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Author Details

Francesca Mari
Institute de Pathologie et de Genetique ASBL
2000
156
40
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
36721056Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.Eur J Hum Genet2024
35881528Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.Braz J Psychiatry2023
37497751Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.J Glob Health2023
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
36745127Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2023
36793121Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.J Hematol Oncol2023
34964709The polymorphism L412F in <i>TLR3</i> inhibits autophagy and is a marker of severe COVID-19 in males.Autophagy2022
35405010The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.Hum Mol Genet2022
35579625Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2022
35470444Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.Clin Genet2022
35861666Natural history of KBG syndrome in a large European cohort.Hum Mol Genet2022
36198805The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe.Eur J Hum Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
34952932Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.Genes Immun2022
34889978Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.Hum Genet2022
35066644A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.Neurol Sci2022
34930753Guidelines for Genetic Testing and Management of Alport Syndrome.Clin J Am Soc Nephrol2022
33368194IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Clin Genet2021
33854215Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.Eur J Hum Genet2021
33650967Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.Elife2021
33921689Protective Role of a <i>TMPRSS2</i> Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.Genes (Basel)2021
33578439Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.Neuropediatrics2021
34948243New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.Int J Mol Sci2021
34399825SELP Asp603Asn and severe thrombosis in COVID-19 males.J Hematol Oncol2021
3457330013q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor Delay.Genes (Basel)2021
34485163Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.Front Oncol2021
34680999Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics.Genes (Basel)2021
34203982Severe COVID-19 in Hospitalized Carriers of Single <i>CFTR</i> Pathogenic Variants.J Pers Med2021
34356170Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.Brain Sci2021
30735726MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.Eur J Med Genet2020
33242881Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Brain2020
33206719Clinical and molecular characterization of COVID-19 hospitalized patients.PLoS One2020
32658972SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.Brain2020
30427563Evidence of predisposing epimutation in retinoblastoma.Hum Mutat2019
30190612Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.Genet Med2019
29987460Expert consensus guidelines for the genetic diagnosis of Alport syndrome.Pediatr Nephrol2019
30808327Non-collagen genes role in digenic Alport syndrome.BMC Nephrol2019
31049350Analysis of the Phenotypes in the Rett Networked Database.Int J Genomics2019
29194067Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.Clin Dysmorphol2018
29730163iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.Exp Cell Res2018
29300384Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Genet Med2018
29098738Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.Hum Mutat2018
27190345Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.Nephrol Dial Transplant2017
27749392Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.Clin Dysmorphol2017
27859054Alport syndrome: impact of digenic inheritance in patients management.Clin Genet2017
25966633Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.Eur J Hum Genet2016
26490184MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.J Hum Genet2016
27623250Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.Mol Genet Metab2016
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Collaborators

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University of Siena
Co-authored papers 143
Simone Furini
Department of Medical Biotechnologies, University of Siena
Co-authored papers 20
Marzia Pollazzon
Azienda USL-IRCCS di Reggio Emilia
Co-authored papers 11
Angelo Selicorni
Co-authored papers 7
Bruno Dallapiccola
Co-authored papers 4
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Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 4
Romano Tenconi
Co-authored papers 4
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IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 3
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University of Washington
Co-authored papers 2
Eva C Schulte
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital
Co-authored papers 2
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Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Jessica Giordano
Columbia University Irving Medical Center
Co-authored papers 2
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John Kenneth Baillie
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Kerstin U Ludwig
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Axel Schmidt
Institute of Human Genetics, University Hospital Bonn
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Flora M Vaccarino
Co-authored papers 2
Claire Beneteau
Hopital Universitaire de Nantes
Co-authored papers 2
Ronald J Wapner
Columbia University
Co-authored papers 2
Laura Mazzanti
Co-authored papers 2
Robert Frithiof
Uppsala University
Co-authored papers 2
Guillaume Butler-Laporte
McGill University
Co-authored papers 2
Miklos Lipcsey
Uppsala University
Co-authored papers 2
Michael Hultstr??m
Uppsala University
Co-authored papers 2
John Brent Richards
Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 2
Anneke T Vulto-van Silfhout
Radboud University Medical Center
Co-authored papers 2
Han G Brunner
Maastricht University Medical Centre
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Alexandre Bolze
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Release 1.2