Alessandro De Luca
Reproducibility track record
1
assessed papers
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mean reproducibility
0
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
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Funders
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Frequent co-authors
Mohammad Reza Ahmadian 1Torsten Merbitz-Zahradnik 1Bruno Dallapiccola 1Georg Rosenberger 1Marco Tartaglia 1Lothar Gremer 1Kerstin Kutsche 1Susanne Morlot 1
Institutions
Düsseldorf University Hospital 1Heinrich Heine University Düsseldorf 1Casa Sollievo della Sofferenza 1Istituti di Ricovero e Cura a Carattere Scientifico 1Praxis 1Istituto Superiore di Sanità 1
Geography (author institutions)
DE 1IT 1EE 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (204)
Request a reproduction →1 assessed by us (0 reproduced) · 203 not yet assessed — every PubMed paper on record, linked below.
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The 9th International <scp>RASopathies</scp> Symposium ↗American Journal of Medical Genetics Part A · 2026 · PMID 41834696not yet assessed
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Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions ↗The Cerebellum · 2026 · PMID 41838234not yet assessed
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The Genesis and Early Dispersion of the Black Death in 14th-Century Italy: Unveiling the First Archaeological Evidence of Plague Victims in Liguria ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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The Genesis and Early Dispersion of the Black Death in 14th-Century Italy: Unveiling the First Archaeological Evidence of Plague Victims in Liguria ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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Neural Synchronization Abnormalities in Cognitive Impairment: A Comparative EEG Study of Alzheimer's and Parkinson's Diseases ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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Neural Synchronization Abnormalities in Cognitive Impairment: A Comparative EEG Study of Alzheimer's and Parkinson's Diseases ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
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Down-Regulation of Ephrin-B1 in Left Ventricular Non-Compaction ↗Journal of Biomedical Research & Environmental Sciences · 2026not yet assessed
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Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant ↗Stem Cell Research · 2026 · PMID 42269329not yet assessed
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Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2–Let-7g–LIN28 axis with rescue by epigenetic modulators ↗Cell Death and Differentiation · 2026 · PMID 42463580not yet assessed
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Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive Review ↗Diagnostics · 2025 · PMID 40002616not yet assessed
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Multidisciplinary Treatment of Patients With Noonan Syndrome ↗JAMA Network Open · 2025 · PMID 41091474not yet assessed
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Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia ↗Pediatric Pulmonology · 2025 · PMID 40183288not yet assessed
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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer ↗The Breast · 2025 · PMID 41218342not yet assessed
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Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation ↗Stem Cell Research · 2025 · PMID 40311325not yet assessed
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AN UNUSUAL CASE OF RIGHT BUNDLE BRANCH BLOCK: THE IMPORTANCE OF AN ACCURATE ELECTROCARDIOGRAPHIC ANALYSIS IN THE DIAGNOSTIC DEFINITION ↗European Heart Journal Supplements · 2025not yet assessed
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Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A ↗Stem Cell Research · 2025 · PMID 40886547not yet assessed
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Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome ↗Research Square · 2025not yet assessed
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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗UNC Libraries · 2025not yet assessed
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant ↗European Journal of Human Genetics · 2024 · PMID 38824260not yet assessed
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Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs ↗Genes · 2024 · PMID 39858575not yet assessed
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis ↗European Journal of Human Genetics · 2024 · PMID 38824261not yet assessed
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules ↗Genetics in Medicine · 2024 · PMID 39140257not yet assessed
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Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease ↗Biomedicines · 2024 · PMID 38791022not yet assessed
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Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease ↗Preprints.org · 2024not yet assessed
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THE HEART‘S ABILITY TO "SELF–DEFIBRILLATE": A SPECIAL CASE OF IDIOPATHIC VENTRICULAR TACHYCARDIA ↗European Heart Journal Supplements · 2024not yet assessed
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Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region ↗Stem Cell Research · 2024 · PMID 39260069not yet assessed
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Time-dependent networks for the treatment of acute coronary syndrome in South East Tuscany ↗European Journal of Public Health · 2024not yet assessed
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Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey ↗World Journal of Emergency Surgery · 2023 · PMID 36597105not yet assessed
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FOXI3 pathogenic variants cause one form of craniofacial microsomia ↗Nature Communications · 2023 · PMID 37041148not yet assessed
