Archivio Resource

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Taha, I., Minelli, A.+3

Case Report: Hermansky–Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis

Giulianelli, G., Bernardinello, N.+4

Citywide premarital genomic screening in a Middle Eastern population

Alblooshi, K., Sharaf, R.+2

STAG1: Bridging the Gap Between Cohesin Complex and Epigenetic Machinery

Palazzotti, T., Marchetti, G. B.+8

Novel NFIX variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.

Minerva, M., Pinto, A. M.+20

Genomic characterization of resistant and relapsed adult B-cell acute lymphoblastic leukemia

Płotka, A., Marcinkowska-Swojak, M.+2

Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63

Argirò, A., Zampieri, M.+6

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature

Privitera, F., Pagano, S.+8

Distinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors

Rowe, I., Corea, F.+2

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder

Giorlandino, C., K.Margiotti, M.Fabiani+1

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review

Politano, D., Borgatti, R.+30

Identification of Candidate Genes for Endometriosis in a Three-Generation Family with Multiple Affected Members Using Whole-Exome Sequencing

Lintas, C.; Azzarà, A.; Panasiti, V.; Gurrieri+1

Focal High-Grade Areas with a Tumor-in-Tumor Pattern: Another Feature of Pediatric DICER1-Associated Thyroid Carcinoma?

Schiavo Lena, M., Sánchez-Ares, M.+2

Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis

Lintas, C.; Petti, R. ; Colella, G.; Cassano+7

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

Bernardinelli, E., Liuni, R.+2

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

Comisi, F., Fusco, C.+11

Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review

Pasquetti, D.; Tesolin, P.; Perino, F.; Zampieri+5

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

Mauri, A., Berardo, C.+18

MET is a new confirmed gene responsible for familial distal arthrogryposis

Maffeo, D., Carrer, A.+12

Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)

Lázaro-Guevara JM, Flores-Robles BJ, Garrido-Lopez KM, McKeown RJ+9

Unravelling the molecular basis of Alzheimer’s disease and Frontotemporal dementia: genetic and epigenetic approach through Next Generation Sequencing and OpenArray technologies

Sorrentino, F.

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Mellone S, Bertelli E, Roviglione B, Vurchio D+6

High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis

Tesolin, P. et al.

Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder

Privitera, F.; Trusso, M. A.; Valentino, F.; Doddato+10

Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer’s Disease and Lewy Body Dementia

Palmieri, I., Poloni, T. E.+18

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management

Goudal, A. et al.

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma

Tibiletti, M. G. et al.

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Doddato, G.; Fabbiani, A.; Scandurra, V.; Canitano+4

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency

Sirchia, F., Giorgio, E.+5

Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes

Kohaar, I.; Zhang, X.; Tan, SH. et al.

Decellularized Normal and Tumor Extracellular Matrix as Scaffold for Cancer Organoid Cultures of Colorectal Peritoneal Metastases

Varinelli, L., Guaglio, M.+17

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

Morgan, A.; Faletra, F.; Severi, G.; La Bianca+5

Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly

Elli, F.M.; Mattinzoli, D.; Lucca, C.; Piu+8

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge

Brancaccio, M.; Mennitti, C.; Cesaro, A.; Monda+8

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

Tesolin, P.; Fiorino, S.; Lenarduzzi, S.; Rubinato+8

Clinical population genetic analysis of variants in the SARS-CoV-2 receptor ACE2

Doddato, Gabriella et al.

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene

Tesolin, P.; Morgan, A.; Notarangelo, M.; Ortore+4

Transcript-Level Dysregulation of BCL2 Family Genes in Acute Myeloblastic Leukemia

Handschuh, L.; Wojciechowski, P.; Kazmierczak, M. and Lewandowski+1

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia

Zanni, G.; D’Abrusco, F.; Nicita, F. et al.

Mutational and immunogenetic landscape of HCV-associated B-cell lymphoproliferative disorders

Defrancesco, I. et al.

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Doddato, G., Valentino, F.+17

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

Palmieri, I.; Valente, M.; Farina, L.M.; Gana+8

Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Antonaci, F., Ravaglia, S.+7

Different miRNA Profiles in Plasma Derived Small and Large Extracellular Vesicles from Patients with Neurodegenerative Diseases

Sproviero, Daisy, et al.

One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey

D'Argenio, V.; Cariati, F.; Tomaiuolo, R.

A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Agakidou, E., Agakidis, C.+11

NGS sequencing proves as a powerful method to perform differential diagnosis in patients with inactivating PTH/PTHrP signaling disorders (iPPSD)

Elli, F. M.; Maffini, M. A.; Costanza, J.; Fontana+3

A genetic analysis of a Spanish population with early onset Parkinson’s disease

Tejera-Parrado, C., Perinán, M.T.+17

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype

Peron, A.; Novara, F.; La Briola, F.; Merati+8

A novel mutation in the stalk domain of KIF5A causes a slowly progressive atypical motor syndrome.

Filosto, M., Piccinelli, S.C.+15