A. Renieri

VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.
20260 citationsauthor #54
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders
20251 citationsauthor #19
Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations
20250 citationsauthor #9
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
20252 citationsauthor #51
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
20240 citationsauthor #14
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
20241 citationsauthor #17
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
20245 citationsauthor #14
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males
202314 citationsauthor #56
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
202313 citationsauthor #15
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
202318 citationsauthor #218
The Medical Community’s Role in Communication Strategies during Health Crises—Perspective from European Union of Medical Specialists (UEMS)
20232 citationsauthor #8
Correction: The 2019 and 2021 International workshops on Alport syndrome
20231 citationsauthor #26
Effects of the Rho GTPase‐activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study
20232 citationsauthor #11
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey
20233 citationsauthor #11
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
202320 citationsauthor #21
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males
20230 citationsauthor #22
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
202311 citationsauthor #8
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
202316 citationsauthor #52
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions
20236 citationsauthor #42
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
20239 citationsauthor #199
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases
202349 citationsauthor #7
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
20230 citationsauthor #8
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease Model
20235 citationsauthor #10
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
20230 citationsauthor #17
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
20237 citationsauthor #10
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
20232 citationsauthor #16
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
20234 citationsauthor #11
Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe
20230 citationsauthor #4
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
20234 citationsauthor #11
A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
20236 citationsauthor #29
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
202311 citationsauthor #148
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
20230 citationsauthor #32
Genome-wide association study of long COVID
202353 citationsauthor #56
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
20230 citationsauthor #11
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
20238 citationsauthor #23
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
20232 citationsauthor #6
TLRs: Innate Immune Sentries against SARS-CoV-2 Infection
202347 citationsauthor #4
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders
20230 citationsauthor #11
Breast cancer in patients with Lynch syndrome: A single institution retrospective analysis.
20230 citationsauthor #9
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
20231 citationsauthor #11
Natural history of KBG syndrome in a large European cohort
202222 citationsauthor #58
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
202214 citationsauthor #13
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy
202223 citationsauthor #7
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases
202213 citationsauthor #79
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
202210 citationsauthor #6
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
20224 citationsauthor #11
Geographical distribution of cystic fibrosis carriers as population genetic determinant of COVID-19 spread and fatality in 37 countries
20228 citationsauthor #2
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
20224 citationsauthor #12
Pathogen-sugar interactions revealed by universal saturation transfer analysis
202247 citationsauthor #29
An explainable model of host genetic interactions linked to COVID-19 severity
20228 citationsauthor #201
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
20225 citationsauthor #17
Predictive genetic testing for Motor neuron disease: time for a guideline?
20229 citationsauthor #10
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
20228 citationsauthor #13
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
20222 citationsauthor #36
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma
202212 citationsauthor #9
Host genetic basis of COVID-19: from methodologies to genes
202219 citationsauthor #5
The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe
202214 citationsauthor #4
Novel genes and sex differences in COVID-19 severity
202251 citationsauthor #140
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
202229 citationsauthor #16
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
202252 citationsauthor #156
Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome
202223 citationsauthor #77
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
20228 citationsauthor #21
The 2019 and 2021 International Workshops on Alport Syndrome
202227 citationsauthor #26
Digenic Alport Syndrome.
202238 citationsauthor #2
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
20221 citationsauthor #8
Development and Implementation of the AIDA International Registry for Patients With Still's Disease
202222 citationsauthor #51
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022426 citationsauthor #40
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity
202219 citationsauthor #12
COVID-19: a challenge and an opportunity
20222 citationsauthor #1
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
20228 citationsauthor #47
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
202111 citationsauthor #206
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
202140 citationsauthor #21
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
202180 citationsauthor #193
Post-Mendelian genetic model in COVID-19
202117 citationsauthor #29
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
20212 citationsauthor #32
An atypical case of spastic paraplegia type 11 mimicking a GM2 gangliosidoses
20210 citationsauthor #6
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
202115 citationsauthor #7
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
2021143 citationsauthor #23
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants
202122 citationsauthor #24
Fostering Students’ Problem-Solving Skills Through Educational Robotics in Primary School
202114 citationsauthor #3
Mapping the human genetic architecture of COVID-19
2021123 citationsauthor #296
Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity
20215 citationsauthor #11
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
20215 citationsauthor #11
JNK signaling provides a novel therapeutic target for Rett syndrome
20215 citationsauthor #7
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
202157 citationsauthor #21
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
20210 citationsauthor #193
A new mutation in DNM2 gene in a large Italian family
20212 citationsauthor #8
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
20210 citationsauthor #206
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
202149 citationsauthor #38
Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome—Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network
20218 citationsauthor #26
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
20211 citationsauthor #75
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
202192 citationsauthor #35
The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
20210 citationsauthor #26
Identification of a molecular cause of a neurodevelopmental disorder
20210 citationsauthor #18
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
202146 citationsauthor #11
An explainable model of host genetic interactions linked to COVID-19 severity
20210 citationsauthor #8
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
202121 citationsauthor #38
Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry.
202110 citationsauthor #25
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
202132 citationsauthor #20
Introducing the COVID-19 crisis Special Education Needs Coping Survey
20214 citationsauthor #44

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