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Time for a paradigm shift in shared decision-making in trauma and emergency surgery? Results from an international survey ↗World Journal of Emergency Surgery · 2023 · PMID 36803568not yet assessed
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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome ↗European Journal of Human Genetics · 2023 · PMID 36599940not yet assessed
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Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells ↗American Journal of Medical Genetics Part A · 2023 · PMID 36598152not yet assessed
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Early genetic analysis by next‐generation sequencing improves diagnosis of primary ciliary dyskinesia ↗Pediatric Pulmonology · 2023 · PMID 37477497not yet assessed
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Cervical dystonia following brain tumor: description of an unreported case and a systematic review of literature ↗Acta Neurologica Belgica · 2023 · PMID 36630079not yet assessed
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Further case of enlarged spinal nerve roots in <i>KRAS</i> ‐related Noonan syndrome ↗Clinical Genetics · 2023 · PMID 36757675not yet assessed
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A novel ANO3 variant in two siblings with different phenotypes ↗Parkinsonism & Related Disorders · 2023 · PMID 37116293not yet assessed
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Correction: Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey ↗World Journal of Emergency Surgery · 2023 · PMID 36959605not yet assessed
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The HELLP syndrome: clinical issues and surgical management. A Case Experience. ↗PubMed · 2023 · PMID 37724665not yet assessed
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Neither inguinoscrotal hernia nor hydrocele misunderstood giant testicular neoplasm. Case report and literature review. ↗PubMed · 2023 · PMID 37724661not yet assessed
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Novel Genetic Systemic Obstructive Microvascular Dysplasia ↗Preprints.org · 2023not yet assessed
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Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation ↗Journal of Clinical Medicine · 2023 · PMID 38002762not yet assessed
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Lactobacillus crispatus M247 oral administration: Is it really an effective strategy in the management of papillomavirus-infected women? ↗Infectious Agents and Cancer · 2022 · PMID 36271433not yet assessed
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A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series ↗Diagnostics · 2022 · PMID 36611340not yet assessed
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Evolving Trends in the Management of Acute Appendicitis During COVID‐19 Waves: The ACIE Appy II Study ↗World Journal of Surgery · 2022 · PMID 35810215not yet assessed
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Endocrine system involvement in patients with RASopathies: A case series ↗Frontiers in Endocrinology · 2022 · PMID 36483002not yet assessed
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Sliding ureteral inguinal hernia ↗International Journal of Surgery Case Reports · 2022 · PMID 35429782not yet assessed
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“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats ↗Journal of Personalized Medicine · 2022 · PMID 35055435not yet assessed
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Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein ↗Stem Cell Research · 2022 · PMID 35714448not yet assessed
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A rare case of subcutaneous traumatic index finger both extensor tendons rupture. Results of WALANT extensor digiti minimi transfer and literature review. ↗PubMed · 2022 · PMID 35604254not yet assessed
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Correction: Evolving Trends in the Management of Acute Appendicitis During COVID‐19 Waves: The ACIE Appy II Study ↗World Journal of Surgery · 2022 · PMID 36273052not yet assessed
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype ↗The American Journal of Human Genetics · 2021 · PMID 34626534not yet assessed
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When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort ↗Genetics in Medicine · 2021 · PMID 33568805not yet assessed
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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) ↗International Journal of Molecular Sciences · 2021 · PMID 33530447not yet assessed
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Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity ↗Orphanet Journal of Rare Diseases · 2021 · PMID 34600590not yet assessed
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A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT) ↗International Journal of Molecular Sciences · 2021 · PMID 33567536not yet assessed
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Clinical variability of neurofibromatosis 1: A modifying role of cooccurring <scp> <i>PTPN11</i> </scp> variants and atypical brain <scp>MRI</scp> findings ↗Clinical Genetics · 2021 · PMID 34346503not yet assessed
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Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights ↗Genes · 2021 · PMID 34356063not yet assessed
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Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects ↗Clinical Genetics · 2021 · PMID 33988253not yet assessed
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RASopathies and hemostatic abnormalities: key role of platelet dysfunction ↗Orphanet Journal of Rare Diseases · 2021 · PMID 34857025not yet assessed
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External hydrocephalus as a prenatal feature of noonan syndrome ↗Annals of Human Genetics · 2021 · PMID 34075583not yet assessed
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Novel Dilated Cardiomyopathy Associated to <i>Calreticulin</i> and <i>Myo7A</i> Gene Mutation in Usher Syndrome ↗ESC Heart Failure · 2021 · PMID 33835720not yet assessed
