Robert Smigiel

29PUBLICATIONS
130CO-AUTHORS
Child and adolescent developmentCancer geneticsInfant and child healthNeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (29)

|Sep 26, 2026
Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4-7 Copy-Number Gain: A Case Report.

|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

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Frequent Collaborators

10 joint publications

Rafal Ploski

5 joint publications

Mateusz Biela

5 joint publications

Małgorzata Rydzanicz

2 joint publications

Piotr Gasperowicz