Reinhard Keimer

Affiliations

Caritas Baby Hospital, Bethlehem, Palestine.

Publications (4)

A previously identified missense mutation in STYXL1 is likely benign.

European journal of medical genetics

Avec: Holger Hengel , Yvonne Schelling , Reinhard Keimer , Werner Deigendesch , Peter Bauer , Ludger Schöls

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

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

Avec: René G Feichtinger , Bettina E Mucha , Holger Hengel , Zakaria Orfi , Christine Makowski , Junio Dort , Guy D'Anjou , Thi Tuyet Mai Nguyen , Rebecca Buchert , Hendrik Juenger , Peter Freisinger , Sarah Baumeister , Benedikt Schoser , Uwe Ahting , Reinhard Keimer , Cam-Tu Emilie Nguyen , Paul Fabre , Julie Gauthier , Marguerite Miguet , Fátima Lopes , Afnan AlHakeem , Amal AlHashem , Brahim Tabarki , Krishna Kumar Kandaswamy , Peter Bauer , Peter Steinbacher , Holger Prokisch , Marc Sturm , Tim M Strom , Benjamin Ellezam , Johannes A Mayr , Ludger Schöls , Jacques L Michaud , Philippe M Campeau , Tobias B Haack , Nicolas A Dumont

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nature communications

Avec: Holger Hengel , Célia Bosso-Lefèvre , George Grady , Emmanuelle Szenker-Ravi , Hankun Li , Sarah Pierce , Élise Lebigot , Thong-Teck Tan , Michelle Y Eio , Gunaseelan Narayanan , Kagistia Hana Utami , Monica Yau , Nader Handal , Werner Deigendesch , Reinhard Keimer , Hiyam M Marzouqa , Meral Gunay-Aygun , Michael J Muriello , Helene Verhelst , Sarah Weckhuysen , Sonal Mahida , Sakkubai Naidu , Terrence G Thomas , Jiin Ying Lim , Ee Shien Tan , Damien Haye , Michèl A A P Willemsen , Renske Oegema , Wendy G Mitchell , Tyler Mark Pierson , Marisa V Andrews , Marcia C Willing , Lance H Rodan , Tahsin Stefan Barakat , Marjon van Slegtenhorst , Ralitza H Gavrilova , Diego Martinelli , Tal Gilboa , Abdullah M Tamim , Mais O Hashem , Moeenaldeen D AlSayed , Maha M Abdulrahim , Mohammed Al-Owain , Ali Awaji , Adel A H Mahmoud , Eissa A Faqeih , Ali Al Asmari , Sulwan M Algain , Lamyaa A Jad , Hesham M Aldhalaan , Ingo Helbig , David A Koolen , Angelika Riess , Ingeborg Kraegeloh-Mann , Peter Bauer , Suleyman Gulsuner , Hannah Stamberger , Alvin Yu Jin Ng , Sha Tang , Sumanty Tohari , Boris Keren , Laura E Schultz-Rogers , Eric W Klee , Sabina Barresi , Marco Tartaglia , Hagar Mor-Shaked , Sateesh Maddirevula , Amber Begtrup , Aida Telegrafi , Rolph Pfundt , Rebecca Schüle , Brian Ciruna , Carine Bonnard , Mahmoud A Pouladi , James C Stewart , Adam Claridge-Chang , Dirk J Lefeber , Fowzan S Alkuraya , Ajay S Mathuru , Byrappa Venkatesh , Joseph J Barycki , Melanie A Simpson , Saumya S Jamuar , Ludger Schöls , Bruno Reversade

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

European journal of human genetics : EJHG

Avec: Holger Hengel , Rebecca Buchert , Marc Sturm , Tobias B Haack , Yvonne Schelling , Muhammad Mahajnah , Rajech Sharkia , Abdussalam Azem , Ghassan Balousha , Zaid Ghanem , Mohammed Falana , Osama Balousha , Suhail Ayesh , Reinhard Keimer , Werner Deigendesch , Jimmy Zaidan , Hiyam Marzouqa , Peter Bauer , Ludger Schöls

