Christiane Zweier

Affiliations
  • Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
ORCID: 0000-0001-8002-2020

Publications (59)

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Clinical genetics
Avec: Céline B Gerber , Anna Fliedner , Oliver Bartsch , Siren Berland , Malin Dewenter , Marte Haug , Ian Hayes , Purificacion Marin-Reina , Paul R Mark , Francisco Martinez-Castellano , Isabelle Maystadt , Deniz Karadurmus , Katharina Steindl , Antje Wiesener , Markus Zweier , Heinrich Sticht , Christiane Zweier

Journal of personalized medicine
Avec: Dennis Kraemer , Dillenn Terumalai , Maria Livia Famiglietti , Isabel Filges , Pascal Joset , Samuel Koller , Fabienne Maurer , Stéphanie Meier , Thierry Nouspikel , Javier Sanz , Christiane Zweier , Marc Abramowicz , Wolfgang Berger , Sven Cichon , André Schaller , Andrea Superti-Furga , Valérie Barbié , Anita Rauch

Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Avec: Anne Gregor , Christiane Zweier

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cosima M Schmid , Anne Gregor , Gregory Costain , Chantal F Morel , Lauren Massingham , Jennifer Schwab , Chloé Quélin , Marie Faoucher , Julie Kaplan , Rebecca Procopio , Carol J Saunders , Ana S A Cohen , Gabrielle Lemire , Stephanie Sacharow , Anne O'Donnell-Luria , Ranit Jaron Segal , Jessica Kianmahd Shamshoni , Daniela Schweitzer , Darius Ebrahimi-Fakhari , Kristin Monaghan , Timothy Blake Palculict , Melanie P Napier , Alice Tao , Bertrand Isidor , Kamran Moradkhani , André Reis , Heinrich Sticht , Auteur inconnu , Wendy K Chung , Christiane Zweier

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances
Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Raissa Relator , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Antonio Vitobello , Leonie A Menke

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in

Frontiers in neurology
Avec: Dilbar Mammadova , Cornelia Kraus , Thomas Leis , Bernt Popp , Christiane Zweier , Andre Reis , Regina Trollmann

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

European journal of medical genetics
Avec: Katalin L M L Hetzelt , Cornelia Kraus , Stefan Kusnik , Christian T Thiel , Steffen Uebe , Arif B Ekici , Regina Trollmann , André Reis , Christiane Zweier

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Human mutation
Avec: Gillian I Rice , Sehoon Park , Francesco Gavazzi , Laura A Adang , Loveline A Ayuk , Lien Van Eyck , Luis Seabra , Christophe Barrea , Roberta Battini , Alexandre Belot , Stefan Berg , Thierry Billette de Villemeur , Annette E Bley , Lubov Blumkin , Odile Boespflug-Tanguy , Tracy A Briggs , Elise Brimble , Russell C Dale , Niklas Darin , François-Guillaume Debray , Valentina De Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake Af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Julie Harvengt , Bénédicte Heron , Delphine Heron , Diedre A Kelly , Dorit Lev , Virginie Levrat , John H Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie-Christine Nougues , Ilena Oppermann , Belén Pérez-Dueñas , Bernt Popp , Mathieu P Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith Van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum J Wilson , Ayelet Zerem , Christiane Zweier , Sameer M Zuberi , Simona Orcesi , Adeline L Vanderver , Sun Hur , Yanick J Crow

Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.

Scientific reports
Avec: Jonas Straub , Anne Gregor , Tatjana Sauerer , Anna Fliedner , Laila Distel , Christine Suchy , Arif B Ekici , Fulvia Ferrazzi , Christiane Zweier

Journal of medical genetics
Avec: Audrey Schalk , Margot A Cousin , Nikita R Dsouza , Thomas D Challman , Karen E Wain , Zoe Powis , Kelly Minks , Aurélien Trimouille , Eulalie Lasseaux , Didier Lacombe , Chloé Angelini , Vincent Michaud , Julien Van-Gils , Nino Spataro , Anna Ruiz , Elizabeth Gabau , Elliot Stolerman , Camerun Washington , Ray Louie , Brendan C Lanpher , Jennifer L Kemppainen , Micheil Innes , Frank Kooy , Marije Meuwissen , Alice Goldenberg , Francois Lecoquierre , Gabriella Vera , Karin E M Diderich , Beth Sheidley , Christelle Moufawad El Achkar , Meredith Park , Fadi F Hamdan , Jacques L Michaud , Ann J Lewis , Christiane Zweier , André Reis , Matias Wagner , Heike Weigand , Hubert Journel , Boris Keren , Sandrine Passemard , Cyril Mignot , Koen van Gassen , Eva H Brilstra , Gina Itzikowitz , Emily O'Heir , Jake Allen , Kirsten A Donald , Bruce Richard Korf , Tammi Skelton , Michelle Thompson , Nathaniel H Robin , Natasha L Rudy , William B Dobyns , Kimberly Foss , Yuri Alexander Zarate , Katherine A Bosanko , Yves Alembik , Benjamin Durand , Frederic Tran Mau-Them , Emmanuelle Ranza , Xavier Blanc , Stylianos E Antonarakis , Kirsty McWalter , Erin Torti , Francisca Millan , Amy Dameron , Mari Tokita , Michael T Zimmermann , Eric W Klee , Amelie Piton , Benedicte Gerard

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Scientific reports
Avec: Anna Fliedner , Anne Gregor , Fulvia Ferrazzi , Arif B Ekici , Heinrich Sticht , Christiane Zweier

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Human molecular genetics
Avec: Anne Gregor , Tanja Meerbrei , Thorsten Gerstner , Annick Toutain , Sally Ann Lynch , Karen Stals , Caroline Maxton , Johannes R Lemke , John A Bernat , Hannah M Bombei , Nicola Foulds , David Hunt , Alma Kuechler , Jasmin Beygo , Petra Stöbe , Arjan Bouman , Maria Palomares-Bralo , Fernando Santos-Simarro , Sixto Garcia-Minaur , Marta Pacio-Miguez , Bernt Popp , Georgia Vasileiou , Moritz Hebebrand , André Reis , Sarah Schuhmann , Mandy Krumbiegel , Natasha J Brown , Peter Sparber , Lyusya Melikyan , Liudmila Bessonova , Tatiana Cherevatova , Artem Sharkov , Natalia Shcherbakova , Tabib Dabir , Usha Kini , Eva M C Schwaibold , Tobias B Haack , Marta Bertoli , Sabine Hoffjan , Ruth Falb , Marwan Shinawi , Heinrich Sticht , Christiane Zweier

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

American journal of medical genetics. Part A
Avec: Katalin L M L Hetzelt , Martin Winterholler , Frank Kerling , Christophe Rauch , Arif B Ekici , Andreas Winterpacht , Georgia Vasileiou , Steffen Uebe , Christian T Thiel , Cornelia Kraus , André Reis , Christiane Zweier

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Clinical genetics
Avec: Bernt Popp , Thierry Bienvenu , Irina Giurgea , Julia Metreau , Cornelia Kraus , André Reis , Jan Fischer , María Palomares Bralo , Jair Tenorio-Castaño , Pablo Lapunzina , Berta Almoguera , Fermina Lopez-Grondona , Heinrich Sticht , Christiane Zweier

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics
Avec: Servane de Masfrand , Benjamin Cogné , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Pascale Saugier-Veber , Amélie Piton , Bertrand Isidor

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.

Scientific reports
Avec: Matthias Christen , Anne Gregor , Rodrigo Gutierrez-Quintana , Jos Bongers , Angie Rupp , Jacques Penderis , G Diane Shelton , Vidhya Jagannathan , Christiane Zweier , Tosso Leeb

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

European journal of human genetics : EJHG
Avec: Dana E Layo-Carris , Emily E Lubin , Annabel K Sangree , Kelly J Clark , Emily L Durham , Elizabeth M Gonzalez , Sarina Smith , Rajesh Angireddy , Xiao Min Wang , Erin Weiss , Roberto Mendoza-Londono , Lucie Dupuis , Nadirah Damseh , Danita Velasco , Irene Valenzuela , Marta Codina-Solà , Catherine Ziats , Jaclyn Have , Katie Clarkson , Dora Steel , Manju Kurian , Katy Barwick , Diana Carrasco , Aditi I Dagli , M J M Nowaczyk , Miroslava Hančárová , Šárka Bendová , Darina Prchalova , Zdeněk Sedláček , Alica Baxová , Catherine Bearce Nowak , Jessica Douglas , Wendy K Chung , Nicola Longo , Konrad Platzer , Chiara Klöckner , Luisa Averdunk , Dagmar Wieczorek , Ilona Krey , Christiane Zweier , Andre Reis , Tugce Balci , Marleen Simon , Hester Y Kroes , Antje Wiesener , Georgia Vasileiou , Nikolaos M Marinakis , Danai Veltra , Christalena Sofocleous , Konstantina Kosma , Joanne Traeger Synodinos , Konstantinos A Voudris , Marie-Laure Vuillaume , Paul Gueguen , Nicolas Derive , Estelle Colin , Clarisse Battault , Billie Au , Martin Delatycki , Mathew Wallis , Lyndon Gallacher , Fatma Majdoub , Noor Smal , Sarah Weckhuysen , An-Sofie Schoonjans , R Frank Kooy , Marije Meuwissen , Benjamin T Cocanougher , Kathryn Taylor , Carolyn E Pizoli , Marie T McDonald , Philip James , Elizabeth R Roeder , Rebecca Littlejohn , Nicholas A Borja , Willa Thorson , Kristine King , Radka Stoeva , Manon Suerink , Esther Nibbeling , Stephanie Baskin , Gwenaël L E Guyader , Julie Kaplan , Candace Muss , Deanna Alexis Carere , Elizabeth J K Bhoj , Laura M Bryant

