Robert Smigiel

28PUBLICATIONS
130CO-AUTHORS
Cancer geneticsInfant and child healthNeonatologyEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (28)

|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.

|Dec 11, 2025
Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.

Artur Polczyk, Ewelina Wolańska, Anna Zimny

|Nov 27, 2025
Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

Agnieszka Bargenda-Lange, Anna Jakubowska, Anna Medyńska

|Nov 27, 2025
Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 2021, 12, 1392.

Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jun 26, 2025
Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in GNB5 Gene in Child with Prader-Willi and Lodder-Merla Syndrome.

Tomasz Marczyk, Maria Libura, Beata Wikiera

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Frequent Collaborators

10 joint publications

Rafal Ploski

5 joint publications

Małgorzata Rydzanicz

4 joint publications

Mateusz Biela

2 joint publications

Piotr Gasperowicz