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Author Details

Alessandra Renieri
University of Siena
1984
362
55
PMIDPaper TitleJournal TitlePublished Year
36755106Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe.Eur J Hum Genet2024
37850268HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19.HLA2024
36653516Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.Eur J Hum Genet2024
36721056Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.Eur J Hum Genet2024
36690832Correction: The 2019 and 2021 International workshops on Alport syndrome.Eur J Hum Genet2024
36732665Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.Eur J Hum Genet2024
35881528Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.Braz J Psychiatry2023
38021086A Reverse Shoulder Arthroplasty Implantation With Custom-Made Humerus and Intraoperative GPS Navigation in a Rare Case of Unilateral Hip and Shoulder Dysplasia Associated With a Bone Marrow Mosaic <i>PTEN</i> Truncating Variant: Case Report.J Shoulder Elb Arthroplast2023
37489391The Medical Community's Role in Communication Strategies during Health Crises-Perspective from European Union of Medical Specialists (UEMS).Infect Dis Rep2023
37662840Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.Front Genet2023
37628684Liver Involvement in Patients with Rare <i>MBOAT7</i> Variants and Intellectual Disability: A Case Report and Literature Review.Genes (Basel)2023
37551667Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.Genet Med2023
37992053Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.PLoS One2023
37572667CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.Cell Rep Med2023
37497751Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.J Glob Health2023
37761403Natural Course of <i>IQSEC2</i>-Related Encephalopathy: An Italian National Structured Survey.Children (Basel)2023
37186408Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.Epileptic Disord2023
37048050An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with <i>IQSEC2</i>-Related Neural Disorder: A Possible New Cell-Based Disease Model.Cells2023
37078409Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.J Cell Mol Med2023
37175768TLRs: Innate Immune Sentries against SARS-CoV-2 Infection.Int J Mol Sci2023
37072449Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders.Sci Rep2023
36999555YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.Genet Med2023
36747006The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.Eur J Hum Genet2023
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
36761000Corrigendum: Spondyloocular syndrome: A novel <i>XYLT2</i> variant with description of the neonatal phenotype.Front Genet2023
36795150Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2023
36662445VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.Intern Emerg Med2023
36493725Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.EBioMedicine2023
36793121Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.J Hematol Oncol2023
36210549Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.Am J Med Genet A2023
35979925CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.Brain2023
34216549The Phenomenon of Multidrug Resistance in Glioblastomas.Hematol Oncol Stem Cell Ther2022
35807022Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.J Clin Med2022
35708486Novel genes and sex differences in COVID-19 severity.Hum Mol Genet2022
35675912Digenic Alport Syndrome.Clin J Am Soc Nephrol2022
35379930Predictive genetic testing for Motor neuron disease: time for a guideline?Eur J Hum Genet2022
35405010The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.Hum Mol Genet2022
35835955COVID-19: a challenge and an opportunity.Eur J Hum Genet2022
35470444Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.Clin Genet2022
35463015Development and Implementation of the AIDA International Registry for Patients With Still's Disease.Front Med (Lausanne)2022
35456494Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.Genes (Basel)2022
35861666Natural history of KBG syndrome in a large European cohort.Hum Mol Genet2022
35782384<i>SPTBN5</i>, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.Front Mol Neurosci2022
35690068Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.Cell Syst2022
35746657Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19.Viruses2022
35618891Host genetic basis of COVID-19: from methodologies to genes.Eur J Hum Genet2022
36403097Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).Prenat Diagn2022
35899212Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome.Front Med (Lausanne)2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
36198805The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe.Eur J Hum Genet2022
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Collaborators

Francesca Mari
Institute de Pathologie et de Genetique ASBL
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Simone Furini
Department of Medical Biotechnologies, University of Siena
Co-authored papers 33
Marzia Pollazzon
Azienda USL-IRCCS di Reggio Emilia
Co-authored papers 12
Frances Flinter
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 8
Bruno Dallapiccola
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Guillaume Butler-Laporte
McGill University
Co-authored papers 7
John Brent Richards
Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 6
Angelo Selicorni
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Charles E Schwartz
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Eva C Schulte
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital
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Kerstin U Ludwig
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Robert Frithiof
Uppsala University
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Jill Clayton-Smith
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Daniele Prati
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Bert B A de Vries
Radboud University Medical Center
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John Kenneth Baillie
Roslin Institute, University of Edinburgh
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Andrea Martinuzzi
Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Centre
Co-authored papers 4
Alexandre Reymond
Co-authored papers 4
Andrea Ganna
Institute for Molecular Medicine Finland (FIMM), University of Helsinki
Co-authored papers 4
Giovanni Battista Ferrero
Co-authored papers 4
Vincent Mooser
McGill University
Co-authored papers 4
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 3
Stefano Duga
Co-authored papers 3
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 3
Cindy Skinner
Co-authored papers 3
Krzysztof Kiryluk
Columbia University
Co-authored papers 3
Hubert J M Smeets
Maastricht University Medical Centre+
Co-authored papers 3
Romano Tenconi
Co-authored papers 3
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