Sabine Hoffjan

Ruhr University Bochum — Germany

Medicine · Health Sciences

38h-index5.0kcitations134works5.12yr avg
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Research Topics

Asthma and respiratory diseases(21), Dermatology and Skin Diseases(17), Multiple Sclerosis Research Studies(12), Genomics and Rare Diseases(12), Genomic variations and chromosomal abnormalities(10)

Publications134 total

Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency
Genetics in Medicine·2026Open Access
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2025Open Access
The Endocrine Chameleon: Expanding the phenotype of Pseudohypoparathyroidism 1A in infancy
Hormone Research in Paediatrics·2025
Genetik
Springer Reference Medizin·2025
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy
International Journal of Molecular Sciences·2024Open Access
Genomic and biological panoramas of non-muscle actinopathies
2024· 5 citedOpen Access
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2024· 34 citedOpen Access
Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation
Genes·2024· 2 citedOpen Access
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Neuropediatrics·2023· 5 citedOpen Access
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene
International Journal of Molecular Sciences·2023· 16 citedOpen Access
A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions
Clinical and Experimental Dermatology·2023
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
2023· 15 citedOpen Access
Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
International Journal of Molecular Sciences·2023· 2 citedOpen Access
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Genetics in Medicine·2022· 6 citedOpen Access
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes
International Journal of Molecular Sciences·2022· 13 citedOpen Access
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy
Genes·2022· 4 citedOpen Access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Genetics in Medicine·2022· 35 citedOpen Access
Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature
Journal of Ultrasound·2022· 5 citedOpen Access
Mitchell Syndrome Imitating an Inflammatory Myelitis
Neuropediatrics·2021
Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision
Journal of Neurology·2021· 5 citedOpen Access
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Frequent Co-authors

Jörg T. Epplen(19), Carole Ober(8), Denis A. Akkad(8), Gabriele Dekomien(8), Elisabeth Petrasch‐Parwez(6), Susanne Stemmler(5), Andrew Chan(5), Alfredo Rodríguez Antigüedad(5), Christian Kubisch(5), Dan L. Nicolae(4), James E. Gern(4), Raluca Nicolae(4), Lori Steiner(4), Karen Walker(4), Qumar Parwez(4), Christina M. Lill(4), Brit‐Maren M. Schjeide(4), Antonio Alcina(4), Orhan Aktaş(4), Paul Blaschke(4)