Tim M. Strom

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 284 publications

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Journal: Journal of neuromuscular diseases

Published: August 09, 2024

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 31, 2023

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

Journal: Brain : a journal of neurology

Published: July 06, 2023

Presence of the partner in the operating room during a category 1 cesarean section: a prospective explorative study.

Presence of the partner in the operating room during a category 1 cesarean section: a prospective explorative study.

Journal: International journal of obstetric anesthesia

Published: May 25, 2023

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Journal: Brain : a journal of neurology

Published: August 26, 2022

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.

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.

Journal: Cancers

Published: April 12, 2022

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 02, 2022

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Journal: European journal of public health

Published: February 15, 2022

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2022

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: November 01, 2021

Showing 1-12 of 284

Last Updated: 09/26/2026