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

American journal of human genetics
Avec: Maolei Gong , Jiayi Li , Zailong Qin , Matheus Vernet Machado Bressan Wilke , Yijun Liu , Qian Li , Haoran Liu , Chen Liang , Joel A Morales-Rosado , Ana S A Cohen , Susan S Hughes , Bonnie R Sullivan , Valerie Waddell , Marie-José H van den Boogaard , Richard H van Jaarsveld , Ellen van Binsbergen , Koen L van Gassen , Tianyun Wang , Susan M Hiatt , Michelle D Amaral , Whitley V Kelley , Jianbo Zhao , Weixing Feng , Changhong Ren , Yazhen Yu , Nicole J Boczek , Matthew J Ferber , Carrie Lahner , Sherr Elliott , Yiyan Ruan , Cyril Mignot , Boris Keren , Hua Xie , Xiaoyan Wang , Bernt Popp , Christiane Zweier , Juliette Piard , Christine Coubes , Frederic Tran Mau-Them , Hana Safraou , A Micheil Innes , Julie Gauthier , Jacques L Michaud , Daniel C Koboldt , Odent Sylvie , Marjolaine Willems , Wen-Hann Tan , Benjamin Cogne , Claudine Rieubland , Dominique Braun , Scott Douglas McLean , Konrad Platzer , Pia Zacher , Henry Oppermann , Lucie Evenepoel , Pierre Blanc , Laïla El Khattabi , Neshatul Haque , Nikita R Dsouza , Michael T Zimmermann , Raul Urrutia , Eric W Klee , Yiping Shen , Hongzhen Du , Leonard Rappaport , Chang-Mei Liu , Xiaoli Chen

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Clinical genetics
Avec: Marcella Zollino , Christiane Zweier , Ingrid D Van Balkom , David A Sweetser , Joseph Alaimo , Emilia K Bijlsma , Jannine Cody , Sarah H Elsea , Irina Giurgea , Marina Macchiaiolo , Robert Smigiel , Ronald L Thibert , Ingrid Benoist , Jill Clayton-Smith , Channa F De Winter , Stijn Deckers , Anusha Gandhi , Sylvia Huisman , Dagmar Kempink , Frea Kruisinga , Vittoria Lamacchia , Giuseppe Marangi , Leonie Menke , Paul Mulder , Ann Nordgren , Alessandra Renieri , Sue Routledge , Carol J Saunders , Agnieszka Stembalska , Hans Van Balkom , Sandra Whalen , Raoul C Hennekam

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Annals of clinical and translational neurology
Avec: Jillian M Cameron , Snezana Maljevic , Umesh Nair , Ye Htet Aung , Benjamin Cogné , Stéphane Bézieau , Edward Blair , Bertrand Isidor , Christiane Zweier , André Reis , Mary Kay Koenig , Timothy Maarup , Dean Sarco , Alexandra Afenjar , A H M Mahbubul Huq , Mary Kukolich , Thierry Billette de Villemeur , Caroline Nava , Bénédicte Héron , Steven Petrou , Samuel F Berkovic

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Clinical genetics
Avec: Marcello Niceta , Domenico Barbuti , Neerja Gupta , Carlos Ruggiero , Eduardo F Tizzano , Luitgard Graul-Neumann , Sabina Barresi , Gen Nishimura , Irene Valenzuela , Fermina López-Grondona , Paula Fernandez-Alvarez , Chiara Leoni , Christiane Zweier , Andreas Tzschach , Emilia Stellacci , Andrea Del Fattore , Bruno Dallapiccola , Giuseppe Zampino , Marco Tartaglia

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC cancer
Avec: Bernt Popp , Abbas Agaimy , Cornelia Kraus , Karl X Knaup , Arif B Ekici , Steffen Uebe , André Reis , Michael Wiesener , Christiane Zweier

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

European journal of human genetics : EJHG
Avec: Nadine N Hauer , Bernt Popp , Leila Taher , Carina Vogl , Perundurai S Dhandapany , Christian Büttner , Steffen Uebe , Heinrich Sticht , Fulvia Ferrazzi , Arif B Ekici , Alessandro De Luca , Patrizia Klinger , Cornelia Kraus , Christiane Zweier , Antje Wiesener , Rami Abou Jamra , Erdmute Kunstmann , Anita Rauch , Dagmar Wieczorek , Anna-Marie Jung , Tilman R Rohrer , Martin Zenker , Helmuth-Guenther Doerr , André Reis , Christian T Thiel

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics
Avec: Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Benjamin Cogné , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Pascale Saugier-Veber , Anne-Marie Guerrot

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

American journal of human genetics
Avec: Anna Fliedner , Philipp Kirchner , Antje Wiesener , Irma van de Beek , Quinten Waisfisz , Mieke van Haelst , Daryl A Scott , Seema R Lalani , Jill A Rosenfeld , Mahshid S Azamian , Fan Xia , Marina Dutra-Clarke , Julian A Martinez-Agosto , Hane Lee , Auteur inconnu , Grace J Noh , Natalie Lippa , Anna Alkelai , Vimla Aggarwal , Katherine E Agre , Ralitza Gavrilova , Ghayda M Mirzaa , Rachel Straussberg , Rony Cohen , Brooke Horist , Vidya Krishnamurthy , Kirsty McWalter , Jane Juusola , Laura Davis-Keppen , Lisa Ohden , Marjon van Slegtenhorst , Stella A de Man , Arif B Ekici , Anne Gregor , Ingrid van de Laar , Christiane Zweier

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Clinical genetics
Avec: Stephanie Oates , Michael Absoud , Sushma Goyal , Sophie Bayley , Jennifer Baulcomb , Annemarie Sims , Amy Riddett , Katrina Allis , Charlotte Brasch-Andersen , Meena Balasubramanian , Renkui Bai , Bert Callewaert , Ulrike Hüffmeier , Diana Le Duc , Maximilian Radtke , Christian Korff , Joanna Kennedy , Karen Low , Rikke S Møller , Jens Erik Klint Nielsen , Bernt Popp , Lina Quteineh , Gitte Rønde , Bitten Schönewolf-Greulich , Amelle Shillington , Matthew Rg Taylor , Emily Todd , Pernille M Torring , Zeynep Tümer , Georgia Vasileiou , T Michael Yates , Christiane Zweier , Richard Rosch , M Albert Basson , Deb K Pal

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.

