J
Juliane Hoyer
Researcher at University of Erlangen-Nuremberg
Publications - 55
Citations - 5267
Juliane Hoyer is an academic researcher from University of Erlangen-Nuremberg. The author has contributed to research in topics: Haploinsufficiency & Missense mutation. The author has an hindex of 30, co-authored 54 publications receiving 4597 citations. Previous affiliations of Juliane Hoyer include St Mary's Hospital.
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Journal ArticleDOI
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch,Dagmar Wieczorek,Elisabeth Graf,Thomas Wieland,Sabine Endele,Thomas Schwarzmayr,Beate Albrecht,Deborah Bartholdi,Jasmin Beygo,Nataliya Di Donato,Andreas Dufke,Kirsten Cremer,Maja Hempel,Denise Horn,Juliane Hoyer,Pascal Joset,Albrecht Röpke,Ute Moog,Angelika Riess,Christian Thiel,Andreas Tzschach,Antje Wiesener,Eva Wohlleber,Christiane Zweier,Arif B. Ekici,Alexander M. Zink,Andreas Rump,Christa Meisinger,Harald Grallert,Heinrich Sticht,Annette Schenck,Hartmut Engels,Gudrun A. Rappold,Evelin Schröck,Peter Wieacker,Olaf Riess,Thomas Meitinger,André Reis,Tim M. Strom +38 more
TL;DR: The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
Journal ArticleDOI
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch,Juliane Hoyer,Sabine Guth,Christiane Zweier,Cornelia Kraus,Christian Becker,Martin Zenker,Ulrike Hüffmeier,Christian Thiel,Franz Rüschendorf,Peter Nürnberg,André Reis,Udo Trautmann +12 more
TL;DR: The diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotypes, X‐inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation is analyzed.
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.
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,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 Maennik,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-Brandstaetter,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,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,Renaud Touraine,Louis Vallée,Ellen van Binsbergen,Nathalie Van der Aa,Catherine Vincent-Delorme,Sophie Visvikis-Siest,Peter Vollenweider,Henry Voelzke,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 +180 more
TL;DR: The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
Journal ArticleDOI
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Christiane Zweier,Maarit Peippo,Juliane Hoyer,Sérgio B. Sousa,Armand Bottani,Jill Clayton-Smith,William Reardon,Jorge A. Saraiva,Alexandra Cabral,Ina Göhring,Koenraad Devriendt,Thomy de Ravel,Emilia K. Bijlsma,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alfredo Orrico,Monika Cohen,Alexander Dreweke,André Reis,Peter Nürnberg,Anita Rauch +20 more
TL;DR: The Pitt-Hopkins syndrome is established as a distinct but probably heterogeneous entity caused by autosomal dominant de novo mutations in TCF4, which impaired the interaction of TCF 4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct.