Peter Bauer (P Bauer)

ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 49

Top Venues

Clinical genetics

European journal of human genetics : EJHG

Movement disorders : official journal of the Movement Disorder Society

medRxiv : the preprint server for health sciences

Centogene AG

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centogene AG Jan 01 2016

Germany

Chief Scientific Officer

Universitätsklinikum Tübingen Aug 01 2001

Germany

Assitant Professor :: Insitute of Medical Genetics and Applied Genomics

Publications

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Harvy Mauricio Velasco, Aida Maria Bertoli-Avella, Carolina Jaramillo Jaramillo, Danny Styvens Cardona, Leonel Andrés González, Melisa Naranjo Vanegas, Juan Pablo Valencia Arango, Cesar Augusto Buitrago, Jorge Alberto Gutiérrez González, Jonas Marcello, Peter Bauer, Juliana Espinosa Moncada
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases. European journal of human genetics : EJHG (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Lothar Seefried, Anna Petryk, Guillermo Del Angel, Felix Reder, Peter Bauer
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants. Molecular biology reports 51 (1) (2024)
Anne Molitor, Alexandre Lederle, Mirjana Radosavljevic, Vinay Sapuru, Megan E Zavorka Thomas, Jianying Yang, Mahsa Shirin, Virginie Collin-Bund, Katerina Jerabkova-Roda, Zhichiao Miao, Alice Bernard, Véronique Rolli, Pierre Grenot, Carla Noemi Castro, Michelle Rosenzwajg, Elyssa G Lewis, Richard Person, Uxía-Saraiva Esperón-Moldes, Milja Kaare, Pekka T Nokelainen, Nurit Assia Batzir, Gal Zaks Hoffer, Nicodème Paul, Tristan Stemmelen, Lydie Naegely, Antoine Hanauer, Sabrina Bibi-Triki, Sarah Grün, Sophie Jung, Ignacio Busnelli, Kornelia Tripolszki, Ruslan Al-Ali, Natalia Ordonez, Peter Bauer, Eunkyung Song, Kristin N Zajo, Santiago Partida-Sanchez, Frank H Robledo-Avila, Attila Kumánovics, Yoram Louzoun, Aurélie Hirschler, Angélique Pichot, Ori Toker, Cesar Andrés Muñoz Mejía, Nima Parvaneh, Esther Knapp, Joseph H Hersh, Heather Kenney, Ottavia Maria Delmonte, Luigi Daniele Notarangelo, Jacky G Goetz, Samir B Kahwash, Christine Carapito, Rajinder P S Bajwa, Caroline Thomas, Stephan Ehl, Bertrand Isidor, Raphaël Carapito, Roshini S Abraham, Richard K Hite, Nufar Marcus, Aida Bertoli-Avella, Seiamak Bahram
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease. Science advances 10 (37) (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society 38 (3) (2023)
Mandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, Brigitte Kragl, Sabrina Lemke, Christian Beetz, Peter Bauer, Christian Junghanß, Ruslan Al-Ali
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients. Life (Basel, Switzerland) 13 (12) (2023)
Pilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, Sabine Schroeder, Deepthi Vagiri, Ligia S Almeida, Carlos Juaristi, Heba Hosny, Clarice C Y Loh, Anika Leubauer, Galina Torres Morales, Sebastian Oppermann, Marius-Ionuț Iurașcu, Steffen Fischer, Tara-Marisa Steinicke, Nikenza Viceconte, Claudia Cozma, Krishna Kumar Kandaswamy, Jorge Pinto Basto, Tobias Böttcher, Peter Bauer, Aida Maria Bertoli-Avella
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years. European journal of human genetics : EJHG (2023)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society 38 (3) (2023)
Luba M Pardo, Ruxandra Aanicai, Emir Zonic, Anna H Hakonen, Susan Zielske, Peter Bauer, Aida Maria Bertoli-Avella
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia. Clinical genetics (2023)
Mandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, Brigitte Kragl, Sabrina Lemke, Christian Beetz, Peter Bauer, Christian Junghanß, Ruslan Al-Ali
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients. Life (Basel, Switzerland) 13 (12) (2023)
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs, null null
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study. Diagnostics (Basel, Switzerland) 13 (17) (2023)
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida Maria Bertoli-Avella, Peter Bauer, Christian Beetz
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions. Movement disorders : official journal of the Movement Disorder Society (2023)
Minna Kraatari, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B Toosi, Christopher J Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida Maria Bertoli-Avella, Peppi Karppinen, Elisa J Rahikkala
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clinical genetics 102 (5) (2022)
Dillon Mintoff, Nikolai Paul Pace, B Al-Kawlani, Peter Bauer, Isabella Borg
Comorbid palmoplantar keratoderma type 1A and Loeys-Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (6) (2022)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzi, Tania C L S Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sana Iftikhar, Eresha Jasinge, Solaf M Elsayed, Hoda Tomoum, Iman Marzouk, Anil B Jalan, Agne Cerkauskaite, Rimante Cerkauskiene, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, Mona Kamel, Laila Abdel Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto-Basto, Aida Maria Bertoli-Avella, Peter Bauer
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. European journal of human genetics : EJHG 30 (9) (2022)
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
Correction to: 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 (2021)