Molecular cell
Avec: Sanxiong Liu , Kimberly A Aldinger , Chi Vicky Cheng , Takae Kiyama , Mitali Dave , Hanna K McNamara , Wukui Zhao , James M Stafford , Nicolas Descostes , Pedro Lee , Stefano G Caraffi , Ivan Ivanovski , Edoardo Errichiello , Christiane Zweier , Orsetta Zuffardi , Michael Schneider , Antigone S Papavasiliou , M Scott Perry , Jennifer Humberson , Megan T Cho , Astrid Weber , Andrew Swale , Tudor C Badea , Chai-An Mao , Livia Garavelli , William B Dobyns , Danny Reinberg

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in

The application of clinical genetics
Avec: Bożena Kosztyła-Hojna , Jan Borys , Maciej Zdrojkowski , Emilia Duchnowska , Anna Kraszewska , Daria Wasilewska , Christiane Zweier , Alina Teresa Midro

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.

European journal of medical genetics
Avec: Katalin L M L Hetzelt , Frank Kerling , Cornelia Kraus , Christophe Rauch , Christian T Thiel , Martin Winterholler , André Reis , Christiane Zweier

DLG4-related synaptopathy: a new rare brain disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Christine Coubes , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Bertrand Isidor , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Frederic Tran Mau-Them , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Orphanet journal of rare diseases
Avec: Ulrike Hüffmeier , Cornelia Kraus , Miriam S Reuter , Steffen Uebe , Mary-Alice Abbott , Syed A Ahmed , Kristyn L Rawson , Eileen Barr , Hong Li , Ange-Line Bruel , Laurence Faivre , Frédéric Tran Mau-Them , Christina Botti , Susan Brooks , Kaitlyn Burns , D Isum Ward , Marina Dutra-Clarke , Julian A Martinez-Agosto , Hane Lee , Stanley F Nelson , Auteur inconnu , Pia Zacher , Rami Abou Jamra , Chiara Klöckner , Julie McGaughran , Jürgen Kohlhase , Sarah Schuhmann , Ellen Moran , John Pappas , Annick Raas-Rothschild , Maria J Guillen Sacoto , Lindsay B Henderson , Timothy Blake Palculict , Sureni V Mullegama , Houda Zghal Elloumi , Adi Reich , Samantha A Schrier Vergano , Erica Wahl , André Reis , Christiane Zweier

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.

Clinical genetics
Avec: Melanie Föhrenbach , Rami Abou Jamra , Arndt Borkhardt , Triantafyllia Brozou , Petra Muschke , Bernt Popp , Linda K Rey , Jörg Schaper , Harald Surowy , Martin Zenker , Christiane Zweier , Dagmar Wieczorek , Silke Redler

Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Frontiers in cardiovascular medicine
Avec: Marina Rieder , Paul Kreifels , Judith Stuplich , David Ziupa , Helge Servatius , Luisa Nicolai , Alessandro Castiglione , Christiane Zweier , Babken Asatryan , Katja E Odening

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

American journal of human genetics
Avec: Remzi Karayol , Maria Carla Borroto , Sadegheh Haghshenas , Anoja Namasivayam , Jack Reilly , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Maria Shvedunova , Andrea K Petersen , Kari Magnussen , Christiane Zweier , Georgia Vasileiou , André Reis , Juliann M Savatt , Meghan R Mulligan , Louise S Bicknell , Gemma Poke , Aya Abu-El-Haija , Jessica Duis , Vickie Hannig , Siddharth Srivastava , Elizabeth Barkoudah , Natalie S Hauser , Myrthe van den Born , Uri Hamiel , Noa Henig , Hagit Baris Feldman , Shane McKee , Ingrid P C Krapels , Yunping Lei , Albena Todorova , Ralitsa Yordanova , Slavena Atemin , Mihael Rogac , Vivienne McConnell , Anna Chassevent , Kristin W Barañano , Vandana Shashi , Jennifer A Sullivan , Angela Peron , Maria Iascone , Maria P Canevini , Jennifer Friedman , Iris A Reyes , Janell Kierstein , Joseph J Shen , Faria N Ahmed , Xiao Mao , Berta Almoguera , Fiona Blanco-Kelly , Konrad Platzer , Ariana-Berenike Treu , Juliette Quilichini , Alexia Bourgois , Nicolas Chatron , Louis Januel , Christelle Rougeot , Deanna Alexis Carere , Kristin G Monaghan , Justine Rousseau , Kenneth A Myers , Bekim Sadikovic , Asifa Akhtar , Philippe M Campeau

