ange Delrue,Bénédicte Demeer,Dominique Descamps,Gérard Didelot,Klaus Dieterich,Vittoria Disciglio,Martine Doco-Fenzy,Séverine Drunat,Bénédicte Duban-Bedu,Christèle Dubourg,Julia S. El-Sayed Moustafa,Paul Elliott,Brigitte H. W. Faas,Laurence Faivre,Anne Faudet,Florence Fellmann,Alessandra Ferrarini,Richard I. Fisher,Elisabeth Flori,Lukas Forer,Dominique Gaillard,Marion Gérard,Christian Gieger,Stefania Gimelli,Giorgio Gimelli,Hans J. Grabe,Agnès Guichet,Olivier Guillin,Anna-Liisa Hartikainen,Delphine Héron,Loyse Hippolyte,Muriel Holder,Georg Homuth,Bertrand Isidor,Sylvie Jaillard,Zdenek Jaros,Susana Jiménez-Murcia,Geraldine Joly Helas,Philippe Jonveaux,Satu Kaksonen,Boris Keren,Anita Kloss-Brandstätter,Nine V A M Knoers,David A. Koolen,Peter M. Kroisel,Florian Kronenberg,Audrey Labalme,Emilie Landais,Elisabetta Lapi,Valérie Layet,Solenn Legallic,Bruno Leheup,Barbara Leube,Suzanne M E Lewis,Josette Lucas,Kay D. MacDermot,Páll Magnússon,Christian R. Marshall,Michèle Mathieu-Dramard,Mark I. McCarthy,Mark I. McCarthy,Thomas Meitinger,Maria Antonietta Mencarelli,Giuseppe Merla,Alexandre Moerman,Vincent Mooser,Fanny Morice-Picard,Mafalda Mucciolo,Matthias Nauck,Ndeye Coumba Ndiaye,Ann Nordgren,Laurent Pasquier,Florence Petit,Rolph Pfundt,Ghislaine Plessis,Evica Rajcan-Separovic,Gian Paolo Ramelli,Anita Rauch,Roberto Ravazzolo,André Reis,Alessandra Renieri,Cristóbal Richart,Janina S. Ried,Claudine Rieubland,Wendy Roberts,Katharina M. Roetzer,Caroline Rooryck,Massimiliano Rossi,Evald Saemundsen,Véronique Satre,Claudia Schurmann,Engilbert Sigurdsson,Dimitri J. Stavropoulos,Hreinn Stefansson,Carola Tengstrom,Unnur Thorsteinsdottir,Francisco J. Tinahones,R. Touraine,Louis Vallée,Ellen van Binsbergen,Nathalie Van der Aa,Catherine Vincent-Delorme,Sophie Visvikis-Siest,Peter Vollenweider,Henry Völzke,Anneke T. Vulto-van Silfhout,Gérard Waeber,Carina Wallgren-Pettersson,Robert M. Witwicki,Simon Zwolinksi,Joris Andrieux,Xavier Estivill,James F. Gusella,Omar Gustafsson,Andres Metspalu,Stephen W. Scherer,Kari Stefansson,Alexandra I. F. Blakemore,Jacques S. Beckmann,Philippe Froguel +182 more
TL;DR: In this article, the reciprocal duplication is associated with being clinically underweight, which is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa.
Journal ArticleDOI
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne,Christel Depienne,Delphine Bouteiller,Boris Keren,Emmanuel Cheuret,Karine Poirier,Oriane Trouillard,Baya Benyahia,Chloé Quélin,Wassila Carpentier,Sophie Julia,Alexandra Afenjar,Agnès Gautier,François Rivier,Sophie Meyer,Patrick Berquin,Marie Hélias,Isabelle Py,Serge Rivera,Nadia Bahi-Buisson,Isabelle Gourfinkel-An,Isabelle Gourfinkel-An,Cécile Cazeneuve,Merle Ruberg,Merle Ruberg,Alexis Brice,Alexis Brice,Rima Nabbout,Eric LeGuern,Eric LeGuern +29 more
TL;DR: The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism of Dravet syndrome and suggests that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS.