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali AlGhamdi, Jozef L Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida Maria Bertoli-Avella, Peter Bauer
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clinical genetics 99 (4) (2021)
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, Mariam Al-Hilali, Homoud Al Hebby, Fahad Alabbas, Amal M Alhashem, Ghaleb Elyamany, Andre Megarbane, Melis Kose, Nadia Alhashmi, Nashat Al Sukaiti, Mohammed Al-Raqad, Samah Al-Tawalbeh, Omar Abu Adas Blanco, Fadiah Alkhattabi, Danielle Sng, Ruslan Al-Ali, Suliman Khan, Hasan Tawamie, Kornelia Tripolszki, Vasiliki Karageorgou, Roberta Trunzo, Fuad Al Mutairi, Bruno Reversade, Peter Bauer, Aida Maria Bertoli-Avella
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clinical genetics (2021)
Dillon Mintoff, Nikolai Paul Pace, Peter Bauer, Isabella Borg
A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study. Clinical and experimental dermatology 46 (7) (2021)
Christian Beetz, Ana Westenberger, Ruslan Al-Ali, Najim Ameziane, Nadia Alhashmi, Rose-Mary Boustany, Fuad Al Mutairi, Majid Alfadhel, Zuhair Al-Hassnan, Moenaldeen AlSayed, Krishna K Kandaswamy, Omid Paknia, Volha Skrahina, Arndt Rolfs, Peter Bauer
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact. Movement disorders : official journal of the Movement Disorder Society 36 (4) (2021)
Aida Maria Bertoli-Avella, Christian Beetz, Najim Ameziane, Peter Bauer
Reply letter to Battke et al. European journal of human genetics : EJHG 29 (5) (2021)
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C E Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, null null, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha Saad Zaki, Reza Maroofian, Joseph G Gleeson
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European journal of human genetics : EJHG 29 (2) (2020)
Kornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, Abdul Halim Kassim, Catarina Pereira, Arndt Rolfs, Peter Bauer, William Reardon, Aida Maria Bertoli-Avella
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clinical genetics 99 (2) (2020)
Paskal Cullufi, Mirela Tabaku, Virtut Velmishi, Agim Gjikopulli, Sonila Tomori, Ermira Dervishi, Aferdita Tako, Anika Leubauer, Ana Westenberger, Claudia Cozma, Christian Beetz, Peter Bauer, Stefan Wirth, Arndt Rolfs
Genetic characterization of the Albanian Gaucher disease patient population. JIMD reports 57 (1) (2020)
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
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 28 (8) (2020)
Salam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, Fahad Alhabshan, Natalia Ordonez, Salem Alawbathani, Suliman Khan, Mohamed S Kabbani, Farah Chaikhouni, Atia Sheereen, Iman Almohammed, Bader Alghamdi, Ingrid Frohn-Mulder, Salim Ahmad, Christian Beetz, Peter Bauer, Marja W Wessels, Manal Alaamery, Aida Maria Bertoli-Avella
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Clinical genetics 98 (1) (2020)
Aida Maria Bertoli-Avella, Christian Beetz, Najim Ameziane, Maria Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego-Alvarez, Michal Zawada, Krishna K Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius-Ionuț Iurașcu, Claudia Cozma, Florian Vogel, Amal M Alhashem, Jozef Hertecant, Aisha M Al-Shamsi, Abdulrahman Faiz Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed A Al Balwi, Majid Alfadhel, Nouriya Abbas Al-Sannaa, Willie Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. European journal of human genetics : EJHG 29 (1) (2020)
Christian Beetz, Najim Ameziane, Ameni Kdissa, Vasiliki Karageorgou, Peter Bauer, Jehan Suleiman, V Reid Sutton, Ayman W. El-Hattab
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clinical genetics 97 (4) (2019)
Zafer Yüksel, Florian Vogel, Amal M Alhashem, Talal S A Alanzi, Brahim Tabarki, Kapil Kampe, Krishna K Kandaswamy, Martin Werber, Aida M Bertoli-Avella, Christian Beetz, Arndt Rolfs, Peter Bauer
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Clinical genetics 95 (5) (2019)
C Baldi, A M Bertoli-Avella, N Al-Sannaa, M Alfadhel, K Al-Thihli, S Alameer, A A Elmonairy, A M Al Shamsi, H A Abdelrahman, Lihadh Al-Gazali, A Shawli, F Al-Hakami, H Yavuz, K K Kandaswamy, A Rolfs, O Brandau, Peter Bauer
Expanding the clinical and genetic spectra of NKX6-2-related disorder. Clinical genetics 93 (5) (2019)
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, Wolfgang N Löscher, Rolf Stucka, Daniela Karall, Tim M Strom, Peter Bauer, Birgit Krabichler, Christine Fauth, Dieter Glaeser, Jan Senderek
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clinical genetics 95 (1) (2018)
H Yavuz, A M Bertoli-Avella, M Alfadhel, N Al-Sannaa, K K Kandaswamy, W Al-Tuwaijri, A Rolfs, O Brandau, Peter Bauer
A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children. Clinical genetics 94 (3-4) (2018)
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, null null, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of medical genetics 54 (1) (2016)
Johanna Huttenlocher, Rejko Krüger, Philipp Capetian, Katja Lohmann, Kathrin Brockmann, Ilona Csoti, Christine Klein, Daniela Berg, Thomas Gasser, Michael Bonin, Olaf Riess, Peter Bauer
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. Journal of medical genetics 52 (1) (2014)

Peter Bauer.css-eqlu8i{font-size:small;padding-left:4px;} (P Bauer)

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Peter Bauer (P Bauer)