Christian Beetz

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 45

Top Venues

International journal of molecular sciences

Clinical genetics

Movement disorders : official journal of the Movement Disorder Society

European journal of human genetics : EJHG

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

Publications

Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (2024)
Ana Westenberger, Volha Skrahina, Tatiana Usnich, Christian Beetz, Eva-Juliane Vollstedt, Björn-Hergen Laabs, Jefri J Paul, Filipa Curado, Snezana Skobalj, Hanaa Gaber, Maria Olmedillas, Xenia Bogdanovic, Najim Ameziane, Nathalie Schell, Jan Olav Aasly, Mitra Afshari, Pinky Agarwal, Jason Aldred, Fernando Alonso-Frech, Roderick Anderson, Rui Araújo, David Arkadir, Micol Avenali, Mehmet Balal, Sandra Benizri, Sagari Bette, Perminder Bhatia, Michael Bonello, Pedro Braga-Neto, Sarah Brauneis, Francisco Eduardo Costa Cardoso, Francesco Cavallieri, Joseph Classen, Lisa Cohen, Della Coletta, David Crosiers, Paskal Cullufi, Khashayar Dashtipour, Meltem Demirkiran, Patricia de Carvalho Aguiar, Anna De Rosa, Ruth Djaldetti, Okan Dogu, Maria Gabriela Dos Santos Ghilardi, Carsten Eggers, Bulent Elibol, Aaron Ellenbogen, Sibel Ertan, Giorgio Fabiani, Björn H Falkenburger, Simon Farrow, Tsviya Fay-Karmon, Gerald J Ferencz, Erich Talamoni Fonoff, Yara Dadalti Fragoso, Gençer Genç, Arantza Gorospe, Francisco Grandas, Doreen Gruber, Mark Gudesblatt, Tanya Gurevich, Johann Hagenah, Hasmet A Hanagasi, Sharon Hassin-Baer, Robert A Hauser, Jorge Hernández-Vara, Birgit Herting, Vanessa K Hinson, Elliot Hogg, Michele Tao-Ming Hu, Eduardo Hummelgen, Kelly Hussey, Jon Infante, Stuart H Isaacson, Serge Jauma, Natalia Koleva-Alazeh, Gregor Kuhlenbäumer, Andrea Kühn, Irene Litvan, Lydia López-Manzanares, McKenzie Luxmore, Sujeena Manandhar, Veronique Marcaud, Katerina Markopoulou, Connie Marras, Mark McKenzie, Michele Matarazzo, Marcelo Merello, Brit Mollenhauer, John C Morgan, Stephen Mullin, Thomas Musacchio, Bennett Myers, Anna Negrotti, Anette Nieves, Zeev Nitsan, Nader Oskooilar, Özgür Öztop-Çakmak, Gian Pal, Nicola Pavese, Antonio Percesepe, Tommaso Piccoli, Carolina Pinto de Souza, Tino Prell, Mark Pulera, Jason Raw, Kathrin Reetz, Johnathan Reiner, David Rosenberg, Marta Ruiz-Lopez, Javier Ruiz Martinez, Esther Sammler, Bruno Lopes Dos Santos-Lobato, Rachel Saunders-Pullman, Ilana Schlesinger, Christine M Schofield, Artur F Schumacher-Schuh, Burton Scott, Ángel Sesar, Stuart J Shafer, Ray Sheridan, Monty Silverdale, Rani Sophia, Mariana Spitz, Pantelis Stathis, Fabrizio Stocchi, Michele Tagliati, Yen F Tai, Annelies Terwecoren, Sven Thonke, Lars Tönges, Giulia Toschi, Vitor Tumas, Peter Paul Urban, Laura Vacca, Wim Vandenberghe, Enza Maria Valente, Franco Valzania, Lydia Vela-Desojo, Caroline Weill, David Weise, Joanne Wojcieszek, Martin Wolz, Gilad Yahalom, Gul Yalcin-Cakmakli, Simone Zittel, Yair Zlotnik, Krishna K Kandaswamy, Alexander Balck, Henrike Hanssen, Max Borsche, Lara M Lange, Ilona Csoti, Katja Lohmann, Meike Kasten, Norbert Brüggemann, Arndt Rolfs, Christine Klein, Peter Bauer
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study. Brain : a journal of neurology 147 (8) (2024)
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (2024)
Ana Westenberger, Volha Skrahina, Tatiana Usnich, Christian Beetz, Eva-Juliane Vollstedt, Björn-Hergen Laabs, Jefri J Paul, Filipa Curado, Snezana Skobalj, Hanaa Gaber, Maria Olmedillas, Xenia Bogdanovic, Najim Ameziane, Nathalie Schell, Jan Olav Aasly, Mitra Afshari, Pinky Agarwal, Jason Aldred, Fernando Alonso-Frech, Roderick Anderson, Rui Araújo, David Arkadir, Micol Avenali, Mehmet Balal, Sandra Benizri, Sagari Bette, Perminder Bhatia, Michael Bonello, Pedro Braga-Neto, Sarah Brauneis, Francisco Eduardo Costa Cardoso, Francesco Cavallieri, Joseph Classen, Lisa Cohen, Della Coletta, David Crosiers, Paskal Cullufi, Khashayar Dashtipour, Meltem Demirkiran, Patricia de Carvalho Aguiar, Anna De Rosa, Ruth Djaldetti, Okan Dogu, Maria Gabriela Dos Santos Ghilardi, Carsten Eggers, Bulent Elibol, Aaron Ellenbogen, Sibel Ertan, Giorgio Fabiani, Björn H Falkenburger, Simon Farrow, Tsviya Fay-Karmon, Gerald J Ferencz, Erich Talamoni Fonoff, Yara Dadalti Fragoso, Gençer Genç, Arantza Gorospe, Francisco Grandas, Doreen Gruber, Mark Gudesblatt, Tanya Gurevich, Johann Hagenah, Hasmet A Hanagasi, Sharon Hassin-Baer, Robert A Hauser, Jorge Hernández-Vara, Birgit Herting, Vanessa K Hinson, Elliot Hogg, Michele Tao-Ming Hu, Eduardo Hummelgen, Kelly Hussey, Jon