Victor Murcia Pienkowski

91PUBLICATIONS
283CO-AUTHORS
Cancer geneticsNeonatologyCell and nuclear divisionNeurology and neuromuscular diseasesAutonomic nervous system
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Publications (91)

|Jul 09, 2026
TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

|Feb 16, 2026
Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Aleksandra Świeca, Małgorzata Rydzanicz, Rafal Ploski

|Feb 05, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Charlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski

|Jan 10, 2026
PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

Natasza Blek, Mikołaj Pielas, Volodymyr Kharytonov

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|Sep 26, 2025
A sensory and motor neuropathy caused by a genetic variant of NAMPT.

Zhe Zhang, Jacek Pilch, Samuel Lundt

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Frequent Collaborators

23 joint publications

Małgorzata Rydzanicz

11 joint publications

Krzysztof Szczałuba

10 joint publications

Robert Smigiel

7 joint publications

Mateusz Biela