Darja Gauck

Affiliations

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.

Publications (5)

Bi-allelic loss-of-function variants in

Journal of medical genetics

Avec: Ruth J Falb , Amelie J Müller , Wolfram Klein , Mona Grimmel , Ute Grasshoff , Stephanie Spranger , Petra Stöbe , Darja Gauck , Alma Kuechler , Nicola Dikow , Eva M C Schwaibold , Christoph Schmidt , Luisa Averdunk , Rebecca Buchert , Tilman Heinrich , Natalia Prodan , Joohyun Park , Martin Kehrer , Marc Sturm , Olga Kelemen , Silke Hartmann , Denise Horn , Dirk Emmerich , Nina Hirt , Armin Neumann , Glen Kristiansen , Ulrich Gembruch , Susanne Haen , Reiner Siebert , Sabine Hentze , Markus Hoopmann , Stephan Ossowski , Stephan Waldmüller , Stefanie Beck-Wödl , Dieter Gläser , Ismail Tekesin , Felix Distelmaier , Olaf Riess , Karl-Oliver Kagan , Andreas Dufke , Tobias B Haack

Expanded phenotype of AARS1-related white matter disease.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Guy Helman , Marisa I Mendes , Francesco Nicita , Lama Darbelli , Omar Sherbini , Travis Moore , Alexa Derksen , Amy Pizzino , Rosalba Carrozzo , Alessandra Torraco , Michela Catteruccia , Chiara Aiello , Paola Goffrini , Sonia Figuccia , Desiree E C Smith , Kinga Hadzsiev , Andreas Hahn , Saskia Biskup , Ines Brösse , Urania Kotzaeridou , Darja Gauck , Theresa A Grebe , Frances Elmslie , Karen Stals , Rajat Gupta , Enrico Bertini , Isabelle Thiffault , Ryan J Taft , Raphael Schiffmann , Ulrich Brandl , Tobias B Haack , Gajja S Salomons , Cas Simons , Geneviève Bernard , Marjo S van der Knaap , Adeline Vanderver , Ralf A Husain

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.

Neuropediatrics

Avec: Luisa Averdunk , Sandra Donkervoort , Denise Horn , Stephan Waldmüller , Safoora Syeda , Sarah B Neuhaus , Katherine R Chao , Anne van Riesen , Darja Gauck , Tobias Haack , Anna S Japp , Unaa Lee , Carsten G Bönnemann , Ertan Mayatepek , Felix Distelmaier

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Journal of medical genetics

Avec: Lucia Laugwitz , Annette Seibt , Diran Herebian , Susana Peralta , Imke Kienzle , Rebecca Buchert , Ruth Falb , Darja Gauck , Amelie Müller , Mona Grimmel , Stefanie Beck-Woedel , Jan Kern , Karim Daliri , Pegah Katibeh , Katharina Danhauser , Steffen Leiz , Viola Alesi , Fabian Baertling , Gessica Vasco , Robert Steinfeld , Matias Wagner , Ahmet Okay Caglayan , Hakan Gumus , Margit Burmeister , Ertan Mayatepek , Diego Martinelli , Parag Mohan Tamhankar , Vasundhara Tamhankar , Pascal Joset , Katharina Steindl , Anita Rauch , Penelope E Bonnen , Tawfiq Froukh , Samuel Groeschel , Ingeborg Krägeloh-Mann , Tobias B Haack , Felix Distelmaier

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Prenatal diagnosis

Avec: Andreas Dufke , Markus Hoopmann , Stephan Waldmüller , Natalia Carmen Prodan , Stefanie Beck-Wödl , Ute Grasshoff , Tilman Heinrich , Angelika Riess , Martin Kehrer , Ruth J Falb , Alexandra Liebmann , Cristiana Roggia , Miriam Stampfer , Malou Schadeck , Amelie J Müller , Mona Grimmel , Petra Stöbe , Darja Gauck , Rebecca Buchert-Lo , Sarah Baumann , Karin Schäferhoff , Miriam Bertrand , Benita Menden , Marc Sturm , Leon Schütz , Olaf Riess , Stephan Ossowski , Tobias B Haack , Karl Oliver Kagan

