Anita Rauch

基本信息

Career Trajectory

Bio

The research topics of the Rauch Group are mainly focussed on developmental disorders.

Skills and Expertise:
Genetics
Molecular Genetics
Genetic Analysis
DNA Sequencing
Human Genetics
Human Molecular Genetics
Medical Genetics
Clinical Genetics
Next Generation Sequencing
Molecular Diagnostics

Research Interests

Papers共 405 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

Clara Houdayer,Kathleen Rooney,Liselot van der Laan,Céline Bris,Mariëlle Alders,Angela Bahr,Giulia Barcia, Clarisse Battault,Anais Begemann,Dominique Bonneau,Antoine Bonnevalle,Aicha Boughalem, Alice Bourges,Marie Bournez,Ange-Line Bruel, Daniela Buhas, Floriane Carallis,Benjamin Cogné,Valérie Cormier-Daire,Julian Delanne, Tanguy Demaret,Anne-Sophie Denommé-Pichon,Julie Désir,Christèle Dubourg,Mélanie Fradin,David Geneviève,Himanshu Goel,Alice Goldenberg,Karen W Gripp,Agnès Guichet,Anne Guimier,Adeline Jacquinet,Boris Keren, Louis Legoff,Michael A Levy,Haley McConkey,Bryce A Mendelsohn,Cyril Mignot, Vincent Milon,Mathilde Nizon,Beatrice Oneda,Laurent Pasquier,Olivier Patat,Christophe Philippe,Vincent Procaccio,Rebecca Procopio,Clément Prouteau, Thomas Rambaud,Anita Rauch,Raissa Relator,Sophie Rondeau,Gijs W E Santen,Jennifer Schleit,Arthur Sorlin,Katharina Steindl, Matt Tedder,Marine Tessarech,Frédéric Tran Mau-Them,Detlef Trost,Pleuntje J Van der Sluijs,Marie Vincent,Sandra Whalen,Christel Thauvin-Robinet,Bertrand Isidor,Bekim Sadikovic,Antonio Vitobello,Estelle Colin

European journal of human genetics EJHG (2025)

Cited0Views0WOSNATUREBibtex

Biallelic Variants in GTF3C3 Result in an Autosomal Recessive Disorder with Intellectual Disability

Lachlan De Hayr,Laura E. R. Blok,Kerith-Rae Dias,Jingyi Long,Anais Begemann,Robyn D. Moir,Ian M. Willis, Martina Mocera,Gabriele Siegel, Katharina Steindl,Carey-Anne Evans,Ying Zhu, Futao Zhang,Michael Field,Alan Ma,Lesley Ades,Sarah Josephi-Taylor,Rolph Pfundt,Maha S. Zaki,Hoda Tomoum,Anne Gregor, Julia Laube,Andre Reis,Sateesh Maddirevula,Mais O. Hashem,Markus Zweier,Fowzan S. Alkuraya,Reza Maroofian, Michael F. Buckley,Joseph G. Gleeson,Christiane Zweier,Mireia Coll-Tane,David A. Koolen,Anita Rauch,Tony Roscioli,Annette Schenck, Robert J. Harvey

GENETICS IN MEDICINEno. 1 (2025)

Cited0Views0WOSBibtex

Konstantinos Kolokotronis, Aude-Annick Suter,Ivan Ivanovski,Tanja Frey,Angela Bahr,Anita Rauch,Katharina Steindl

European Journal of Medical Geneticspp.104945-104945, (2024)

Cited0Views0WOSBibtex

Deleterious ZNRF3 Germline Variants Cause Neurodevelopmental Disorders with Mirror Brain Phenotypes Via Domain-Specific Effects on Wnt/(3-catenin Signaling

AMERICAN JOURNAL OF HUMAN GENETICSno. 9 (2024)

Cited0Views0Bibtex

Brothers in Arms? - Somatic HRAS and Germline RAF1 Mutation As Potential Cooperative Events Underlying Urothelial Carcinoma in a RASopathy Patient

Dennis Kraemer,Silvia Azzarello-Burri, Aude-Annick Suter,Alessandra Baumer,Anita Rauch

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 542-543

Cited0Views0Bibtex

Obituary John M. Opitz, Born in Hamburg on 15th August 1935, Died on 31st October 2023 in Salt Lake City, Utah, USA

Anita Rauch,Andre Reis

MEDIZINISCHE GENETIKno. 4 (2024): 275-276

Cited0Views0Bibtex

De Novo Variants in ATXN7L3 Lead to Developmental Delay, Hypotonia and Distinctive Facial Features

Tamar Harel, Camille Spicher,Elisabeth Scheer,Jillian G. Buchan, Jennifer Cech,Chiara Folland,Tanja Frey,Alexander M. Holtz,A. Micheil Innes,Boris Keren,William L. Macken,Carlo Marcelis,Catherine E. Otten, Sarah A. Paolucci,Florence Petit,Rolph Pfundt,Robert D. S. Pitceathly,Anita Rauch,Gianina Ravenscroft, Rani Sanchev,Katharina Steindl,Femke Tammer,Amanda Tyndall,Didier Devys,Stephane D. Vincent,Orly Elpeleg,Laszlo Tora