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

European journal of human genetics : EJHG
Avec: Angela Peron , Felice D'Arco , Kimberly A Aldinger , Constance Smith-Hicks , Christiane Zweier , Gyri A Gradek , Kimberley Bradbury , Andrea Accogli , Erica F Andersen , Ping Yee Billie Au , Roberta Battini , Daniah Beleford , Lynne M Bird , Arjan Bouman , Ange-Line Bruel , Øyvind Løvold Busk , Philippe M Campeau , Valeria Capra , Colleen Carlston , Jenny Carmichael , Anna Chassevent , Jill Clayton-Smith , Michael J Bamshad , Dawn L Earl , Laurence Faivre , Christophe Philippe , Patrick Ferreira , Luitgard Graul-Neumann , Mary J Green , Darrah Haffner , Parthiv Haldipur , Suhair Hanna , Gunnar Houge , Wendy D Jones , Cornelia Kraus , Birgit Elisabeth Kristiansen , James Lespinasse , Karen J Low , Sally Ann Lynch , Sofia Maia , Rong Mao , Ruta Kalinauskiene , Catherine Melver , Kimberly McDonald , Tara Montgomery , Manuela Morleo , Constance Motter , Amanda S Openshaw , Janice Cox Palumbos , Aditi Shah Parikh , Yezmin Perilla-Young , Cynthia M Powell , Richard Person , Megha Desai , Juliette Piard , Rolph Pfundt , Marcello Scala , Margaux Serey-Gaut , Deborah Shears , Anne Slavotinek , Mohnish Suri , Claire Turner , Tatiana Tvrdik , Karin Weiss , Ingrid M Wentzensen , Marcella Zollino , Tzung-Chien Hsieh , Auteur inconnu , Auteur inconnu , Auteur inconnu , Bert B A de Vries , Francois Guillemot , William B Dobyns , David Viskochil , Cristina Dias

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

American journal of medical genetics. Part A
Avec: Themis-Areti A Andreoti , Massimo Maiolo , Aleksandra Tuleja , Yvonne Döring , André Schaller , Erik Vassella , Laurence M Boon , Iris Baumgartner , Sarah M Bernhard , Christiane Zweier , Miikka Vikkula , Jochen Rössler

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.

American journal of medical genetics. Part A
Avec: Melissa Rieger , Mandy Krumbiegel , Miriam S Reuter , Anne Schützenberger , André Reis , Christiane Zweier

Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

Prenatal diagnosis
Avec: Georgia Vasileiou , Juliane Hoyer , Christian T Thiel , Jan Schaefer , Maren Zapke , Mandy Krumbiegel , Cornelia Kraus , Markus Zweier , Steffen Uebe , Arif B Ekici , Michael Schneider , Michael Wiesener , Anita Rauch , Florian Faschingbauer , André Reis , Christiane Zweier , Bernt Popp

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Enrico D H Konrad , Niels Nardini , Almuth Caliebe , Inga Nagel , Dana Young , Gabriella Horvath , Stephanie L Santoro , Christine Shuss , Alban Ziegler , Dominique Bonneau , Marlies Kempers , Rolph Pfundt , Eric Legius , Arjan Bouman , Kyra E Stuurman , Katrin Õunap , Sander Pajusalu , Monica H Wojcik , Georgia Vasileiou , Gwenaël Le Guyader , Hege M Schnelle , Siren Berland , Evelien Zonneveld-Huijssoon , Simone Kersten , Aditi Gupta , Patrick R Blackburn , Marissa S Ellingson , Matthew J Ferber , Radhika Dhamija , Eric W Klee , Meriel McEntagart , Klaske D Lichtenbelt , Amy Kenney , Samantha A Vergano , Rami Abou Jamra , Konrad Platzer , Mary Ella Pierpont , Divya Khattar , Robert J Hopkin , Richard J Martin , Marjolijn C J Jongmans , Vivian Y Chang , Julian A Martinez-Agosto , Outi Kuismin , Mitja I Kurki , Olli Pietiläinen , Aarno Palotie , Timothy J Maarup , Diana S Johnson , Katja Venborg Pedersen , Lone W Laulund , Sally A Lynch , Moira Blyth , Katrina Prescott , Natalie Canham , Rita Ibitoye , Eva H Brilstra , Marwan Shinawi , Emily Fassi , Auteur inconnu , Heinrich Sticht , Anne Gregor , Hilde Van Esch , Christiane Zweier

Intellectual disability and autism spectrum disorders 'on the fly': insights from

Disease models & mechanisms
Avec: Mireia Coll-Tané , Alina Krebbers , Anna Castells-Nobau , Christiane Zweier , Annette Schenck

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine
Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp , Davor Lessel

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Allan Bayat , Sumaiya Iqbal , Kim Borredy , Jeanne Amiel , Christiane Zweier , Guilia Barcia , Cornelia Kraus , Heike Weyhreter , Alexander G Bassuk , Maya Chopra , Guido Rubboli , Rikke S Møller

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting

Journal of medical genetics
Avec: Lottie D Morison , Elisabeth Meffert , Miriam Stampfer , Irene Steiner-Wilke , Brigitte Vollmer , Katrin Schulze , Tracy Briggs , Ruth Braden , Adam Vogel , Daisy Thompson-Lake , Chirag Patel , Edward Blair , Himanshu Goel , Samantha Turner , Ute Moog , Angelika Riess , Frederique Liegeois , David A Koolen , David J Amor , Tjitske Kleefstra , Simon E Fisher , Christiane Zweier , Angela T Morgan

