Publications by authors named "Marc Sturm"

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BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants.
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Marc Sturm

Cell· November 2025

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Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm

Epilepsia· October 2025

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Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Dennis Witt, Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger

Breast· August 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Marc Sturm

Nat Med· August 2025

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NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Friederike Hanssen, Gisela Gabernet, Famke Bäuerle, Bianca Stöcker, Felix Wiegand, Marc Sturm

F1000Res· July 2025

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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Marc Sturm

Nat Genet· July 2025

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HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.
Anna-Lena Katzke, Marvin Doebel, Jan Hauke, Gunnar Schmidt, Marc Sturm

Hum Genomics· July 2025

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A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Natalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, Mohammad ElGamacy, Benjamin Dannenmann, Marc Sturm

Blood· May 2025

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Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.
Joohyun Park, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Marc Sturm

Int J Mol Sci· May 2025

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Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.
Ann-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, Mona Grimmel, Sarah Baumann, Marc Sturm

Brain· April 2025

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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Rebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Marc Sturm

Am J Hum Genet· February 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Marc Sturm

Nat Med· February 2025

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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A Estiar, Mihaela Atanasova, Marc Sturm

Am J Hum Genet· January 2025

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Expanding the genetic landscape of congenital neutropenia: mutations in three families revealed through whole exome sequencing.
Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Marc Sturm

Haematologica· December 2024

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Reply to Battke et al. Comment on "Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. 2024, , 136".
Joohyun Park, Marc Sturm, Tobias B Haack

Genes (Basel)· October 2024

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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G Sebastian Hönes, Marc Sturm

Nat Commun· September 2024

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Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Marc Sturm

Eur J Hum Genet· August 2024

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Marc Sturm

Nat Genet· August 2024

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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Marc Sturm

Lab Anim (NY)· July 2024

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Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
Julia M Mandler, Johanna Härtl, Isabell Cordts, Marc Sturm, Dennis M Hedderich

Mult Scler J Exp Transl Clin· July 2024

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RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Marc Sturm

Lancet Neurol· June 2024

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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Marc Sturm

Nat Genet· June 2024

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Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Marc Sturm

Nat Commun· June 2024

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Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu

NPJ Parkinsons Dis· April 2024

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Quality assurance within the context of genome diagnostics (a german perspective).
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Marc Sturm

Med Genet· June 2023

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