Carsten G Bönnemann

42PUBLICATIONS
327CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthNeurology and neuromuscular diseasesGene and molecular therapyEnergy generation, conversion and storage (excl. chemical and electrical)
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Publications (42)

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

|Feb 06, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

|Dec 25, 2025
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.

Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein

|Oct 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Volker Straub, Amanda R Clause, Sandra Donkervoort

|Aug 15, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Berta Estévez-Arias, Siiri Sarv, Nathalie Bonello-Palot

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Frequent Collaborators

13 joint publications

A Reghan Foley

9 joint publications

Sandra Donkervoort

8 joint publications

Payam Mohassel

7 joint publications

Volker Straub