Paola Grammatico

Pubblicazioni

Titolo	Pubblicato in	Anno
Longitudinal dynamics of SARS-CoV-2 anti–receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination	INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES	2022
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome	SCIENTIFIC REPORTS	2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior	GENETICS IN MEDICINE	2021
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature	CANCER LETTERS	2021
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X	BIOLOGY	2021
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments	DIAGNOSTICS	2021
Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti	HLA	2021
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation	JOURNAL OF MOLECULAR NEUROSCIENCE	2021
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion	EUROPEAN JOURNAL OF MEDICAL GENETICS	2020
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy	BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE	2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype	CLINICAL GENETICS	2020
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel	FRONTIERS IN ONCOLOGY	2020
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap	CLINICAL GENETICS	2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy	POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ	2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication	NEUROLOGICAL SCIENCES	2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype	AMERICAN JOURNAL OF HUMAN GENETICS	2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome	DERMATOLOGY ONLINE JOURNAL	2020
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2020
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia	GENES	2020
A single center retrospective review of patients from central italy tested for melanoma predisposition genes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2020

Ricerc@Sapienza

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