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Enlarged spinal nerve roots in RASopathies: Report of two cases ↗European Journal of Medical Genetics · 2021 · PMID 33676063not yet assessed
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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis ↗BMC Medical Genomics · 2021 · PMID 33766032not yet assessed
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Genotype-phenotype correlation in a group of patients with primary ciliary dyskinesia in Italy ↗2021not yet assessed
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Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity ↗Research Square · 2021not yet assessed
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ↗The American Journal of Human Genetics · 2020 · PMID 32721402not yet assessed
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The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting ↗International Journal of Environmental Research and Public Health · 2020 · PMID 32764417not yet assessed
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DNA Methylation in the Diagnosis of Monogenic Diseases ↗Genes · 2020 · PMID 32224912not yet assessed
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Azidothymidine “Clicked” into 1,2,3-Triazoles: First Report on Carbonic Anhydrase–Telomerase Dual-Hybrid Inhibitors ↗Journal of Medicinal Chemistry · 2020 · PMID 32463228not yet assessed
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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome ↗The American Journal of Human Genetics · 2020 · PMID 33058759not yet assessed
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Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature ↗Diagnostics · 2020 · PMID 32806529not yet assessed
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications ↗European Journal of Human Genetics · 2020 · PMID 32788663not yet assessed
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Martsolf syndrome with novel mutation in the <i>TBC1D20</i> gene in a family from Iran ↗American Journal of Medical Genetics Part A · 2020 · PMID 32162791not yet assessed
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Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia ↗Journal of the American Medical Directors Association · 2020 · PMID 32241566not yet assessed
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CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita ↗Frontiers in Neurology · 2020 · PMID 32117024not yet assessed
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Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East ↗Genetics in Medicine · 2020 · PMID 32661355not yet assessed
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered ↗European Journal of Human Genetics · 2020 · PMID 33082526not yet assessed
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Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the <i>EVC</i> gene ↗Human Mutation · 2020 · PMID 32906221not yet assessed
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Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes ↗Familial Cancer · 2020 · PMID 33210232not yet assessed
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Heterozygous nonsense <i>ARX</i> mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance ↗Molecular Genetics & Genomic Medicine · 2020 · PMID 32519823not yet assessed
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Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair ↗BMC Medical Genetics · 2020 · PMID 32303186not yet assessed
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Neonatal Marfan Syndrome by Inherited Mutation ↗The Indian Journal of Pediatrics · 2020 · PMID 32557139not yet assessed
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Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 ↗Human Mutation · 2019 · PMID 31595648not yet assessed
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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 ↗Orphanet Journal of Rare Diseases · 2019 · PMID 31730495not yet assessed
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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging ↗The American Journal of Human Genetics · 2019 · PMID 31447100not yet assessed
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ↗The American Journal of Human Genetics · 2019 · PMID 31402090not yet assessed
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Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats ↗Cell Death and Disease · 2019 · PMID 31024007not yet assessed
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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease ↗Genes · 2019 · PMID 31487937not yet assessed
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Clinical and functional characterization of a novel RASopathy‐causing<i>SHOC2</i>mutation associated with prenatal‐onset hypertrophic cardiomyopathy ↗Human Mutation · 2019 · PMID 31059601not yet assessed
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A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of <i>ASCC1</i> ↗American Journal of Medical Genetics Part A · 2019 · PMID 31880396not yet assessed
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Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) ↗Stem Cell Research · 2019 · PMID 31493762not yet assessed
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature ↗European Journal of Human Genetics · 2019 · PMID 30809043not yet assessed
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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants ↗Human Molecular Genetics · 2019 · PMID 30806661not yet assessed
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Osteoporosis in male patients: Epidemiology, clinical aspects and DEXA Scan assessment2019not yet assessed
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Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome ↗The Journal of Pediatrics · 2019 · PMID 31843215not yet assessed
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Shagreen-patch in a NF1 patient with a new missense mutation ↗Giornale Italiano di Dermatologia e Venereologia · 2019 · PMID 29368848not yet assessed
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Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis ↗The Lancet Neurology · 2018 · PMID 30243861not yet assessed
