Publications

Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horvath, Thomas Lücke, Cheuk-Wing Fung, Suet-Na Wong, Elisenda Cortès-Saladelafont, M. Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Andrews, Birgit Assmann, Galina Stevanovic, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, H. Serap Sivri, Sven F. Garbade, Àngels García-Cazorla, Thomas Opladen (2024). The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency. In J Inherit Metab Dis..

Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger (2024). Absence of the RING domain in MID1 results in patterning defects in the developing human brain. In Life Science Alliance.

Moritz C. Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian P. Schaaf (2024). Hao-Fountain syndrome: 32 novel patients reveal new insightsinto the clinical spectrum. In Clinical Genetics.

Heiko Brennenstuhl, Christian P. Schaaf (2023). Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen. In Bundesgesundheitsblatt.

Johann G. Maaß, Heiko Brennenstuhl, Christian P. Schaaf (2023). Morbidity and mortality in Schaaf-Yang syndrome. In Annals of Translational Medicine.

Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley Patterson, Raymond Louie, Filippo Pinto E Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva Mc Schwaibold, Gladys Battisti, Benoit Parmentier, Servi J C Stevens (2023). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. In Journal of medical genetics.

Agathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Lisa Flint, Michel A Willemsen, Vincenzo Leuzzi, Angels Garcia Cazorla, Manju A Kurian, Marie Céline François-Heude, Paul Hwu, Bruria Ben Zeev, Karl Kiening, Thomas Roujeau, Roser Pons, Toni S Pearson (2023). Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up. In Journal of Inherited Metabolic Diseases.

Maximilian Christmann, Thomas Opladen, Heiko Brennenstuhl (2023). Sprachliche Auffälligkeiten bei Succinat-Semialdehyd-Dehydrogenase-Mangel – die Untersuchung der Sprache bei drei von SSADHD betroffenen Personen. In Praxis Sprache.

Julian Schröter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl (2023). aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment. In Computational and Structural Biotechnology Journal.

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Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann (2022). Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. In Genetics in Medicine.

Julian Schröter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl (2022). aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment. In biorxiv.

Maren Götz, Julian Schröter, Tal Dattner, Heiko Brennenstuhl, Dominic Lenz, Friederike Hörster, Jürgen G Okun, Georg F Hoffmann, Stefan Kölker, Christian Staufner (2022). Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency. In Molecular Genetics and Metabolism.

Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen (2022). Unmet Needs of Parents of Children with Urea Cycle Disorders. In Children 2022, 9(5), 712.

Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K. Pal, Michael J. Parker, Johannes R. Lemke, Georg F. Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe (2022). Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. In Eur J Hum Genet (2022).

Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, Jessika Johannsen, Heiko Brennenstuhl, Gudrun Schreiber, Marina Flotats-Bastardas, Corinna Stoltenburg, Hans Hartmann, Sabine Illsinger, Jonas Denecker, Astrid Pechmann, Wolfgang Müller-Felber, Katharina Vill, Astrid Blaschek, Martin Smitka, Lieske van der Stam, Katja Weiss, Benedikt Winter, Klaus Goldhahn, Barbara Plecko, Veronka Horber, Günther Bernert, Ralf A Hussain, Christian Rauscher, Regina Trollmann, Andreas Hahn, Maja von der Hagen, Angela M Kaindl (2021). Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. In The Lancet Child & Adolescent Health.

Carmen Longoa, Riccardo Montiolia, Giovanni Biselloa, Luana Palazzi, Mario Mastrangelo, Heiko Brennenstuhl, Patrizia Polverino de Laureto, Thomas Opladen, Vincenzo Leuzzi, Mariarita Bertoldi (2021). Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins. In Molecular Genetics and Metabolism 134 (2021) 147–155148.

Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aime Koht, Suet-Na Wong, Dimitrios I Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernandez Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomaš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanovic, Cheuk-Wing Fung (2021). Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry. In J Inherit Metab Dis. 2021;1–14.

Francesca Semino, Julian Schröter,, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup,, Stefanie Beck-Woedl, Heiko Brennenstuhl, Christian P. Schaaf, Stefan Kölker, Georg F. Hoffmann, Tobias B. Haack, Steffen Syrbe (2021). Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. In Human Mutation. 2021;42:1094–1100.

Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleich, Kathrin Jeltsch, Christina von Landenberg, Silvia Martini, Anna Simon, Christian Thiel, Konstantinos Tsiakas, Thomas Opladen, Stefan Kölker, Georg F Hoffmann, Dorothea Haas (2021). Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. In J Inherit Metab Dis. 2021;44:1272–1287.

Heiko Brennenstuhl, Stine Christ, Vanessa Kock (2021). The “Young Metabolic Society”: an interest group for young professionals in the field of metabolic medicine. In J Inherit Metab Dis. 2021;44:789..

Heiko Brennenstuhl, Manuel Will, Elias Ries, Konstantin Mechler, Sven Garbade, Markus Ries (2021). Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database. In BMJ Open 2021;11:e046359.

Heiko Brennenstuhl, Thomas Opladen (2021). Neue biochemische Methoden zur Diagnose des Aromatischen L-Aminosäure-Decarboxylase (AADC)-Mangels. In Neuropädiatrie in Klinik und Praxis.

Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Deborah Call, Kim Green, Ulrike Schara-Schmidt, Wolfgang Rascher, Annegret Hövel, Birgit Assmann, Stefan Kölker, Jens H Westhoff, Magdalena Walter, Andreas Ziegler, Georg F Hoffmann, Karl Kiening (2021). Empfehlungen zur intrazerebralen Gentherapie des Aromatischen L-Aminosäure- Decarboxylase-Mangels mit Eladocagene exuparvovec (Upstaza®). In Monatsschr Kinderheilkd 169, 738–747 (2021).

Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen (2020). Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. In Int. J. Mol. Sci. 2020, 21(22), 8578.

Heiko Brennenstuhl, Kim Green, Dominic Störzinger, Torsten Hoppe-Tichy, Peter Burgard, Ulrike Klein, Stefan Kölker, Sandra Neitemeier, Goentje-Gesine Schoch, Tim Steimle, Jens Baas, Georg F. Hoffmann, Ingo B. Autenrieth, Andreas Ziegler (2020). The Economic Impact of Innovative Therapies for Rare Diseases on Healthcare Providers and the Healthcare System in Germany – The Example of Spinal Muscular Atrophy. In ResearchSquare.

Dominic Lenz, Mirjam Stahl, Elias Seidl, Dominik Schöndorf, Heiko Brennenstuhl, Florian Gesenhues, Tina Heinzmann, Thomas Longerich, Marisa I Mendes, Holger Prokisch, Gajja S Salomons, Carola Schön, Desirée E C Smith, Olaf Sommerburg, Matias Wagner, Jens H Westhoff, Karl Reiter, Christian Staufner, Matthias Griese (2020). Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants. In Pediatric Pulmonology. 2020;55:3057–3066..

Dominic Lenz, Desirée Smith, Ellen Crushell, Ralf Husain, Gajja Salomons, Bader Alhaddad, Jonathan Bernstein, Alyssa Bianzano, Saskia Biskup, Heiko Brennenstuhl, Dominique Caldari, Nicola Dikow, Tobias Haack, Andrea Hanson-Kahn, Inga Harting, Denise Horn, Joanne Hughes, Maya Huijberts, Bertrand Isidor, Simone Kathemann, Robert Kopajtich, Urania Kotzaeridou, Sébastien Küry, Elke Lainka, Lucia Laugwitz, James Lupski, Jennifer Posey, Claire Reynolds, Jill Rosenfeld, Julian Schröter, Fleur Vansenne, Matias Wagner, Claudia Weiß, Bruce Wolffenbuttel, Saskia Wortmann, Stefan Kölker, Georg F Hoffmann, Holger Prokisch, Marisa Mendes, Christian Staufner (2020). Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. In Nature Genet Med (2020).

Heiko Brennenstuhl, Sven Garbade, Jürgen Okun, Patrik Feyh, Georg Hoffmann, Claus Dieter Langhans, Thomas Opladen (2020). Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency. In Mol Genet Metab. 2020;S1096-7192(20)30151-7.

Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven Garbade, Patrik Feyh, Stefan Kölker, Jürgen Okun, Georg Hoffmann, Thomas Opladen (2020). The quantification of 3-O-methyldopa in dried blood spots enables high-throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency. In Monatsschrift Kinderheilkunde 168:277–290, 2020.

Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen (2020). Succinic Semialdehyde Dehydrogenase Deficiency: An Update. In Cells 2020, 9, 477.

Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven Garbade, Patrik Feyh, Stefan Kölker, Jürgen Okun, Georg Hoffmann, Thomas Opladen (2019). High Throughput Newborn Screening for Aromatic L-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots. In J Inherit Metab Dis. 2020; 1– 9.

Heiko Brennenstuhl, Thomas Opladen, Darius Ebrahimi-Fakhari, Philipp Pearl, Mustafa Shahin, Christian Thome, Benjamin Lohrer, Marisa Karow, Sabine Jung-Klawitter (2019). Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a tool to model Succinic Semialdehyde Dehydrogenase Deficiency. In Journal of Inherited Metabolic Disease, Vol 42, Issue S1.

Heiko Brennenstuhl, Thomas Opladen, Darius Ebrahimi-Fakhari, Philipp Pearl, Mustafa Shahin, Christian Thome, Benjamin Lohrer, Marisa Karow, Sabine Jung-Klawitter (2019). The use of patient-derived induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids to explore pathomechanisms of succinc semialdehyde dehydrogenase deficiency. In Monatsschrift Kinderheilkunde 167:365, 2019.

Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen (2019). Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment. In Neuropediatrics, 50 (1), 2-14, Feb 2019.

Sonja Schötterl, Heiko Brennenstuhl, Ulrike Naumann (2015). Modulation of Immune Responses by Histone Deacetylase Inhibitors. In Crit Rev Oncog, 20 (1-2), 139-54 2015.

Heiko Brennenstuhl, Angela Armento, Anne Kristin Braczynski, Michel Mittelbronn, Ulrike Naumann (2015). IκBζ, an Atypical Member of the Inhibitor of Nuclear Factor Kappa B Family, Is Induced by γ-Irradiation in Glioma Cells, Regulating Cytokine Secretion and Associated With Poor Prognosis. In Int J Oncol, 47 (5), 1971-80, Nov 2015.