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Franziska Langhammer , Reza Maroofian , Rueda Badar , Anne Gregor , Michelle Rochman , Jeffrey B Ratliff , Marije Koopmans , Theresia Herget , Maja Hempel , Fanny Kortüm , Delphine Heron , Cyril Mignot , Boris Keren , Susan Brooks , Christina Botti , Bruria Ben-Zeev , Emanuela Argilli , Elliot H Sherr , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Somayeh Bakhtiari , Michael C Kruer , Mustafa A Salih , Alma Kuechler , Eric A Muller , Karli Blocker , Outi Kuismin , Kristen L Park , Aaina Kochhar , Kathleen Brown , Subhadra Ramanathan , Robin D Clark , Magdeldin Elgizouli , Gia Melikishvili , Nazhi Tabatadze , Zornitza Stark , Ghayda M Mirzaa , Jinfon Ong , Ute Grasshoff , Andrea Bevot , Lydia von Wintzingerode , Rami A Jamra , Yvonne Hennig , Paula Goldenberg , Chadi Al Alam , Majida Charif , Redouane Boulouiz , Mohammed Bellaoui , Rim Amrani , Fuad Al Mutairi , Abdullah M Tamim , Firdous Abdulwahab , Fowzan S Alkuraya , Ebtissal M Khouj , Javeria R Alvi , Tipu Sultan , Narges Hashemi , Ehsan G Karimiani , Farah Ashrafzadeh , Shima Imannezhad , Stephanie Efthymiou , Henry Houlden , Heinrich Sticht , Christiane Zweier

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Berardo Rinaldi , Allan Bayat , Linda G Zachariassen , Jia-Hui Sun , Yu-Han Ge , Dan Zhao , Kristine Bonde , Laura H Madsen , Ilham Abdimunim Ali Awad , Duygu Bagiran , Amal Sbeih , Syeda Maidah Shah , Shaymaa El-Sayed , Signe M Lyngby , Miriam G Pedersen , Charlotte Stenum-Berg , Louise Claudia Walker , Ilona Krey , Andrée Delahaye-Duriez , Lisa T Emrick , Krystal Sully , Chaya N Murali , Lindsay C Burrage , Julie Ana Plaud Gonzalez , Mered Parnes , Jennifer Friedman , Bertrand Isidor , Jérémie Lefranc , Sylvia Redon , Delphine Heron , Cyril Mignot , Boris Keren , Mélanie Fradin , Christele Dubourg , Sandra Mercier , Thomas Besnard , Benjamin Cogne , Wallid Deb , Clotilde Rivier , Donatella Milani , Maria Francesca Bedeschi , Claudia Di Napoli , Federico Grilli , Paola Marchisio , Suzanna Koudijs , Danielle Veenma , Emanuela Argilli , Sally Ann Lynch , Ping Yee Billie Au , Fernando Eduardo Ayala Valenzuela , Carolyn Brown , Diane Masser-Frye , Marilyn Jones , Leslie Patron Romero , Wenhui Laura Li , Erin Thorpe , Laura Hecher , Jessika Johannsen , Jonas Denecke , Vanda McNiven , Anna Szuto , Emma Wakeling , Vincent Cruz , Valerie Sency , Heng Wang , Juliette Piard , Fanny Kortüm , Theresia Herget , Tatjana Bierhals , Angelo Condell , Bruria Ben Zeev , Simranpreet Kaur , John Christodoulou , Amelie Piton , Christiane Zweier , Cornelia Kraus , Alessia Micalizzi , Marina Trivisano , Nicola Specchio , Gaetan Lesca , Rikke S Møller , Zeynep Tümer , Maria Musgaard , Benedicte Gerard , Johannes R Lemke , Yun Stone Shi , Anders S Kristensen

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

Journal of neuromuscular diseases
Avec: Cornelia Enzmann , Leonie Steiner , Katarzyna Pospieszny , Christiane Zweier , Kevin Plattner , Dominique Baumann , Bettina Henzi , Elea Galiart , Mirjam Fink , David Jacquier , Georg M Stettner , Paolo Ripellino , Joel Fluss , Andrea Klein , Auteur inconnu

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Maria J Nabais Sá , Hanka Venselaar , Laurens Wiel , Aurélien Trimouille , Eulalie Lasseaux , Sophie Naudion , Didier Lacombe , Amélie Piton , Catherine Vincent-Delorme , Christiane Zweier , André Reis , Regina Trollmann , Anna Ruiz , Elisabeth Gabau , Annalisa Vetro , Renzo Guerrini , Somayeh Bakhtiari , Michael C Kruer , David J Amor , Monica S Cooper , Emilia K Bijlsma , Tahsin Stefan Barakat , Marieke F van Dooren , Marjon van Slegtenhorst , Rolph Pfundt , Christian Gilissen , Michèl A Willemsen , Bert B A de Vries , Arjan P M de Brouwer , David A Koolen

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.