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗Genetics in Medicine · 2018 · PMID 30190611not yet assessed
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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog ↗Clinical Genetics · 2018 · PMID 29722020not yet assessed
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Heterozygous missense mutations in<i>NFATC1</i>are associated with atrioventricular septal defect ↗Human Mutation · 2018 · PMID 30007050not yet assessed
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Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study ↗BMC Medical Genetics · 2018 · PMID 30572822not yet assessed
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Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation ↗Journal of the American Heart Association · 2018 · PMID 29440008not yet assessed
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Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease ↗Stem Cell Research · 2018 · PMID 29342448not yet assessed
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Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage ↗Stem Cell Research · 2018 · PMID 29486399not yet assessed
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Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease ↗Stem Cell Research · 2018 · PMID 29704769not yet assessed
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Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier ↗PubMed · 2018 · PMID 30622840not yet assessed
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Paroxysmal Dyskinesias in a <i>PRRT2</i> Mutation Carrier ↗Tremor and Other Hyperkinetic Movements · 2018not yet assessed
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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗Genetics in Medicine · 2018not yet assessed
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not yet assessed
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Cover Image, Volume 39, Issue 10 ↗Human Mutation · 2018not yet assessed
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 ↗The American Journal of Human Genetics · 2017 · PMID 29290338not yet assessed
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Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome ↗Human Mutation · 2017 · PMID 28074573not yet assessed
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GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome ↗Human Molecular Genetics · 2017 · PMID 28973407not yet assessed
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Biallelic mutations in <i><scp>DYNC2LI1</scp></i> are a rare cause of Ellis‐van Creveld syndrome ↗Clinical Genetics · 2017 · PMID 28857138not yet assessed
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Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients ↗Archives of Oral Biology · 2017 · PMID 28433619not yet assessed
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Children with Mild CAG Repeat Expansion in HTT Gene Showing Psychiatric but not Neurological Presentation: Is It One More Shade of Huntington Disease? ↗Journal of Alzheimer’s Disease & Parkinsonism · 2017not yet assessed
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Cover Image, Volume 38, Issue 4 ↗Human Mutation · 2017not yet assessed
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Identification of a second <i><scp>HOXA2</scp></i> nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology ↗Clinical Genetics · 2016 · PMID 27503514not yet assessed
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome ↗Human Mutation · 2015 · PMID 26173643not yet assessed
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Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium ↗Human Molecular Genetics · 2015 · PMID 25908617not yet assessed
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Molecular Diversity and Associated Phenotypic Spectrum of Germline<i>CBL</i>Mutations ↗Human Mutation · 2015 · PMID 25952305not yet assessed
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Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma ↗American Journal of Medical Genetics Part A · 2015 · PMID 25846317not yet assessed
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Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene ↗Journal of Alzheimer s Disease · 2015 · PMID 26444782not yet assessed
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Molecular diversity and associated phenotypic spectrum of germline CBL mutationsOpen MIND · 2015not yet assessed
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Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy ↗Journal of Neurogenetics · 2015 · PMID 26559560not yet assessed
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis ↗Human Molecular Genetics · 2014 · PMID 24705357not yet assessed
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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas ↗European Journal of Human Genetics · 2014 · PMID 25370043not yet assessed
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Neurofibromatosis type 1 with adrenal pheochromocytoma and renal artery stenosis: an uncommon entity of arterial hypertension ↗Research · 2014not yet assessed
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<i>JAG1</i> Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot ↗American Journal of Medical Genetics Part A · 2013 · PMID 23956173not yet assessed
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Novel homozygous mutation in exon 5 of <i><scp>WFS1</scp></i> gene in an Apulian family with mild phenotypic expression of Wolfram syndrome ↗Clinical Genetics · 2013 · PMID 24117146not yet assessed
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Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis ↗European Journal of Medical Genetics · 2012 · PMID 23220543not yet assessed
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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis ↗European Journal of Medical Genetics · 2012 · PMID 23270675not yet assessed
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A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot ↗European Journal of Human Genetics · 2012 · PMID 22713807not yet assessed