Réseau de co-auteurs

Holger Hengel 4 collaborations

Peter Bauer 4 collaborations

Ludger Schöls 4 collaborations

Werner Deigendesch 3 collaborations

Yvonne Schelling 2 collaborations

Rebecca Buchert 2 collaborations

Marc Sturm 2 collaborations

Tobias B Haack 2 collaborations

René G Feichtinger 1 collaboration

Bettina E Mucha 1 collaboration

Zakaria Orfi 1 collaboration

Christine Makowski 1 collaboration

Junio Dort 1 collaboration

Guy D'Anjou 1 collaboration

Thi Tuyet Mai Nguyen 1 collaboration

Hendrik Juenger 1 collaboration

Peter Freisinger 1 collaboration

Sarah Baumeister 1 collaboration

Benedikt Schoser 1 collaboration

Uwe Ahting 1 collaboration

Cam-Tu Emilie Nguyen 1 collaboration

Paul Fabre 1 collaboration

Julie Gauthier 1 collaboration

Marguerite Miguet 1 collaboration

Fátima Lopes 1 collaboration

Afnan AlHakeem 1 collaboration

Amal AlHashem 1 collaboration

Brahim Tabarki 1 collaboration

Krishna Kumar Kandaswamy 1 collaboration

Peter Steinbacher 1 collaboration

Holger Prokisch 1 collaboration

Tim M Strom 1 collaboration

Benjamin Ellezam 1 collaboration

Johannes A Mayr 1 collaboration

Jacques L Michaud 1 collaboration

Philippe M Campeau 1 collaboration

Nicolas A Dumont 1 collaboration

Célia Bosso-Lefèvre 1 collaboration

George Grady 1 collaboration

Emmanuelle Szenker-Ravi 1 collaboration

Hankun Li 1 collaboration

Sarah Pierce 1 collaboration

Élise Lebigot 1 collaboration

Thong-Teck Tan 1 collaboration

Michelle Y Eio 1 collaboration

Gunaseelan Narayanan 1 collaboration

Kagistia Hana Utami 1 collaboration

Monica Yau 1 collaboration

Nader Handal 1 collaboration

Hiyam M Marzouqa 1 collaboration

Meral Gunay-Aygun 1 collaboration

Michael J Muriello 1 collaboration

Helene Verhelst 1 collaboration

Sarah Weckhuysen 1 collaboration

Sonal Mahida 1 collaboration

Sakkubai Naidu 1 collaboration

Terrence G Thomas 1 collaboration

Jiin Ying Lim 1 collaboration

Ee Shien Tan 1 collaboration

Damien Haye 1 collaboration

Michèl A A P Willemsen 1 collaboration

Renske Oegema 1 collaboration

Wendy G Mitchell 1 collaboration

Tyler Mark Pierson 1 collaboration

Marisa V Andrews 1 collaboration

Marcia C Willing 1 collaboration

Lance H Rodan 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Ralitza H Gavrilova 1 collaboration

Diego Martinelli 1 collaboration

Tal Gilboa 1 collaboration

Abdullah M Tamim 1 collaboration

Mais O Hashem 1 collaboration

Moeenaldeen D AlSayed 1 collaboration

Maha M Abdulrahim 1 collaboration

Mohammed Al-Owain 1 collaboration

Ali Awaji 1 collaboration

Adel A H Mahmoud 1 collaboration

Eissa A Faqeih 1 collaboration

Ali Al Asmari 1 collaboration

Sulwan M Algain 1 collaboration

Lamyaa A Jad 1 collaboration

Hesham M Aldhalaan 1 collaboration

Ingo Helbig 1 collaboration

David A Koolen 1 collaboration

Angelika Riess 1 collaboration

Ingeborg Kraegeloh-Mann 1 collaboration

Suleyman Gulsuner 1 collaboration

Hannah Stamberger 1 collaboration

Alvin Yu Jin Ng 1 collaboration

Sha Tang 1 collaboration

Sumanty Tohari 1 collaboration

Boris Keren 1 collaboration

Laura E Schultz-Rogers 1 collaboration

Eric W Klee 1 collaboration

Sabina Barresi 1 collaboration

Marco Tartaglia 1 collaboration

Hagar Mor-Shaked 1 collaboration

Sateesh Maddirevula 1 collaboration

Amber Begtrup 1 collaboration

Aida Telegrafi 1 collaboration

Rolph Pfundt 1 collaboration

Rebecca Schüle 1 collaboration

Brian Ciruna 1 collaboration

Carine Bonnard 1 collaboration

Mahmoud A Pouladi 1 collaboration

James C Stewart 1 collaboration

Adam Claridge-Chang 1 collaboration

Dirk J Lefeber 1 collaboration

Fowzan S Alkuraya 1 collaboration

Ajay S Mathuru 1 collaboration

Byrappa Venkatesh 1 collaboration

Joseph J Barycki 1 collaboration

Melanie A Simpson 1 collaboration

Saumya S Jamuar 1 collaboration

Bruno Reversade 1 collaboration

Muhammad Mahajnah 1 collaboration

Rajech Sharkia 1 collaboration

Abdussalam Azem 1 collaboration

Ghassan Balousha 1 collaboration

Zaid Ghanem 1 collaboration

Mohammed Falana 1 collaboration

Osama Balousha 1 collaboration

Suhail Ayesh 1 collaboration

Jimmy Zaidan 1 collaboration

Hiyam Marzouqa 1 collaboration