Infante, Stuart H Isaacson, Serge Jauma, Natalia Koleva-Alazeh, Gregor Kuhlenbäumer, Andrea Kühn, Irene Litvan, Lydia López-Manzanares, McKenzie Luxmore, Sujeena Manandhar, Veronique Marcaud, Katerina Markopoulou, Connie Marras, Mark McKenzie, Michele Matarazzo, Marcelo Merello, Brit Mollenhauer, John C Morgan, Stephen Mullin, Thomas Musacchio, Bennett Myers, Anna Negrotti, Anette Nieves, Zeev Nitsan, Nader Oskooilar, Özgür Öztop-Çakmak, Gian Pal, Nicola Pavese, Antonio Percesepe, Tommaso Piccoli, Carolina Pinto de Souza, Tino Prell, Mark Pulera, Jason Raw, Kathrin Reetz, Johnathan Reiner, David Rosenberg, Marta Ruiz-Lopez, Javier Ruiz Martinez, Esther Sammler, Bruno Lopes Dos Santos-Lobato, Rachel Saunders-Pullman, Ilana Schlesinger, Christine M Schofield, Artur F Schumacher-Schuh, Burton Scott, Ángel Sesar, Stuart J Shafer, Ray Sheridan, Monty Silverdale, Rani Sophia, Mariana Spitz, Pantelis Stathis, Fabrizio Stocchi, Michele Tagliati, Yen F Tai, Annelies Terwecoren, Sven Thonke, Lars Tönges, Giulia Toschi, Vitor Tumas, Peter Paul Urban, Laura Vacca, Wim Vandenberghe, Enza Maria Valente, Franco Valzania, Lydia Vela-Desojo, Caroline Weill, David Weise, Joanne Wojcieszek, Martin Wolz, Gilad Yahalom, Gul Yalcin-Cakmakli, Simone Zittel, Yair Zlotnik, Krishna K Kandaswamy, Alexander Balck, Henrike Hanssen, Max Borsche, Lara M Lange, Ilona Csoti, Katja Lohmann, Meike Kasten, Norbert Brüggemann, Arndt Rolfs, Christine Klein, Peter Bauer
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study. Brain : a journal of neurology 147 (8) (2024)
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (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)
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)
Tama Dinur, Peter Bauer, Christian Beetz, Claudia Cozma, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Volha Skrahina, Ari Zimran, Shoshana Revel-Vilk
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease. International journal of molecular sciences 24 (4) (2023)
Tama Dinur, Peter Bauer, Christian Beetz, Claudia Cozma, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Volha Skrahina, Ari Zimran, Shoshana Revel-Vilk
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease. International journal of molecular sciences 24 (4) (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)
Tama Dinur, Peter Bauer, Christian Beetz, Claudia Cozma, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Volha Skrahina, Ari Zimran, Shoshana Revel-Vilk
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease. International journal of molecular sciences 24 (4) (2023)
Tama Dinur, Peter Bauer, Christian Beetz, Claudia Cozma, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Volha Skrahina, Ari Zimran, Shoshana Revel-Vilk
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease. International journal of molecular sciences 24 (4) (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)
Pitipanage Mihika Samindi Fernando, R A Saraji R Gunasekara, Sabine Schröder, Christian Beetz, Anura Jayawardena, Eresha A Jasinge
Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child. Laboratory medicine (2023)
Tama Dinur, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius-Ionuț Iurașcu, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Ari Zimran, Shoshana Revel-Vilk
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? International journal of molecular sciences 23 (3) (2022)
Salem Alawbathani, Suliman Khan, Ana Westenberger, Christian Beetz, Lokesh Lingappa
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family. Clinical genetics (2022)
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center. Orphanet journal of rare diseases 17 (1) (2022)
Azza Salah, Mohammed Almannai, Mode Al Ojaimi, Mandy Radefeldt, Nishtha Gulati, Maria Iqbal, Salem Alawbathani, Ruslan Al-Ali, Christian Beetz, Ayman W. El-Hattab
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Clinical genetics 101 (5-6) (2022)
Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon. Journal of medical genetics 59 (10) (2022)
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)
Salam Massadeh, Maha Albeladi, Nour Albesher, Fahad Alhabshan, Kapil Dev Kampe, Farah Chaikhouni, Mohamed S Kabbani, Christian Beetz, Manal Alaamery
Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease. Genes 12 (5) (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)
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T A Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N Alagramam, David P Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J H Smith, Thomas Haaf, Aziz El-Amraoui, Michael R Bowl, Guarav K Varshney, Hamid Galehdari
