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Marc Sturm

Explore the profile of Marc Sturm including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 93
Citations 2365
Followers 0
Related Specialties
Genetics
Neurology
Biology
Top 10 Co-Authors
Tobias B Haack
Olaf Riess
Peter Bauer
Stephan Ossowski
Rebecca Buchert
Christopher Schroeder
Oliver Kohlbacher
Joohyun Park
Ludger Schols
Matthis Synofzik
Published In
Eur J Hum Genet
Brain
Mov Disord
Genet Med
Bioinformatics
Affiliations
Soon will be listed here.
Recent Articles
1.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med . 2025 Jan; 31(2):478-489. PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
2.
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
Buchert R, Burkhalter M, Huridou C, Sofan L, Roser T, Cremer K, et al.
Am J Hum Genet . 2025 Jan; 112(2):374-393. PMID: 39824192
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have...
3.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
Laugwitz L, Buchert R, Olguin P, Estiar M, Atanasova M, Marques Jr W, et al.
Am J Hum Genet . 2025 Jan; 112(1):168-180. PMID: 39753114
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic...
4.
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders
Kiesel A, Laugwitz L, Buchert R, Grimmel M, Baumann S, Sturm M, et al.
Brain . 2024 Dec; PMID: 39667038
No abstract available.
5.
A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, et al.
Blood . 2024 Dec; PMID: 39642330
We have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta...
6.
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"
Park J, Sturm M, Haack T
Genes (Basel) . 2024 Oct; 15(10). PMID: 39457446
We are writing in response to the comment [...].
7.
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling
Hanssen F, Gabernet G, Bauerle F, Stocker B, Wiegand F, Smith N, et al.
F1000Res . 2024 Sep; 12:1125. PMID: 39345270
We present the results of the human genomic small variant calling benchmarking initiative of the German Research Foundation (DFG) funded Next Generation Sequencing Competence Network (NGS-CN) and the German Human...
8.
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Mohren L, Erdlenbruch F, Leitao E, Kilpert F, Hones G, Kaya S, et al.
Nat Commun . 2024 Sep; 15(1):7665. PMID: 39227614
Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic...
9.
Expanding the genetic landscape of congenital neutropenia: mutations in three families revealed through whole exome sequencing
Klimiankou M, Tesakov I, Tsaknakis G, Boutakoglou E, Mavroudi I, Ritter M, et al.
Haematologica . 2024 Aug; 109(12):4140-4144. PMID: 39086298
No abstract available.
10.
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study
Mandler J, Hartl J, Cordts I, Sturm M, Hedderich D, Bafligil C, et al.
Mult Scler J Exp Transl Clin . 2024 Jul; 10(3):20552173241263491. PMID: 39072298
Background: Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective: We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed...