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Author Details

Tim M Strom
1986
382
95
PMIDPaper TitleJournal TitlePublished Year
37257449Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer.2023
37650884Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Genet Med2023
36757831The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain2023
35165720Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.Eur J Public Health2022
35379322Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome Med2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35180557Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.EBioMedicine2022
35179199Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.Hum Mol Genet2022
34424768Identification of a Functional <i>PDE5A</i> Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.Circulation2021
33970200Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
33963192Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Nat Commun2021
33475190Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.FASEB J2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
33465056Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.J Clin Invest2021
33619735De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.Clin Genet2021
33459760Bi-allelic truncating mutations in VWA1 cause neuromyopathy.Brain2021
33614378A novel homozygous variant in exon 10 of the gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.Intractable and Rare Diseases Research2021
33876960Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.CRISPR J2021
33611074Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.Parkinsonism and Related Disorders2021
33930582TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.European Journal of Medical Genetics2021
32887937Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.Eur J Hum Genet2021
33259146A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.Ann Clin Transl Neurol2021
32980981A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.Journal of Neurology2021
34480796Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
31407473Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.Eur J Neurol2020
32433956MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.Cell Reports2020
32359821Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.American Journal of Kidney Diseases2020
32065501Nine newly identified individuals refine the phenotype associated with MYT1L mutations.Am J Med Genet A2020
32305867Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.EBioMedicine2020
32004447Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.Am J Hum Genet2020
31834374MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain2020
32099069Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.Genet Med2020
32212377Human RAD50 deficiency: Confirmation of a distinctive phenotype.American Journal of Medical Genetics, Part A2020
32086284Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.J Med Genet2020
33098801Monogenic variants in dystonia: an exome-wide sequencing study.Lancet Neurol2020
32763190Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2020
32707086Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.Am J Hum Genet2020
33096486Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].EBioMedicine2020
33144514The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>.Neurology2020
33028849Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.Sci Rep2020
32799315Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.Clinical Genetics2020
32515053Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.FASEB Journal2020
32629324Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.Parkinsonism and Related Disorders2020
33282382Acute Stanford type B aortic dissection-who benefits from genetic testing?Journal of Thoracic Disease2020
33009664Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.Clinical Genetics2020
30778172Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.European Journal of Human Genetics2019
31903434Rare genetic variants in patients with cervical artery dissection.European Stroke Journal2019
32694784Functional identity of hypothalamic melanocortin neurons depends on Tbx3.Nat Metab2019
30556293Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.Am J Med Genet A2019
29923093A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.JIMD Rep2019
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Technical University of Munich, Institute of Human Genetics
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University Children's Hospital, Paracelsus Medical University
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Hospital Reutlingen
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German Center for Diabetes Research (DZD e.V.)
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Newcastle upon Tyne Hospitals NHS Foundation Trust
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Maastricht University Medical Centre
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German Research Center for Cardiovascular Disease (DZHK)
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Paracelsus Medical University
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Institute of Neurology, University College London (UCL)
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Institute of Experimental Genetics, German Mouse Clinic
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School of Clinical Medicine, University of Cambridge
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Hussman Institute for Human Genomics, University of Miami
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Ludwig-Maximilians-Universitat Munchen
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Medical University of Vienna
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King's College London
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Children's Hospital of Eastern Ontario Research Institute
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Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
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