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Pentalogy of Cantrell with Complete Ectopia Cordis in a Fetus with Asplenia ↗Pediatric and Developmental Pathology · 2012 · PMID 22900993not yet assessed
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Loss of <scp>CBL</scp> E3‐ligase activity in B‐lineage childhood acute lymphoblastic leukaemia ↗British Journal of Haematology · 2012 · PMID 22834886not yet assessed
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations ↗Human Mutation · 2011 · PMID 21387466not yet assessed
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Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1 ↗American Journal of Medical Genetics Part A · 2011 · PMID 21815254not yet assessed
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Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects ↗European Journal of Medical Genetics · 2011 · PMID 21276881not yet assessed
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Immunohistochemical expression of neurotrophic tyrosine kinase receptors 1 and 2 in lung carcinoma: potential discriminators between squamous and nonsquamous subtypes. ↗PubMed · 2011 · PMID 21466358not yet assessed
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Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot ↗Clinical Genetics · 2011 · PMID 22040217not yet assessed
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CArdiac Resynchronization In combination with BEta blocker treatment in advanced chronic Heart Failure (CARIBE-HF): the results of the CARIBE-HF study ↗Acta cardiologica. Supplementum · 2011 · PMID 22032050not yet assessed
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Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion ↗Neurogenetics · 2011 · PMID 21365283not yet assessed
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype ↗The American Journal of Human Genetics · 2010 · PMID 20619386not yet assessed
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New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle ↗Clinical Genetics · 2010 · PMID 20807224not yet assessed
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RASopathies: Clinical Diagnosis in the First Year of Life ↗Molecular Syndromology · 2010 · PMID 22190897not yet assessed
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Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion ↗American Journal of Medical Genetics Part A · 2010 · PMID 20503322not yet assessed
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Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. ↗PubMed · 2010 · PMID 20592452not yet assessed
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Multiplex Ligation-Dependent Probe Amplification Analysis of<i>GATA4</i>Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease ↗Disease Markers · 2010not yet assessed
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Contents Vol. 1, 2010 ↗Molecular Syndromology · 2010not yet assessed
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Familial transposition of the great arteries caused by multiple mutations in laterality genes ↗Heart · 2009 · PMID 19933292not yet assessed
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Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in <i>PTPN11</i> ↗Clinical Genetics · 2009 · PMID 19054014not yet assessed
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Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activationHuman Molecular Genetics · 2009 · PMID 19995790L1 No computation
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Founder Effects for <i>ATM</i> Gene Mutations in Italian Ataxia Telangiectasia Families ↗Annals of Human Genetics · 2009 · PMID 19691550not yet assessed
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Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man ↗International Journal of Cardiology · 2009 · PMID 19297036not yet assessed
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Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities ↗BMC Cancer · 2008 · PMID 18208621not yet assessed
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Xenografts of primary human gynecological tumors grown under the renal capsule of NOD/SCID mice show genetic stability during serial transplantation and respond to cytotoxic chemotherapy ↗Gynecologic Oncology · 2008 · PMID 18547621not yet assessed
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Loss of Heterozygosity at the <i>BRCA2</i> Locus Detected by Multiplex Ligation-Dependent Probe Amplification is Common in Prostate Cancers from Men with a Germline <i>BRCA2</i> Mutation ↗Clinical Cancer Research · 2008 · PMID 18445692not yet assessed
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Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalitiesUniversity of North Texas Digital Library (University of North Texas) · 2008not yet assessed
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Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer ↗JAMA · 2007 · PMID 17545690not yet assessed
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Frequency of the <i>TMPRSS2:ERG</i> gene fusion is increased in moderate to poorly differentiated prostate cancers ↗Journal of Clinical Pathology · 2007 · PMID 17259299not yet assessed
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Deletions of <i>NF1</i> gene and exons detected by multiplex ligation-dependent probe amplification ↗Journal of Medical Genetics · 2007 · PMID 18055911not yet assessed
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Functional analysis of splicing mutations in exon 7 of NF1gene ↗BMC Medical Genetics · 2007 · PMID 17295913not yet assessed
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Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes ↗American Journal of Medical Genetics Part A · 2007 · PMID 17366582not yet assessed
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A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells ↗Proceedings of the National Academy of Sciences · 2006 · PMID 16407111not yet assessed
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Validation of Criteria for Selective His Bundle and Para‐Hisian Permanent Pacing ↗Pacing and Clinical Electrophysiology · 2006 · PMID 17201838not yet assessed
