Johannes Luppe

Affiliations

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publications (4)

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

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

Avec: Yuri A Zarate , Tomoko Uehara , Kota Abe , Masayuki Oginuma , Sora Harako , Shizuka Ishitani , Anna-Elina Lehesjoki , Tatjana Bierhals , Katja Kloth , Nadja Ehmke , Denise Horn , Manuel Holtgrewe , Katherine Anderson , David Viskochil , Courtney L Edgar-Zarate , Maria J Guillen Sacoto , Rhonda E Schnur , Michelle M Morrow , Amarilis Sanchez-Valle , John Pappas , Rachel Rabin , Mikko Muona , Anna-Kaisa Anttonen , Konrad Platzer , Johannes Luppe , Janina Gburek-Augustat , Tadashi Kaname , Nobuhiko Okamoto , Seiji Mizuno , Yusaku Kaido , Yoshiaki Ohkuma , Yutaka Hirose , Tohru Ishitani , Kenjiro Kosaki

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

American journal of human genetics

Avec: Anna R Duncan , Maya M Polovitskaya , Héctor Gaitán-Peñas , Sara Bertelli , Grace E VanNoy , Patricia E Grant , Anne O'Donnell-Luria , Zaheer Valivullah , Alysia Kern Lovgren , Elaina M England , Emanuele Agolini , Jill A Madden , Klaus Schmitz-Abe , Amy Kritzer , Pamela Hawley , Antonio Novelli , Paolo Alfieri , Giovanna Stefania Colafati , Dagmar Wieczorek , Konrad Platzer , Johannes Luppe , Margarete Koch-Hogrebe , Rami Abou Jamra , Juanita Neira-Fresneda , Anna Lehman , Cornelius F Boerkoel , Kimberly Seath , Lorne Clarke , Auteur inconnu , Yvette van Ierland , Emanuela Argilli , Elliott H Sherr , Andrea Maiorana , Thilo Diel , Maja Hempel , Tatjana Bierhals , Raúl Estévez , Thomas J Jentsch , Michael Pusch , Pankaj B Agrawal

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

Human mutation

Avec: Nina Bögershausen , Hannah E Krawczyk , Rami A Jamra , Sheng-Jia Lin , Gökhan Yigit , Irina Hüning , Anna M Polo , Barbara Vona , Kevin Huang , Julia Schmidt , Janine Altmüller , Johannes Luppe , Konrad Platzer , Beate B Dörgeloh , Andreas Busche , Saskia Biskup , Marisa I Mendes , Desiree E C Smith , Gajja S Salomons , Arne Zibat , Eva Bültmann , Peter Nürnberg , Malte Spielmann , Johannes R Lemke , Yun Li , Martin Zenker , Gaurav K Varshney , Hauke S Hillen , Christian P Kratz , Bernd Wollnik

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

European journal of human genetics : EJHG

Avec: Johannes Luppe , Heinrich Sticht , François Lecoquierre , Alice Goldenberg , Kathleen M Gorman , Ben Molloy , Emanuele Agolini , Antonio Novelli , Silvana Briuglia , Outi Kuismin , Carlo Marcelis , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Sophie Julia , Johannes R Lemke , Rami Abou Jamra , Konrad Platzer

Réseau de co-auteurs

Konrad Platzer 4 collaborations

Tatjana Bierhals 2 collaborations

Emanuele Agolini 2 collaborations

Antonio Novelli 2 collaborations

Rami Abou Jamra 2 collaborations

Johannes R Lemke 2 collaborations

Yuri A Zarate 1 collaboration

Tomoko Uehara 1 collaboration

Kota Abe 1 collaboration

Masayuki Oginuma 1 collaboration

Sora Harako 1 collaboration

Shizuka Ishitani 1 collaboration

Anna-Elina Lehesjoki 1 collaboration

Katja Kloth 1 collaboration

Nadja Ehmke 1 collaboration

Denise Horn 1 collaboration

Manuel Holtgrewe 1 collaboration

Katherine Anderson 1 collaboration

David Viskochil 1 collaboration

Courtney L Edgar-Zarate 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Rhonda E Schnur 1 collaboration

Michelle M Morrow 1 collaboration

Amarilis Sanchez-Valle 1 collaboration

John Pappas 1 collaboration

Rachel Rabin 1 collaboration

Mikko Muona 1 collaboration

Anna-Kaisa Anttonen 1 collaboration

Janina Gburek-Augustat 1 collaboration

Tadashi Kaname 1 collaboration

Nobuhiko Okamoto 1 collaboration

Seiji Mizuno 1 collaboration

Yusaku Kaido 1 collaboration

Yoshiaki Ohkuma 1 collaboration

Yutaka Hirose 1 collaboration

Tohru Ishitani 1 collaboration

Kenjiro Kosaki 1 collaboration

Anna R Duncan 1 collaboration

Maya M Polovitskaya 1 collaboration

Héctor Gaitán-Peñas 1 collaboration

Sara Bertelli 1 collaboration

Grace E VanNoy 1 collaboration

Patricia E Grant 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Zaheer Valivullah 1 collaboration

Alysia Kern Lovgren 1 collaboration

Elaina M England 1 collaboration

Jill A Madden 1 collaboration

Klaus Schmitz-Abe 1 collaboration

Amy Kritzer 1 collaboration

Pamela Hawley 1 collaboration

Paolo Alfieri 1 collaboration

Giovanna Stefania Colafati 1 collaboration

Dagmar Wieczorek 1 collaboration

Margarete Koch-Hogrebe 1 collaboration

Juanita Neira-Fresneda 1 collaboration

Anna Lehman 1 collaboration

Cornelius F Boerkoel 1 collaboration

Kimberly Seath 1 collaboration

Lorne Clarke 1 collaboration

None None 1 collaboration

Yvette van Ierland 1 collaboration

Emanuela Argilli 1 collaboration

Elliott H Sherr 1 collaboration

Andrea Maiorana 1 collaboration

Thilo Diel 1 collaboration

Maja Hempel 1 collaboration

Raúl Estévez 1 collaboration

Thomas J Jentsch 1 collaboration

Michael Pusch 1 collaboration

Pankaj B Agrawal 1 collaboration

Nina Bögershausen 1 collaboration

Hannah E Krawczyk 1 collaboration

Rami A Jamra 1 collaboration

Sheng-Jia Lin 1 collaboration

Gökhan Yigit 1 collaboration

Irina Hüning 1 collaboration

Anna M Polo 1 collaboration

Barbara Vona 1 collaboration

Kevin Huang 1 collaboration

Julia Schmidt 1 collaboration

Janine Altmüller 1 collaboration

Beate B Dörgeloh 1 collaboration

Andreas Busche 1 collaboration

Saskia Biskup 1 collaboration

Marisa I Mendes 1 collaboration

Desiree E C Smith 1 collaboration

Gajja S Salomons 1 collaboration

Arne Zibat 1 collaboration

Eva Bültmann 1 collaboration

Peter Nürnberg 1 collaboration

Malte Spielmann 1 collaboration

Yun Li 1 collaboration

Martin Zenker 1 collaboration

Gaurav K Varshney 1 collaboration

Hauke S Hillen 1 collaboration

Christian P Kratz 1 collaboration

Bernd Wollnik 1 collaboration

Heinrich Sticht 1 collaboration

François Lecoquierre 1 collaboration

Alice Goldenberg 1 collaboration

Kathleen M Gorman 1 collaboration

Ben Molloy 1 collaboration

Silvana Briuglia 1 collaboration

Outi Kuismin 1 collaboration

Carlo Marcelis 1 collaboration

Antonio Vitobello 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Sophie Julia 1 collaboration