Concepedia
Statistics
Publications
53
Citations
2K
H-Index
25
Active since
2001
Affiliations
Wroclaw Medical University(Current)
Medical University of Warsaw
Inserm
Poznan University of Medical Sciences
Radboud University Medical Center
Robert Śmigiel is an author at Wroclaw Medical University specializing in medicine, pathology, and genetics.
Top concepts
MedicinePathologyGeneticsNeurogeneticsClinical GeneticsGenetic EpidemiologyDevelopmental BiologyCell BiologyCancer GeneticsCancer Research
Publications per year
2001–2023
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations
Genetics, Genetic Epidemiology, Pathology +20
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations
Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text
CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel · Brain Sciences · 2020 · 92 citations · Full text
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd et al. · Journal of Clinical Medicine · 2020 · 77 citations · Full text
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