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Elise Schaefer
Researcher at University of Strasbourg
Publications - 93
Citations - 2220
Elise Schaefer is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 23, co-authored 78 publications receiving 1520 citations.
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Journal ArticleDOI
Exome sequencing of Bardet Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker,Christelle Etard,Nathan W. Pierce,Véronique Geoffroy,Elise Schaefer,Jean Muller,Kirsley Chennen,Elisabeth Flori,Valérie Pelletier,Olivier Poch,Vincent Marion,Corinne Stoetzel,Uwe Strähle,Maxence V. Nachury,Hélène Dollfus +14 more
TL;DR: Findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS, a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa.
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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
Vincent Marion,Fanny Stutzmann,Marion Gérard,Charlie De Melo,Elise Schaefer,Aurélie Claussmann,Sophie Hellé,Valérie Delague,Eric H Souied,Catherine Barrey,Alain Verloes,Corinne Stoetzel,Hélène Dollfus +12 more
TL;DR: It is shown that absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction, and BBS17 is a novel BBS gene (BBS17).
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Johann Böhm,Valérie Biancalana,Elizabeth T. DeChene,Marc Bitoun,Christopher R. Pierson,Elise Schaefer,H. Karasoy,Melissa A Dempsey,Fabrice A.C. Klein,Nicolas Dondaine,Christine Kretz,Nicolas Haumesser,Claire Poirson,Anne Toussaint,Rebecca S. Greenleaf,Melissa A. Barger,Lane J. Mahoney,Peter B. Kang,Edmar Zanoteli,John Vissing,Nanna Witting,Andoni Echaniz-Laguna,Carina Wallgren-Pettersson,James J. Dowling,Luciano Merlini,Anders Oldfors,Lilian Bomme Ousager,Judith Melki,Amanda Krause,Christina Jern,Acary Souza Bulle Oliveira,Florence Petit,Aurélia Jacquette,Annabelle Chaussenot,David Mowat,Bruno Leheup,Michele Cristofano,Juan José Poza Aldea,Fabrice Michel,Alain Furby,Jose E. Barcena Llona,Rudy Van Coster,Enrico Bertini,Jon Andoni Urtizberea,Valérie Drouin-Garraud,Christophe Béroud,Bernard Prudhon,Melanie Bedford,Katherine D. Mathews,Lori H. Erby,Stephen A. Smith,Jennifer Roggenbuck,Carol A. Crowe,Allison Brennan Spitale,Sheila C. Johal,Anthony A. Amato,Laurie A. Demmer,Jessica Jonas,Basil T. Darras,Thomas D. Bird,Mercy Y. Laurino,Selman I. Welt,Cynthia Trotter,Pascale Guicheney,Soma Das,Jean-Louis Mandel,Alan H. Beggs,Jocelyn Laporte +67 more
TL;DR: The possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure are discussed.
Journal ArticleDOI
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
Marie Vincent,David Geneviève,Agnès Ostertag,Sandrine Marlin,Didier Lacombe,Dominique Martin-Coignard,Christine Coubes,Albert David,Stanislas Lyonnet,Catheline Vilain,Anne Dieux-Coeslier,Sylvie Manouvrier,Bertrand Isidor,Marie-Line Jacquemont,Sophie Julia,Valérie Layet,Sophie Naudion,Sylvie Odent,Laurent Pasquier,Sybille Pelras,Nicole Philip,Geneviève Pierquin,Fabienne Prieur,Nisrine Aboussair,Tania Attié-Bitach,Geneviève Baujat,Patricia Blanchet,Catherine Blanchet,Hélène Dollfus,Bérénice Doray,Elise Schaefer,Patrick Edery,Fabienne Giuliano,Alice Goldenberg,Cyril Goizet,Agnès Guichet,Christian Herlin,Laetitia Lambert,Bruno Leheup,Jelena Martinovic,Sandra Mercier,Cyril Mignot,Marie-Laure Moutard,Marie-José Perez,Lucile Pinson,Jacques Puechberty,Marjolaine Willems,Hanitra Randrianaivo,Kateline Szaskon,Annick Toutain,Alain Verloes,Jacqueline Vigneron,Elodie Sanchez,Pierre Sarda,Jean-Louis Laplanche,Corinne Collet +55 more
TL;DR: Even though TCOF1 and POLR1D were associated with extreme clinical variability, a clinical and extensive molecular study in a series of 146 patients with Treacher Collins/Franceschetti syndrome found no phenotype–genotype correlation.
Journal ArticleDOI
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Laurence Heidet,Vincent Morinière,Charline Henry,Charline Henry,Lara De Tomasi,Lara De Tomasi,Lara De Tomasi,Madeline Louise Reilly,Madeline Louise Reilly,Madeline Louise Reilly,Camille Humbert,Camille Humbert,Olivier Alibeu,Cécile Fourrage,Christine Bole-Feysot,Patrick Nitschke,Frédéric Tores,Marc Bras,Marc Jeanpierre,Christine Pietrement,Dominique Gaillard,Marie Gonzales,Robert Novo,Elise Schaefer,Joelle Roume,Jelena Martinovic,Valérie Malan,Rémi Salomon,Sophie Saunier,Sophie Saunier,Corinne Antignac,Corinne Antignac,Cécile Jeanpierre,Cécile Jeanpierre +33 more
TL;DR: The targeted exome sequencing of 330 genes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 unrelated patients with CAK UT suggest that PBX1 is involved in monogenicCAKUT in humans and call into question the role of some gene variants recently reported as pathogenic in CAkUT.