Heiko Brennenstuhl

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 22

Top Venues

Journal of inherited metabolic disease

Life science alliance

Clinical genetics

International journal of molecular sciences

University Hospital Heidelberg

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

Affiliation History

University Hospital Heidelberg

Germany

MD :: Pediatrics

Publications

Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian Patrick Schaaf
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical genetics 105 (5) (2024)
Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger
Absence of the RING domain in MID1 results in patterning defects in the developing human brain. Life science alliance 7 (4) (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G Okun, Christian Patrick Schaaf, Eva C Winkler, Stefan Kölker
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? International journal of neonatal screening 10 (3) (2024)
Isabel R Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F Garbade, Christian P Schaaf, Heiko Brennenstuhl
Comparative analysis of gene and disease selection in genomic newborn screening studies. Journal of inherited metabolic disease (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian Patrick Schaaf
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical genetics (2024)
Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger
Absence of the RING domain in MID1 results in patterning defects in the developing human brain. Life science alliance 7 (4) (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease (2024)
Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger
Absence of the RING domain in MID1 results in patterning defects in the developing human brain. Life science alliance 7 (4) (2024)
Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger
Absence of the RING domain in MID1 results in patterning defects in the developing human brain. Life science alliance 7 (4) (2024)
Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian Patrick Schaaf
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical genetics 105 (5) (2024)
Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian Patrick Schaaf
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical genetics 105 (5) (2024)
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
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. European journal of human genetics : EJHG 30 (3) (2022)
Mara Scharping, Heiko Brennenstuhl, Sven F Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W Haun, Thomas Opladen
Unmet Needs of Parents of Children with Urea Cycle Disorders. Children (Basel, Switzerland) 9 (5) (2022)
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee 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, null null, Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F Hoffmann, Stacey Tay Kiat Hong, Tomáš 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 Stevanović, Cheuk-Wing Fung
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. Journal of inherited metabolic disease 44 (6) (2021)
Heiko Brennenstuhl, Manuel Will, Elias Ries, Konstantin Mechler, Sven Garbade, Markus Ries
Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database. BMJ open 11 (6) (2021)
Jan H Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin Alexandra Klotz, Thomas Bast, Tobias Dietel, G Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke Steensjerre Moller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg Friedrich Hoffmann, Johannes R Lemke, Steffen Syrbe
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. International journal of molecular sciences 22 (6) (2021)
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, null null
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. Journal of inherited metabolic disease 44 (5) (2021)
Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F Garbade, Steffen Syrbe, Patrik Feyh, Stefan Kölker, Jürgen G Okun, Georg F Hoffmann, Thomas Opladen
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. Journal of inherited metabolic disease 43 (3) (2020)
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
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants. Pediatric pulmonology 55 (11) (2020)
Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. International journal of molecular sciences 21 (22) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Heiko Brennenstuhl