American journal of medical genetics. Part A
Avec: Burkhard S Kasper , Cornelia Kraus , Michael Schwarz , Julie Rösch , Christian T Thiel , André Reis , Christiane Zweier

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal of medical genetics
Avec: Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia Passeggeri , Frank Kooy , Jacques Puechberty , Carolyn Campbell , Damien Sanlaville , Henrietta Lefroy , Sonia Richetin , Aurelie Pain , David Geneviève , Usha Kini , Cédric Le Caignec , James Lespinasse , Anne-Bine Skytte , Bertrand Isidor , Christiane Zweier , Jean-Hubert Caberg , Marie-Ange Delrue , Rikke Steensbjerre Møller , Anders Bojesen , Helle Hjalgrim , Charlotte Brasch-Andersen , Emmanuelle Lemyre , Lilian Bomme Ousager , Sébastien Jacquemont , Auteur inconnu

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ghayda M Mirzaa , Jessica X Chong , Amélie Piton , Bernt Popp , Kimberly Foss , Hui Guo , Ricardo Harripaul , Kun Xia , Joshua Scheck , Kimberly A Aldinger , Samin A Sajan , Sha Tang , Dominique Bonneau , Anita Beck , Janson White , Sonal Mahida , Jacqueline Harris , Constance Smith-Hicks , Juliane Hoyer , Christiane Zweier , André Reis , Christian T Thiel , Rami Abou Jamra , Natasha Zeid , Amy Yang , Laura S Farach , Laurence Walsh , Katelyn Payne , Luis Rohena , Milen Velinov , Alban Ziegler , Elise Schaefer , Vincent Gatinois , David Geneviève , Marleen E H Simon , Jennefer Kohler , Joshua Rotenberg , Patricia Wheeler , Austin Larson , Michelle E Ernst , Cigdem I Akman , Rachel Westman , Patricia Blanchet , Lori-Anne Schillaci , Catherine Vincent-Delorme , Karen W Gripp , Francesca Mattioli , Gwenaël Le Guyader , Bénédicte Gerard , Michèle Mathieu-Dramard , Gilles Morin , Roksana Sasanfar , Muhammad Ayub , Nasim Vasli , Sandra Yang , Rick Person , Kristin G Monaghan , Deborah A Nickerson , Ellen van Binsbergen , Gregory M Enns , Annika M Dries , Leah J Rowe , Anne C H Tsai , Shayna Svihovec , Jennifer Friedman , Zehra Agha , Raheel Qamar , Lance H Rodan , Julian Martinez-Agosto , Charlotte W Ockeloen , Marie Vincent , William James Sunderland , Jonathan A Bernstein , Auteur inconnu , Evan E Eichler , John B Vincent , Auteur inconnu , Michael J Bamshad

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.

Biological psychiatry
Avec: Michaela Fenckova , Laura E R Blok , Lenke Asztalos , David P Goodman , Pavel Cizek , Euginia L Singgih , Jeffrey C Glennon , Joanna IntHout , Christiane Zweier , Evan E Eichler , Catherine R von Reyn , Raphael A Bernier , Zoltan Asztalos , Annette Schenck

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.

Acta neuropathologica
Avec: Malte Hellwig , Marlen C Lauffer , Michael Bockmayr , Michael Spohn , Daniel J Merk , Luke Harrison , Julia Ahlfeld , Annabel Kitowski , Julia E Neumann , Jasmin Ohli , Dörthe Holdhof , Judith Niesen , Melanie Schoof , Marcel Kool , Cornelia Kraus , Christiane Zweier , Dan Holmberg , Ulrich Schüller

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: D L Polla , E J Bhoj , J B G M Verheij , J S Klein Wassink-Ruiter , A Reis , C Deshpande , A Gregor , K Hill-Karfe , A T Vulto-van Silfhout , R Pfundt , E M H F Bongers , H Hakonarson , S Berland , G Gradek , S Banka , K Chandler , L Gompertz , S C Huffels , C T R M Stumpel , R Wennekes , A P A Stegmann , W Reardon , E K S M Leenders , B B A de Vries , D Li , E Zackai , N Ragge , S A Lynch , S Cuddapah , H van Bokhoven , C Zweier , A P M de Brouwer

Réseau de co-auteurs

André Reis 20 collaborations
Cornelia Kraus 17 collaborations
None None 16 collaborations
Bernt Popp 13 collaborations
Laurence Faivre 10 collaborations
Heinrich Sticht 9 collaborations
Anne Gregor 9 collaborations
Arif B Ekici 8 collaborations
Boris Keren 8 collaborations
Antonio Vitobello 7 collaborations
Christian T Thiel 7 collaborations
Georgia Vasileiou 7 collaborations
Antje Wiesener 6 collaborations
Bertrand Isidor 6 collaborations
Steffen Uebe 6 collaborations
Cyril Mignot 6 collaborations
Rolph Pfundt 6 collaborations
Anita Rauch 5 collaborations
Amélie Piton 5 collaborations
Benjamin Cogné 5 collaborations
Rami Abou Jamra 5 collaborations
Tatjana Bierhals 5 collaborations
Anna Fliedner 4 collaborations
Ana S A Cohen 4 collaborations
Tjitske Kleefstra 4 collaborations
Frederic Tran Mau-Them 4 collaborations
Gaetan Lesca 4 collaborations
Frédéric Tran Mau-Them 4 collaborations
Julien Thevenon 4 collaborations
Eva H Brilstra 4 collaborations
William B Dobyns 4 collaborations
Kirsty McWalter 4 collaborations
Jennifer Friedman 4 collaborations
Alexandra Afenjar 4 collaborations
Ghayda M Mirzaa 4 collaborations
Juliette Piard 4 collaborations
Konrad Platzer 4 collaborations
Ellen van Binsbergen 4 collaborations
Caroline Nava 4 collaborations
Julian A Martinez-Agosto 4 collaborations
Kimberly A Aldinger 4 collaborations
Ange-Line Bruel 4 collaborations
Philippe M Campeau 4 collaborations
Siren Berland 3 collaborations
Markus Zweier 3 collaborations
Wendy K Chung 3 collaborations
Emilia K Bijlsma 3 collaborations
David A Sweetser 3 collaborations
Regina Trollmann 3 collaborations
Gunnar Houge 3 collaborations
Jill Clayton-Smith 3 collaborations
Maria Iascone 3 collaborations
Nicolas Chatron 3 collaborations
Raymond Lewandowski 3 collaborations
Luitgard Graul-Neumann 3 collaborations
Davor Lessel 3 collaborations
Thomas Smol 3 collaborations
Marwan Shinawi 3 collaborations
Anne Slavotinek 3 collaborations
Katalin L M L Hetzelt 3 collaborations
Jonas Denecke 3 collaborations
Delphine Heron 3 collaborations
Diana Rodriguez 3 collaborations
Fulvia Ferrazzi 3 collaborations
Frank Kooy 3 collaborations
Marije Meuwissen 3 collaborations
Eric W Klee 3 collaborations
Sarah Schuhmann 3 collaborations
Bert Callewaert 3 collaborations
Charlotte Brasch-Andersen 3 collaborations
Koen L I van Gassen 3 collaborations
Evan E Eichler 3 collaborations
Sally Ann Lynch 3 collaborations
Arjan Bouman 3 collaborations
Mandy Krumbiegel 3 collaborations
Stéphane Bézieau 3 collaborations
Jessica Douglas 3 collaborations
Dagmar Wieczorek 3 collaborations
A Micheil Innes 3 collaborations
Alban Ziegler 3 collaborations
Dominique Bonneau 3 collaborations
Rikke S Møller 3 collaborations
Zeynep Tümer 3 collaborations
Maja Hempel 3 collaborations
Theresia Herget 3 collaborations
Gwenaël Le Guyader 3 collaborations
Juliane Hoyer 3 collaborations
Bert B A de Vries 3 collaborations
Justine Rousseau 3 collaborations
Ingrid M Wentzensen 3 collaborations
Alexander P A Stegmann 3 collaborations
Simon E Fisher 3 collaborations
Marije Koopmans 3 collaborations
Aaina Kochhar 3 collaborations
Hanka Venselaar 3 collaborations
Patricia Wheeler 3 collaborations
Lance H Rodan 3 collaborations
Katharina Steindl 2 collaborations
André Schaller 2 collaborations
Julie Kaplan 2 collaborations
Carol J Saunders 2 collaborations
Anne O'Donnell-Luria 2 collaborations
Timothy Blake Palculict 2 collaborations
Sadegheh Haghshenas 2 collaborations
Raissa Relator 2 collaborations
Michael A Levy 2 collaborations
Jan Fischer 2 collaborations
Mieke M van Haelst 2 collaborations
Bekim Sadikovic 2 collaborations
Andre Reis 2 collaborations
Sandra Yang 2 collaborations
Anna Cereda 2 collaborations
Christelle Rougeot 2 collaborations
Damien Sanlaville 2 collaborations
Anna Lehman 2 collaborations
Robert Stratton 2 collaborations
Dawn L Earl 2 collaborations
John Christodoulou 2 collaborations
Megan T Cho 2 collaborations
Jeanne Amiel 2 collaborations
Sophie Naudion 2 collaborations
Thierry Bienvenu 2 collaborations
Mathilde Nizon 2 collaborations
Alain Verloes 2 collaborations
Arthur Sorlin 2 collaborations
Christophe Philippe 2 collaborations
Roberta Battini 2 collaborations
Thierry Billette de Villemeur 2 collaborations
Nikita R Dsouza 2 collaborations
Thomas D Challman 2 collaborations
Aurélien Trimouille 2 collaborations
Eulalie Lasseaux 2 collaborations
Didier Lacombe 2 collaborations
Anna Ruiz 2 collaborations
Alice Goldenberg 2 collaborations
Gabriella Vera 2 collaborations
Jacques L Michaud 2 collaborations
Kimberly Foss 2 collaborations
Benjamin Durand 2 collaborations
Erin Torti 2 collaborations
Michael T Zimmermann 2 collaborations
Amelie Piton 2 collaborations
Benedicte Gerard 2 collaborations
Tianyun Wang 2 collaborations
Hui Guo 2 collaborations
Malin Kvarnung 2 collaborations
Anna Lindstrand 2 collaborations
Ann Nordgren 2 collaborations
Siddharth Srivastava 2 collaborations
Lynne M Bird 2 collaborations
Florence Petit 2 collaborations
Mary Kukolich 2 collaborations
Candace Muss 2 collaborations
John Pappas 2 collaborations
Marleen E H Simon 2 collaborations
Marie Bournez 2 collaborations
Kun Xia 2 collaborations
Raphael A Bernier 2 collaborations
Johannes R Lemke 2 collaborations
Alma Kuechler 2 collaborations
Maria Palomares-Bralo 2 collaborations
Usha Kini 2 collaborations
Tobias B Haack 2 collaborations
Martin Winterholler 2 collaborations
Frank Kerling 2 collaborations
Christophe Rauch 2 collaborations
Irina Giurgea 2 collaborations
Berta Almoguera 2 collaborations
Wallid Deb 2 collaborations
François Lecoquierre 2 collaborations
Gaël Nicolas 2 collaborations
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