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R. Villa · SciRah

Researcher profile · Semantic Scholar

R. Villa

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R. Villa — researcher profile on SciRah

h-index: 9
Works: 30
Citations: 260

Most-cited papers

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
Berardo Rinaldi, R. Villa, A. Sironi, L. Garavelli +2 more
2022Genes57 citations Open access
Semantic Scholar
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
A. Ciammola, P. Carrera, A. di Fonzo, J. Sassone +11 more
2017Parkinsonism & Related Disorders32 citations
Semantic Scholar
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer
J. Azzollini, Chiara Pesenti, S. Pizzamiglio, L. Fontana +11 more
2019Cancers29 citations Open access
Semantic Scholar
Association Between CYP3A5 Polymorphisms and Blood Pressure in Kidney Transplant Recipients Receiving Calcineurin Inhibitors
M. Ferraresso, S. Turolo, L. Ghio, A. Tirelli +4 more
2011Clinical and experimental hypertension19 citations
Semantic Scholar
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature
M. Crippa, S. Giangiobbe, R. Villa, I. Bestetti +8 more
2018Journal of Endocrinological Investigation17 citations
Semantic Scholar
Alport syndrome: the effects of spironolactone on proteinuria and urinary TGF-β1
M. Giani, A. Mastrangelo, R. Villa, S. Turolo +4 more
2013Pediatric nephrology (Berlin, West)14 citations
Semantic Scholar
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis
M. Bedeschi, Beatrice L. Crippa, L. Colombo, M. Buscemi +10 more
2020Italian Journal of Pediatrics13 citations Open access
Semantic Scholar
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
L. Micale, S. Morlino, Annalisa Schirizzi, E. Agolini +9 more
2020Genes13 citations Open access
Semantic Scholar
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
R. Villa, V. G. C. Fergnani, R. Silipigni, S. Guerneri +22 more
2020European journal of paediatric neurology10 citations Open access
Semantic Scholar
Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
B. Conti, Berardo Rinaldi, Martina Rimoldi, R. Villa +7 more
2023American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients
Cecilia Ghisleni, B. Parma, P. Cianci, A. De Paoli +15 more
2022American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
G. Rodari, R. Villa, Matteo Porro, S. Gangi +10 more
2022European Journal of Human Genetics6 citations Open access
Semantic Scholar
CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia
A. Consales, Beatrice L. Crippa, L. Colombo, R. Villa +4 more
2022Italian Journal of Pediatrics5 citations Open access
Semantic Scholar
Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature
R. Villa, J. Azzollini, B. Peissel, S. Manoukian
2019Gynecologic Oncology Reports5 citations Open access
Semantic Scholar
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
Giada Moresco, O. Rondinone, Alessia Mauri, Jole Costanza +14 more
2022Genes & Genomics4 citations
Semantic Scholar
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature
A. Consales, Giulia Ardemani, C. Cinnante, M. Catalano +6 more
2022BMC Neurology4 citations Open access
Semantic Scholar
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
E. Errichiello, A. Arossa, A. Iasci, R. Villa +5 more
2020Clinical Genetics4 citations Open access
Semantic Scholar
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
F. D’Ambrosi, L. Ronzoni, R. Villa, S. De Marinis +3 more
2020Journal of Ultrasound4 citations Open access
Semantic Scholar
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
B. Beltrami, Jacopo Cerasani, A. Consales, R. Villa +8 more
2022Clinical Case Reports3 citations Open access
Semantic Scholar
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing
Giada Moresco, M. Bedeschi, M. Venturin, R. Villa +9 more
2024Genes2 citations Open access
Semantic Scholar
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Martina Rimoldi, Berardo Rinaldi, R. Villa, Jacopo Cerasani +9 more
2022American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome
Berardo Rinaldi, C. Cesaretti, S. Boito, R. Villa +10 more
2022Prenatal Diagnosis2 citations
Semantic Scholar
Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome
M. Bedeschi, A. Baldassarri, R. Villa, F. Tanzi +7 more
2025American Journal of Medical Genetics. Part A1 citations Open access
Semantic Scholar
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
L. Romito, Fabiana Colucci, V. Leta, C. Panteghini +8 more
2024Movement Disorders Clinical Practice1 citations Open access
Semantic Scholar
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
Delong Liu, C. Billington, N. Raja, Z. Wong +21 more
2024Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease1 citations Open access
Semantic Scholar
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping
D. Liu, C. Mervis, M. Levin, E. Biamino +12 more
2024medRxiv0 citations Open access
Semantic Scholar
P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes
A. Golbus, Delong Liu, M. Levin, N. Raja +14 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome
Ester Capecchi, R. Villa, A. Pini, M. Iascone +5 more
2024Italian Journal of Pediatrics0 citations Open access
Semantic Scholar
Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome
Dong Liu, C. Billington, N. Raja, Z. Wong +21 more
2022medRxiv0 citations Open access
Semantic Scholar
Author response for "An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis"
E. Errichiello, A. Arossa, A. Iasci, R. Villa +5 more
20200 citations
Semantic Scholar

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