|
| 38030736 | Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes. | Diabetologia | 2024 |
| 37821225 | A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia. | Clin Genet | 2024 |
| 36317839 | Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing. | Am J Med Genet A | 2023 |
| 38002926 | Double Heterozygous Pathogenic Variants in the <i>LOX</i> and <i>PKD1</i> Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease. | Genes (Basel) | 2023 |
| 37658610 | Clinical heterogeneity of polish patients with KAT6B-related disorder. | Mol Genet Genomic Med | 2023 |
| 37894775 | A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe. | Int J Mol Sci | 2023 |
| 37649979 | Successful use of a phage endolysin for treatment of chronic pelvic pain syndrome/chronic bacterial prostatitis. | Front Med (Lausanne) | 2023 |
| 37937352 | Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience. | Kardiol Pol | 2023 |
| 37823753 | Cardiovascular involvement and prognosis in Loeys-Dietz syndrome. | Kardiol Pol | 2023 |
| 37761962 | Epigenetic Findings in Twins with Esophageal Atresia. | Genes (Basel) | 2023 |
| 37350786 | Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation. | Front Microbiol | 2023 |
| 37053215 | Non-allergic eye rubbing is a major behavioral risk factor for keratoconus. | PLoS One | 2023 |
| 36980834 | Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis. | Genes (Basel) | 2023 |
| 37445604 | Gender Influences Gut Microbiota among Patients with Irritable Bowel Syndrome. | Int J Mol Sci | 2023 |
| 37239332 | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients. | Genes (Basel) | 2023 |
| 37296768 | <i>DCDC2</i>-Related Ciliopathy: Report of Six Polish Patients, Novel <i>DCDC2</i> Variant, and Literature Review of Reported Cases. | Diagnostics (Basel) | 2023 |
| 36816046 | Case report: Variants in the <i>ERCC4</i> gene as a rare cause of cerebellar ataxia with chorea. | Front Genet | 2023 |
| 36811882 | The Impaired Wound Healing Process Is a Major Factor in Remodeling of the Corneal Epithelium in Adult and Adolescent Patients With Keratoconus. | Invest Ophthalmol Vis Sci | 2023 |
| 36674989 | Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact. | Int J Mol Sci | 2023 |
| 36758444 | Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants. | Epilepsy Res | 2023 |
| 36336956 | A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia. | Hum Mol Genet | 2023 |
| 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study. | Genet Med | 2023 |
| 35078481 | Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections. | J Transl Med | 2022 |
| 35773178 | Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis. | Pancreatology | 2022 |
| 35409030 | Identification and In Silico Characterization of a Novel <i>COLGALT2</i> Gene Variant in a Child with Mucosal Rectal Prolapse. | Int J Mol Sci | 2022 |
| 35398773 | Overlapping association signals in the genetics of hair-related phenotypes in humans and their relevance to predictive DNA analysis. | Forensic Sci Int Genet | 2022 |
| 35664801 | Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor. | Front Oncol | 2022 |
| 35627110 | Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene. | Genes (Basel) | 2022 |
| 35861300 | Expanding the phenotype of DNAJC30-associated Leigh syndrome. | Clin Genet | 2022 |
| 35690331 | Postzygotic mutations and where to find them - Recent advances and future implications in the field of non-neoplastic somatic mosaicism. | Mutat Res Rev Mutat Res | 2022 |
| 35418820 | Aicardi-Goutières Syndrome due to a <i>SAMHD1</i> Mutation Presenting with Deep White Matter Cysts. | Mol Syndromol | 2022 |
| 35778651 | Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. | Mol Genet Genomics | 2022 |
| 35589511 | Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene. | Pancreatology | 2022 |
| 36589157 | Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights. | Front Pediatr | 2022 |
| 35971028 | Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants. | J Appl Genet | 2022 |
| 36368327 | TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. | Am J Hum Genet | 2022 |
| 35932201 | A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody. | Transfusion | 2022 |
| 36302535 | Independent association of FTO rs9939609 polymorphism with overweight and obesity in Polish adults. Results from the representative population-based WOBASZ study. | J Physiol Pharmacol | 2022 |
| 36232726 | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel <i>VPS33A</i> Variant with Comparison with Other Described Patients. | Int J Mol Sci | 2022 |
| 35893076 | Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <i>DYNC2H1</i> Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. | Genes (Basel) | 2022 |
| 36125428 | Destabilization of mutated human PUS3 protein causes intellectual disability. | Hum Mutat | 2022 |
| 35884979 | Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing. | Biomedicines | 2022 |
| 36011335 | Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients. | Genes (Basel) | 2022 |
| 35016003 | iPSC-derived myelinoids to study myelin biology of humans. | Dev Cell | 2022 |
| 35255187 | FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood. | Mol Genet Genomic Med | 2022 |
| 34906456 | Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. | Genet Med | 2022 |
| 35205213 | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation. | Genes (Basel) | 2022 |
| 35112464 | Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. | Am J Med Genet A | 2022 |
| 34929359 | The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19. | Int J Infect Dis | 2022 |
| 32278775 | Acute liver failure due to DGUOK deficiency-is liver transplantation justified? | Clin Res Hepatol Gastroenterol | 2021 |