Réseau de co-auteurs

Tobias B Haack 4 collaborations

Mona Grimmel 3 collaborations

Stephan Waldmüller 3 collaborations

Felix Distelmaier 3 collaborations

Ruth J Falb 2 collaborations

Amelie J Müller 2 collaborations

Ute Grasshoff 2 collaborations

Petra Stöbe 2 collaborations

Luisa Averdunk 2 collaborations

Rebecca Buchert 2 collaborations

Tilman Heinrich 2 collaborations

Martin Kehrer 2 collaborations

Marc Sturm 2 collaborations

Denise Horn 2 collaborations

Markus Hoopmann 2 collaborations

Stephan Ossowski 2 collaborations

Stefanie Beck-Wödl 2 collaborations

Olaf Riess 2 collaborations

Andreas Dufke 2 collaborations

Ertan Mayatepek 2 collaborations

Wolfram Klein 1 collaboration

Stephanie Spranger 1 collaboration

Alma Kuechler 1 collaboration

Nicola Dikow 1 collaboration

Eva M C Schwaibold 1 collaboration

Christoph Schmidt 1 collaboration

Natalia Prodan 1 collaboration

Joohyun Park 1 collaboration

Olga Kelemen 1 collaboration

Silke Hartmann 1 collaboration

Dirk Emmerich 1 collaboration

Nina Hirt 1 collaboration

Armin Neumann 1 collaboration

Glen Kristiansen 1 collaboration

Ulrich Gembruch 1 collaboration

Susanne Haen 1 collaboration

Reiner Siebert 1 collaboration

Sabine Hentze 1 collaboration

Dieter Gläser 1 collaboration

Ismail Tekesin 1 collaboration

Karl-Oliver Kagan 1 collaboration

Guy Helman 1 collaboration

Marisa I Mendes 1 collaboration

Francesco Nicita 1 collaboration

Lama Darbelli 1 collaboration

Omar Sherbini 1 collaboration

Travis Moore 1 collaboration

Alexa Derksen 1 collaboration

None Amy Pizzino 1 collaboration

Rosalba Carrozzo 1 collaboration

Alessandra Torraco 1 collaboration

Michela Catteruccia 1 collaboration

Chiara Aiello 1 collaboration

Paola Goffrini 1 collaboration

Sonia Figuccia 1 collaboration

Desiree E C Smith 1 collaboration

Kinga Hadzsiev 1 collaboration

Andreas Hahn 1 collaboration

Saskia Biskup 1 collaboration

Ines Brösse 1 collaboration

Urania Kotzaeridou 1 collaboration

Theresa A Grebe 1 collaboration

Frances Elmslie 1 collaboration

Karen Stals 1 collaboration

Rajat Gupta 1 collaboration

Enrico Bertini 1 collaboration

Isabelle Thiffault 1 collaboration

Ryan J Taft 1 collaboration

Raphael Schiffmann 1 collaboration

Ulrich Brandl 1 collaboration

Gajja S Salomons 1 collaboration

Cas Simons 1 collaboration

Geneviève Bernard 1 collaboration

Marjo S van der Knaap 1 collaboration

Adeline Vanderver 1 collaboration

Ralf A Husain 1 collaboration

Sandra Donkervoort 1 collaboration

Safoora Syeda 1 collaboration

Sarah B Neuhaus 1 collaboration

Katherine R Chao 1 collaboration

Anne van Riesen 1 collaboration

Tobias Haack 1 collaboration

Anna S Japp 1 collaboration

Unaa Lee 1 collaboration

Carsten G Bönnemann 1 collaboration

Lucia Laugwitz 1 collaboration

Annette Seibt 1 collaboration

Diran Herebian 1 collaboration

Susana Peralta 1 collaboration

Imke Kienzle 1 collaboration

Ruth Falb 1 collaboration

Amelie Müller 1 collaboration

Stefanie Beck-Woedel 1 collaboration

Jan Kern 1 collaboration

Karim Daliri 1 collaboration

Pegah Katibeh 1 collaboration

Katharina Danhauser 1 collaboration

Steffen Leiz 1 collaboration

Viola Alesi 1 collaboration

Fabian Baertling 1 collaboration

Gessica Vasco 1 collaboration

Robert Steinfeld 1 collaboration

Matias Wagner 1 collaboration

Ahmet Okay Caglayan 1 collaboration

Hakan Gumus 1 collaboration

Margit Burmeister 1 collaboration

Diego Martinelli 1 collaboration

Parag Mohan Tamhankar 1 collaboration

Vasundhara Tamhankar 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Penelope E Bonnen 1 collaboration

Tawfiq Froukh 1 collaboration

Samuel Groeschel 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Natalia Carmen Prodan 1 collaboration

Angelika Riess 1 collaboration

Alexandra Liebmann 1 collaboration

Cristiana Roggia 1 collaboration

Miriam Stampfer 1 collaboration

Malou Schadeck 1 collaboration

Rebecca Buchert-Lo 1 collaboration

Sarah Baumann 1 collaboration

Karin Schäferhoff 1 collaboration

Miriam Bertrand 1 collaboration

Benita Menden 1 collaboration

Leon Schütz 1 collaboration

Karl Oliver Kagan 1 collaboration