Journal ArticleDOI
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
Christel Depienne,Oriane Trouillard,Cécile Saint-Martin,Isabelle Gourfinkel-An,Delphine Bouteiller,Wassila Carpentier,Boris Keren,B Abert,Agnès Gautier,Stéphanie Baulac,Alexis Arzimanoglou,Cécile Cazeneuve,Rima Nabbout,Eric LeGuern +13 more
TL;DR: This mutation spectrum, including whole gene deletions, argues in favour of haploinsufficiency as the main mechanism responsible for Dravet syndrome.
Journal ArticleDOI
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan,Candace T. Myers,Patrick Cossette,Philippe Lemay,Dan Spiegelman,Alexandre D. Laporte,Christina Nassif,Ousmane Diallo,Jean Monlong,Maxime Cadieux-Dion,Maxime Cadieux-Dion,Sylvia Dobrzeniecka,Caroline Meloche,Kyle Retterer,Megan T. Cho,Jill A. Rosenfeld,Weimin Bi,Christine Massicotte,Marguerite Miguet,Ledia Brunga,Brigid M. Regan,Kelly Mo,Cory Tam,Amy L Schneider,Georgie Hollingsworth,David R. FitzPatrick,Alan Donaldson,Natalie Canham,Edward Blair,Bronwyn Kerr,Andrew E. Fry,Rhys H. Thomas,Joss Shelagh,Jane A. Hurst,Helen Brittain,Moira Blyth,Robert Roger Lebel,Erica H. Gerkes,Laura Davis-Keppen,Quinn Stein,Wendy K. Chung,Sara J. Dorison,Paul J. Benke,Emily Fassi,Nicole Corsten-Janssen,Erik-Jan Kamsteeg,Frédéric Tran Mau-Them,Ange-Line Bruel,Alain Verloes,Katrin Õunap,Monica H. Wojcik,Monica H. Wojcik,Dara V.F. Albert,Sunita Venkateswaran,Tyson L Ware,D. L. Jones,Yu Chi Liu,Yu Chi Liu,Shekeeb S. Mohammad,Peyman Bizargity,Carlos A. Bacino,Carlos A. Bacino,Vincenzo Leuzzi,Simone Martinelli,Bruno Dallapiccola,Marco Tartaglia,Lubov Blumkin,Klaas J. Wierenga,Gabriela Purcarin,James J. O'Byrne,Sylvia Stockler,Anna Lehman,Boris Keren,Marie-Christine Nougues,Cyril Mignot,Stéphane Auvin,Caroline Nava,Susan M. Hiatt,Martina Bebin,Yunru Shao,Fernando Scaglia,Seema R. Lalani,Richard E. Frye,Imad Jarjour,Stéphanie Jacques,Renee-Myriam Boucher,Emilie Riou,Myriam Srour,Lionel Carmant,Lionel Carmant,Anne Lortie,Philippe Major,Paola Diadori,François Dubeau,Guy D'Anjou,Guillaume Bourque,Samuel F. Berkovic,Lynette G. Sadleir,Philippe M. Campeau,Philippe M. Campeau,Zoha Kibar,Zoha Kibar,Ronald G. Lafrenière,Simon Girard,Simon Girard,Simon Girard,Saadet Mercimek-Mahmutoglu,Cyrus Boelman,Guy A. Rouleau,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford,Danielle M. Andrade,Elsa Rossignol,Elsa Rossignol,Berge A. Minassian,Berge A. Minassian,Jacques L. Michaud,Jacques L. Michaud +119 more
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
Journal ArticleDOI
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Karine Poirier,Yoann Saillour,Yoann Saillour,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Xavier H. Jaglin,Xavier H. Jaglin,Catherine Fallet-Bianco,Rima Nabbout,Laetitia Castelnau-Ptakhine,Laetitia Castelnau-Ptakhine,Agathe Roubertie,Tania Attié-Bitach,Isabelle Desguerre,Isabelle Desguerre,David Geneviève,Christine Barnerias,Boris Keren,Nicolas Lebrun,Nicolas Lebrun,Nathalie Boddaert,Férechté Encha-Razavi,Jamel Chelly,Jamel Chelly +23 more
TL;DR: The discovery of six novel missense mutations in the TUBB3 gene are reported, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.