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DHPLC Screening of <i>ATM</i> Gene in Italian Patients Affected by Ataxia‐Telangiectasia: Fourteen Novel <i>ATM</i> Mutations ↗Disease Markers · 2006 · PMID 17124347not yet assessed
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Combinatorial Sequencing-by-Hybridization: Analysis of the <i>NF1</i> Gene ↗Genetic Testing · 2006 · PMID 16544997not yet assessed
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“Molecular Testing in Neurofibromatosis type 1 (NF1) mutational spectrum, patterns of reccurrence and correlation with clinical features in Italy”2006not yet assessed
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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome ↗The American Journal of Human Genetics · 2005 · PMID 16380919not yet assessed
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MDM2 protein expression is a negative prognostic marker in breast carcinoma ↗Modern Pathology · 2005 · PMID 16258514not yet assessed
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Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas ↗Human Mutation · 2005 · PMID 16088908not yet assessed
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Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia ↗Human Mutation · 2004 · PMID 15532024not yet assessed
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Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1 ↗Human Mutation · 2004 · PMID 15146469not yet assessed
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Variations in the NMDA receptor subunit 2B gene (<i>GRIN2B</i>) and schizophrenia: A case‐control study ↗American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2004 · PMID 15211626not yet assessed
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Identification of Type A, B, E, and F Botulinum Neurotoxin Genes and of Botulinum Neurotoxigenic Clostridia by Denaturing High-Performance Liquid Chromatography ↗Applied and Environmental Microbiology · 2004 · PMID 15240298not yet assessed
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Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor ↗Parkinsonism & Related Disorders · 2004 · PMID 15261877not yet assessed
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Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas ↗Cancer Genetics and Cytogenetics · 2004 · PMID 15066327not yet assessed
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Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma ↗Journal of Endocrinological Investigation · 2004 · PMID 15129804not yet assessed
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay ↗Human Mutation · 2003 · PMID 12754709not yet assessed
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Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants ↗Neurogenetics · 2003 · PMID 12687422not yet assessed
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NF1 gene analysis based on DHPLC ↗Human Mutation · 2003 · PMID 12552569not yet assessed
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Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy ↗Genetic Testing · 2003 · PMID 14642006not yet assessed
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Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles ↗Human Mutation · 2002 · PMID 11857746not yet assessed
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Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC) ↗Neuromuscular Disorders · 2002 · PMID 12031625not yet assessed
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Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients ↗Human Mutation · 2002 · PMID 12112660not yet assessed
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Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q‐rich‐associated protein) and schizophrenia ↗American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2002 · PMID 12497610not yet assessed
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NF1-gene analysis based on Denaturing high-performance liquid chromatography (DHPLC)UCL Discovery (University College London) · 2002not yet assessed
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Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates ↗Neurogenetics · 2001 · PMID 11354829not yet assessed
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Association study of a promoter polymorphism of UFD1L gene with schizophrenia ↗American Journal of Medical Genetics · 2001 · PMID 11496370not yet assessed
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Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa ↗Mutation Research/Mutation Research Genomics · 2001 · PMID 11465545not yet assessed
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Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophreniaAmerican Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2001not yet assessed
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Evidence for an Association between the SRD5A2 (Type II Steroid 5<i>α</i>‐Reductase) Locus and Prostate Cancer in Italian Patients ↗Disease Markers · 2000 · PMID 11381197not yet assessed
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Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22Cineca Institutional Research Information System (Tor Vergata University) · 2000not yet assessed
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Dopamine D4 receptor (DRD4) in the determination of infant temperament2000not yet assessed
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Localization of a Gene for Familial Patella Aplasia-Hypoplasia (PTLAH) to Chromosome 17q21–22 ↗The American Journal of Human Genetics · 1999 · PMID 10417287not yet assessed
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A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene ↗Journal of Human Genetics · 1999 · PMID 9929985not yet assessed
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A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy ↗Human Heredity · 1999 · PMID 9858861not yet assessed
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First-trimester prenatal diagnosis of Ellis–van Creveld syndrome using linked microsatellite markers ↗Prenatal Diagnosis · 1998not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Luca A” paper on PubMed ↗