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D. Carli · SciRah

Researcher profile · Semantic Scholar

D. Carli

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D. Carli — researcher profile on SciRah

h-index: 21
Works: 87
Citations: 1,736

Most-cited papers

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Jack M. Fu, F. Satterstrom, Minshi Peng, H. Brand +113 more
2022Nature Genetics554 citations Open access
Semantic Scholar
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
A. Mussa, C. Molinatto, Flavia Cerrato, O. Palumbo +6 more
2017Pediatrics109 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease
A. Mussa, D. Carli, E. Giorgio, A. Villar +13 more
2021Genes54 citations Open access
Semantic Scholar
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
E. di Gregorio, E. Riberi, E. Belligni, E. Biamino +39 more
2017Clinical Genetics47 citations Open access
Semantic Scholar
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente, A. Sparago, A. Freschi, K. Hill-Harfe +16 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
Andrea Gazzin, D. Carli, F. Sirchia, C. Molinatto +5 more
2019American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
A. Mussa, C. Leoni, M. Iacoviello, D. Carli +36 more
2022Journal of Medical Genetics37 citations Open access
Semantic Scholar
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.
Amira Elmakky, D. Carli, L. Lugli, P. Torelli +5 more
2014European Journal of Medical Genetics36 citations Open access
Semantic Scholar
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato, Andrea Delle Vedove, D. Carli, M. Ferrero +30 more
2022Brain : a journal of neurology33 citations Open access
Semantic Scholar
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.
D. Carli, L. Garagnani, M. Lando, T. Fairplay +3 more
2014Jornal de Pediatria33 citations Open access
Semantic Scholar
Syndromic Disorders Caused by Disturbed Human Imprinting
D. Carli, E. Riberi, G. Ferrero, A. Mussa
2020Journal of Clinical Research in Pediatric Endocrinology31 citations Open access
Semantic Scholar
The Effectiveness of Wilms Tumor Screening in Beckwith-Wiedemann Spectrum
A. Mussa, K. Duffy, D. Carli, Jessica R. Griff +5 more
2019Journal of Cancer Research and Clinical Oncology31 citations Open access
Semantic Scholar
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Chiara Giovenino, S. Trajkova, Lisa Pavinato, S. Cardaropoli +25 more
2023European Journal of Human Genetics26 citations Open access
Semantic Scholar
Lateralized and Segmental Overgrowth in Children
A. Mussa, D. Carli, S. Cardaropoli, G. Ferrero +1 more
2021Cancers23 citations Open access
Semantic Scholar
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
D. Carli, C. Bertola, S. Cardaropoli, Valentina Pia Ciuffreda +3 more
2020Journal of Medical Genetics23 citations
Semantic Scholar
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations
D. Carli, E. Giorgio, F. Pantaleoni, A. Bruselles +16 more
2019Human Mutation23 citations Open access
Semantic Scholar
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum
D. Carli, Silvia Kalantari, R. Manicone, P. Coppo +9 more
2021Clinical Genetics22 citations
Semantic Scholar
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, María Sanchiz-Calvo, C. Andreoli +22 more
2020Journal of Medical Genetics22 citations Open access
Semantic Scholar
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
A. Mussa, K. Duffy, D. Carli, G. Ferrero +1 more
2018Pediatric Blood & Cancer22 citations Open access
Semantic Scholar
Successful treatment with MEK‐inhibitor in a patient with NRAS ‐related cutaneous skeletal hypophosphatemia syndrome
D. Carli, S. Cardaropoli, D. Tessaris, P. Coppo +11 more
2022Genes, Chromosomes and Cancer21 citations Open access
Semantic Scholar
Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.
D. Carli, T. Fairplay, P. Ferrari, S. Sartini +9 more
2013Birth defects research. Clinical and molecular teratology21 citations Open access
Semantic Scholar
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, D. Carli +3 more
2024Life20 citations Open access
Semantic Scholar
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.
D. Carli, M. De Pellegrin, Luisa Franceschi, F. Zinali +9 more
2021Jornal de Pediatria19 citations Open access
Semantic Scholar
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”
G. Tuli, J. Munarin, A. Mussa, D. Carli +6 more
2021Endocrine19 citations Open access
Semantic Scholar
Constitutional bone impairment in Noonan syndrome
