Publications by authors named "Tim Strom"

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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, Tim Strom

Nat Genet· July 2025

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HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Tim Strom

J Neuromuscul Dis· September 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, Tim Strom

Nat Genet· August 2024

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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Julia Zibold, Lola E R Lessard, Flavien Picard, Lara Gruijs da Silva, Yelyzaveta Zadorozhna, Tim M Strom

Brain· May 2024

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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, Arianna Tucci, Valentina Cipriani, German Demidov, Clarissa Rocca, Tim M Strom

Genet Med· October 2023

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Tim M Strom

Brain· August 2023

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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, Arianna Tucci, Valentina Cipriani, German Demidov, Clarissa Rocca, Tim M Strom

Genet Med· October 2022

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Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Tim M Strom

Genet Med· September 2022

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Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Theresa Brunet, Riccardo Berutti, Veronika Dill, Judith S Hecker, Daniela Choukair, Tim M Strom

Hum Mol Genet· July 2022

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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Tim M Strom

Cancers (Basel)· July 2022

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Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Tim M Strom

Eur J Public Health· June 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Tim M Strom

Genome Med· April 2022

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Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Tim M Strom

Med Genet· April 2022

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Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Hana Kolarova, Jing Tan, Tim M Strom, Thomas Meitinger, Matias Wagner

EBioMedicine· March 2022

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Tim M Strom

Brain· September 2021

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Identification of a Functional Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.
Tan An Dang, Thorsten Kessler, Jana Wobst, Michael Wierer, Ingrid Braenne, Tim M Strom

Circulation· August 2021

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De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Tim M Strom

Clin Genet· July 2021

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TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.
Camille Cenni, Stephanie Andres, Maja Hempel, Tim M Strom, Ellen Thomas

Eur J Med Genet· July 2021

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Tim M Strom

Brain· June 2021

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Julia K Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Tim M Strom

Nat Commun· June 2021

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Tim M Strom

Nat Commun· May 2021

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Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.
Andreas C Eberherr, Andre Maaske, Christine Wolf, Florian Giesert, Riccardo Berutti, Tim M Strom

CRISPR J· April 2021

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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Michael Zech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Tim M Strom

Parkinsonism Relat Disord· March 2021

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Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.
Arezoo Daryadel, Pedro A Ruiz, Nicole Gehring, Dragana Stojanovic, Marko Ugrica, Tim M Strom

FASEB J· February 2021

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A novel homozygous variant in exon 10 of the gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.
Devi Dayal, Shruti Gupta, Rakesh Kumar, Radhika Srinivasan, Bettina Lorenz-Depiereux, Tim M Strom

Intractable Rare Dis Res· February 2021

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