BRAINno. 8 (2024): 2732-2744

Cited0Views0WOSBibtex

Further Delineation of the SCAF4-associated Neurodevelopmental Disorder

Cosima M. Schmid,Anne Gregor,Anna Ruiz, Carmen Manso Bazus,Isabella Herman, Farah Ammouri,Urania Kotzaeridou,Vanda Mcniven,Lucie Dupuis,Katharina Steindl,Anais Begemann,Anita Rauch, Aude-Annick Suter,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Benjamin Cogne,Wallid Deb,Thomas Besnard,Tobias B. Haack,Ruth J. Falb,Amelie J. Mueller,Tobias Linden,Chad R. Haldeman-Englert,Charlotte W. Ockeloen,Francesca Mattioli,Alexandre Reymond,Nazia Ibrahim,Shagufta Naz,Elodie Lacaze,Jennifer A. Bassetti,Julia Hoefele,Theresa Brunet,Korbinian M. Riedhammer, Houda Z. Elloumi,Richard Person,Fanggeng Zou, Juliette J. Kahle,Kirsten Cremer,Axel Schmidt,Marie-Ange Delrue,Pedro M. Almeida,Fabiana Ramos,Siddharth Srivastava, Aisling Quinlan,Stephen Robertson,Eva Manka,Alma Kuechler,Stephanie Spranger,Malgorzata J. M. Nowaczyk,Reem M. Elshafie,Hind Alsharhan, Paul R. Hillman, Leslie A. Dunnington,Hilde M. H. Braakman,Shane Mckee, Angelica Moresco, Andrea-Diana Ignat,Ruth Newbury-Ecob,Guillaume Banneau,Olivier Patat, Jeffrey Kuerbitz, Susan Rzucidlo, Susan S. Sell,Patricia Gordon,Sarah Schuhmann,Andre Reis, Yosra Halleb,Radka Stoeva,Boris Keren,Zainab Al Masseri,Zeynep Tuemer,Sophia Hammer-Hansen, Sofus Krueger Solyst, Connolly G. Steigerwald,Nicolas J. Abreu, Helene Faust, Amica Mueller-Nedebock,Frederic Tran Mau-Them,Heinrich Sticht,Christiane Zweier

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

Cited0Views0WOSNATUREBibtex

Further Evidence That the Neurodevelopmental Gene FBXW7 Predisposes to Wilms Tumor

Fabienne Meier-Abt,Dennis Kraemer, Nils Braun,Michael Reinehr, Eveline Stutz-Grunder,Katharina Steindl,Anita Rauch

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 6 (2024)

Cited0Views0WOSBibtex

SNUPN Deficiency Causes a Recessive Muscular Dystrophy Due to RNA Mis-Splicing and ECM Dysregulation

Marwan Nashabat,Nasrinsadat Nabavizadeh,Hilal Pırıl Saraçoğlu,Burak Sarıbaş,Şahin Avcı,Esra Börklü,Emmanuel Beillard,Elanur Yılmaz, Seyide Ecesu Uygur,Cavit Kerem Kayhan,Luca Bosco, Zeynep Bengi Eren,Katharina Steindl,Manuela Friederike Richter,Guney Bademci,Anita Rauch,Zohreh Fattahi,Maria Lucia Valentino,Anne M. Connolly,Angela Bahr, Laura Viola,Anke Katharina Bergmann,Maria Eugenia Rocha,LeShon Peart, Derly Liseth Castro-Rojas,Eva Bültmann,Suliman Khan, Miriam Liliana Giarrana,Raluca Ioana Teleanu,Joanna Michelle Gonzalez,Antonella Pini,Ines Sophie Schädlich,Katharina Vill,Melanie Brugger,Stephan Zuchner,Andreia Pinto,Sandra Donkervoort,Stephanie Ann Bivona,Anca Riza,Ioana Streata,Dieter Gläser,Carolina Baquero-Montoya, Natalia Garcia-Restrepo,Urania Kotzaeridou,Theresa Brunet,Diana Anamaria Epure,Aida Bertoli-Avella,Ariana Kariminejad,Mustafa Tekin,Sandra von Hardenberg,Carsten G. Bönnemann,Georg M. Stettner,Ginevra Zanni,Hülya Kayserili,Zehra Piraye Oflazer,Nathalie Escande-Beillard

NATURE COMMUNICATIONS（2024）

Cited3Views0WOSNATUREBibtex

Author Statistics

Co-Author

Co-Institution

D-Core

合作者
学生
导师

No result temporarily, you can search similar Scholar with the same research interest

Data Disclaimer

The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn

Professor

Papers共 405 篇Author StatisticsCo-AuthorSimilar Experts