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human genetics 140 (6) (2021)
Noha Musa, Mohamed A Elmonem, Christian Beetz, Mona Hafez, Mona Hassan, Arndt Rolfs, Laila Selim, Nour Elkhateeb
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Clinical genetics 100 (5) (2021)
Timothy M Reynolds, Anthony S Wierzbicki, Volha Skrahina, Christian Beetz, null null
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study. International journal of clinical practice 75 (9) (2021)
Maha Saad Zaki, Andrea Accogli, Ghayda M Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G Gleeson, Reza Maroofian
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. European journal of human genetics : EJHG 29 (8) (2021)
Volha Skrahina, Hanaa Gaber, Eva-Juliane Vollstedt, Toni M Förster, Tatiana Usnich, Filipa Curado, Norbert Brüggemann, Jefri Paul, Xenia Bogdanovic, Selen Zülbahar, Maria Olmedillas, Snezana Skobalj, Najim Ameziane, Peter Bauer, Ilona Csoti, Natalia Koleva-Alazeh, Ulrike Grittner, Ana Westenberger, Meike Kasten, Christian Beetz, Christine Klein, Arndt Rolfs, null null
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings. Movement disorders : official journal of the Movement Disorder Society 36 (4) (2020)
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)
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)
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Y Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O'Connell, Henry Houlden
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. Journal of medical genetics 58 (7) (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)
Christian Beetz, Volha Skrahina, Toni M Förster, Hanaa Gaber, Jefri J Paul, Filipa Curado, Arndt Rolfs, Peter Bauer, Stephan Schäfer, Volkmar Weckesser, Vivi Lieu, Mandy Radefeldt, Claudia Pöppel, Susann Krake, Krishna K Kandaswamy, Katja Bruesehafer, Florian Vogel
Rapid Large-Scale COVID-19 Testing During Shortages. Diagnostics (Basel, Switzerland) 10 (7) (2020)
Michaela Auer-Grumbach, Rene Rettl, Klemens Ablasser, Hermine Agis, Christian Beetz, Franz Duca, Martin Gattermeier, Franz Glaser, Markus Hacker, Renate Kain, Birgit Kaufmann, Gábor G Kovács, Christian Lampl, Neira Ljevakovic, Jutta Nagele, Gerhard Poelzl, Stefan Quasthoff, Bernadette Raimann, Helmut Rauschka, Christian Reiter, Volha Skrahina, Othmar Schuhfried, Raute Sunder-Plassmann, Nicolas D Verheyen, Julia Wanschitz, Thomas Weber, Reinhard Windhager, Raphael Wurm, Friedrich Zimprich, Wolfgang N Löscher, Diana Bonderman
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots. Journal of clinical medicine 9 (7) (2020)
Claudia Cozma, Paskal Cullufi, Guido Kramp, Marina Hovakimyan, Virtut Velmishi, Agim Gjikopulli, Sonila Tomori, Steffen Fischer, Sebastian Oppermann, Ulrike Grittner, Peter Bauer, Christian Beetz, Arndt Rolfs
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots. International journal of molecular sciences 21 (13) (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)
Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott, Oliver Brandau, Lia Abbasi-Moheb, Zafer Yüksel, Peter Bauer, Arndt Rolfs, Nana-Maria Grüning
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. Journal of human genetics 65 (2) (2019)
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)
Maria Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, Daíse Moreno Sás, Charles Marques Lourenço, Krishna K Kandaswamy, Christian Beetz, Arndt Rolfs, Peter Bauer, Willie Reardon, Aida M Bertoli-Avella
Novel clinical and genetic insight into CXorf56-associated intellectual disability. European journal of human genetics : EJHG 28 (3) (2019)
Rachel Allison, James R Edgar, Guy J Pearson, Tania Rizo, Timothy Newton, Sven Günther, Fiamma Berner, Jennifer Hague, James W Connell, Juergen Winkler, Jennifer Lippincott-Schwartz, Christian Beetz, Beate Winner, Evan Reid
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. The Journal of cell biology 216 (5) (2017)
Andrea S Bock, Sven Günther, Julia Mohr, Lisa V Goldberg, Amir Jahic, Cornelia Klisch, Christian A Hübner, Saskia Biskup, Christian Beetz
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif. Human mutation 39 (2) (2017)
Catherine Breen, Jean Mercer, Simon A Jones, Amir Jahic, Lesley Heptinstall, Karen Tylee, William G Newman, Christian Beetz
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I. Human genome variation 3 (2016)

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Christian Beetz