Giuseppina Baldassarre, A. Mussa, D. Carli, C. Molinatto +1 more
2017American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
M. Riva, D. Martorana, V. Uliana, E. Caleffi +14 more
2021Genes, Chromosomes and Cancer17 citations Open access
Semantic Scholar
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
E. Coccia, Lara Valeri, R. Zuntini, S. Caraffi +22 more
2023Genes16 citations Open access
Semantic Scholar
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
Giuseppe Reynolds, S. Cardaropoli, D. Carli, M. Luca +9 more
2023European Journal of Human Genetics16 citations Open access
Semantic Scholar
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
D. Carli, N. Resta, G. Ferrero, M. Ruggieri +1 more
2022American Journal of Medical Genetics. Part C, Seminars in Medical Genetics16 citations
Semantic Scholar
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Andrea Gazzin, Federico Fornari, M. Niceta, C. Leoni +18 more
2024European Journal of Human Genetics15 citations Open access
Semantic Scholar
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
D. Carli, Matteo Operti, S. Russo, G. Cocchi +20 more
2022Clinical Genetics14 citations Open access
Semantic Scholar
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
F. Bonatti, Alessia Adorni, Annalisa Matichecchia, P. Mozzoni +10 more
2017International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians
P. Defabianis, A. Mussa, Rossella Ninivaggi, D. Carli +1 more
2022International Journal of Environmental Research and Public Health13 citations Open access
Semantic Scholar
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies
P. Quarello, D. Carli, D. Biasoni, Simona Gerocarni Nappo +8 more
2023Cancers12 citations Open access
Semantic Scholar
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
M. Sy, J. Chauhan, K. Prescott, A. Imam +49 more
2022American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
D. Carli, G. Ferrero, Anna Fusillo, P. Coppo +7 more
2021Clinical Genetics12 citations
Semantic Scholar
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)
G. Innella, D. Greco, D. Carli, P. Magini +6 more
2020American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families
M. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, T. Balci +36 more
2023American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Holoprosencephaly: report of four cases and genotype–phenotype correlations
Francesca Lami, D. Carli, P. Ferrari, M. Marini +3 more
2013Journal Genetika10 citations Open access
Semantic Scholar
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
M. Dentici, M. Niceta, F. Lepri, Cecilia Mancini +35 more
2024European Journal of Human Genetics9 citations Open access
Semantic Scholar
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
M. Luca, D. Carli, S. Cardaropoli, D. Milani +18 more
2023Cancers9 citations Open access
Semantic Scholar
Epilepsy in a cohort of children with Noonan syndrome and related disorders
C. Davico, R. D’Alessandro, Marta Borgogno, Filippa Campagna +8 more
2022European Journal of Pediatrics9 citations
Semantic Scholar
Esophageal duplication cyst in newborn.
Salvatore Garofalo, J. Schleef, R. Guanà, L. Suteu +4 more
2020Pediatrics and Neonatology9 citations Open access
Semantic Scholar
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome
A. Mussa, Valentina Pia Ciuffreda, P. Sauro, V. Pagliardini +6 more
2019Cancers9 citations Open access
Semantic Scholar
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
S. Trajkova, E. di Gregorio, G. Ferrero, D. Carli +4 more
2020Brain Science8 citations Open access
Semantic Scholar
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome
C. Davico, Marta Borgogno, Filippa Campagna, R. D’Alessandro +6 more
2021Journal of Developmental and Behavioral Pediatrics7 citations
Semantic Scholar
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
Camilla Sarli, Liselot van der Laan, Jack Reilly, S. Trajkova +29 more
2024American Journal of Medical Genetics. Part C, Seminars in Medical Genetics6 citations Open access
Semantic Scholar
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
M. Luca, M. Piglionica, R. Bagnulo, S. Cardaropoli +8 more
2023Genes, Chromosomes and Cancer6 citations Open access
Semantic Scholar
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
D. Carli, A. Moroni, Di Gregorio Eleonora, A. Zonta +8 more
2021Journal Genetika6 citations Open access
Semantic Scholar

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A. Mussa×29
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