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F. Forzano · SciRah

Researcher profile · Semantic Scholar

F. Forzano

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F. Forzano — researcher profile on SciRah

h-index: 34
Works: 112
Citations: 3,813

Most-cited papers

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
W. Dondorp, G. de Wert, Yvonne Bombard, D. Bianchi +18 more
2015European Journal of Human Genetics258 citations Open access
Semantic Scholar
Responsible implementation of expanded carrier screening
L. Henneman, P. Borry, Davit Chokoshvili, M. Cornel +13 more
2016European Journal of Human Genetics254 citations Open access
Semantic Scholar
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Deb D'Angelo, S. Lebon, Qi-Xuan Chen, S. Martin-Brevet +51 more
2016JAMA psychiatry232 citations Open access
Semantic Scholar
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
W. Dondorp, G. de Wert, Yvonne Bombard, D. Bianchi +18 more
2015European Journal of Human Genetics163 citations Open access
Semantic Scholar
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Miriam Gordillo, Hugo Vega, A. Trainer, F. Hou +22 more
2008Human Molecular Genetics133 citations Open access
Semantic Scholar
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
G. de Wert, W. Dondorp, A. Clarke, E. Dequeker +14 more
2020European Journal of Human Genetics132 citations Open access
Semantic Scholar
Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature
L. Garavelli, M. Zollino, P. Mainardi, F. Gurrieri +32 more
2009American Journal of Medical Genetics. Part A114 citations
Semantic Scholar
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
F. Fellmann, C. V. van El, P. Charron, K. Michaud +19 more
2019European Journal of Human Genetics110 citations Open access
Semantic Scholar
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
L. Micale, B. Augello, C. Fusco, A. Selicorni +37 more
2011Orphanet Journal of Rare Diseases100 citations Open access
Semantic Scholar
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
Daniele Carrieri, H. Howard, C. Benjamin, A. Clarke +16 more
2018European Journal of Human Genetics92 citations Open access
Semantic Scholar
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
Gloria Negri, D. Milani, P. Colapietro, F. Forzano +11 more
2015Clinical Genetics91 citations
Semantic Scholar
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
N. Garcia-Segarra, L. Mittaz, Ana Belinda Campos-Xavier, C. Bartels +25 more
2012American Journal of Medical Genetics. Part C, Seminars in Medical Genetics88 citations Open access
Semantic Scholar
Developing a policy for paediatric biobanks: principles for good practice
K. Hens, C. V. van El, P. Borry, A. Cambon-Thomsen +9 more
2012European Journal of Human Genetics79 citations Open access
Semantic Scholar
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +64 more
2013Orphanet Journal of Rare Diseases78 citations Open access
Semantic Scholar
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
Hugo Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier +13 more
2009Journal of Medical Genetics76 citations Open access
Semantic Scholar
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
A. Vetro, M. Dehghani, L. Kraoua, R. Giorda +24 more
2014European Journal of Human Genetics75 citations Open access
Semantic Scholar
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
F. Forzano, O. Antonova, A. Clarke, G. de Wert +22 more
2021European Journal of Human Genetics74 citations Open access
Semantic Scholar
Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
P. Hammond, F. Hannes, M. Suttie, K. Devriendt +9 more
2011European Journal of Human Genetics74 citations Open access
Semantic Scholar
A specific mutation in TBL1XR1 causes Pierpont syndrome
C. Heinen, A. Jongejan, P. Watson, B. Redeker +13 more
2016Journal of Medical Genetics66 citations Open access
Semantic Scholar
Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond
L. Henneman, P. Borry, Davit Chokoshvili, M. Cornel +13 more
2017European Journal of Human Genetics65 citations Open access
Semantic Scholar
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
A. Pagnamenta, P. Kaisaki, Fenella Bennett, E. Burkitt-Wright +22 more
2019Clinical Genetics59 citations Open access
Semantic Scholar
One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans
H. Howard, C. V. van El, F. Forzano, D. Radojkovic +4 more
2017European Journal of Human Genetics59 citations Open access
Semantic Scholar
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.
Giovanni Battistella, J. Niederhauser, E. Fornari, L. Hippolyte +8 more
2013Neurobiology of Aging58 citations
Semantic Scholar
Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature
F. Forzano, S. Mansour, A. Ierullo, T. Homfray +1 more
2007Prenatal Diagnosis58 citations
Semantic Scholar
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
N. Revencu, L. Boon, A. Dompmartin, P. Rieu +12 more
2013Molecular Syndromology48 citations Open access
Semantic Scholar
Italian appeal court: a genetic predisposition to commit murder?
F. Forzano, P. Borry, A. Cambon-Thomsen, S. Hodgson +4 more
2010European Journal of Human Genetics48 citations Open access
Semantic Scholar
Craniofacial characteristics of fragile X syndrome in mouse and man
Inge Heulens, M. Suttie, A. Postnov, N. D. de Clerck +6 more
2012European Journal of Human Genetics44 citations Open access
Semantic Scholar
Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE
G. de Wert, B. Heindryckx, G. Pennings, A. Clarke +10 more
2018European Journal of Human Genetics42 citations Open access
Semantic Scholar
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe
F. Sirchia, Daniele Carrieri, Sandi Dheensa, C. Benjamin +12 more
2018European Journal of Human Genetics39 citations Open access
Semantic Scholar
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +70 more
2023Science Translational Medicine34 citations Open access
Semantic Scholar
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
S. Cho, Jun‐Seok Bae, Na-young Kim, F. Forzano +16 more
2016American Journal of Human Genetics34 citations Open access
Semantic Scholar
Human germline gene editing. Recommendations of ESHG and ESHRE
G. de Wert, G. Pennings, A. Clarke, U. Eichenlaub-Ritter +9 more
2018Human Reproduction Open31 citations Open access
Semantic Scholar
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father
F. Forzano, M. Lituania, A. Viassolo, V. Superti-Furga +3 more
2007American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
A. Pagnamenta, Jing Yu, Susan Walker, Alexandra J. Noble +64 more
2024American Journal of Human Genetics27 citations Open access
Semantic Scholar
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
G. Mandrile, A. Dubois, Jodi D. Hoffman, V. Uliana +8 more
2013European Journal of Medical Genetics26 citations Open access
Semantic Scholar
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene
B. Gentilin, F. Forzano, M. Bedeschi, T. Rizzuti +11 more
2010Ultrasound in Obstetrics and Gynecology26 citations
Semantic Scholar
Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene
M. Cecconi, F. Forzano, L. Garavelli, C. Pantaleoni +5 more
2008American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
D. Rots, Arianne Bouman, Ayumi Yamada, M. Levy +88 more
2024American Journal of Human Genetics25 citations Open access
Semantic Scholar
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes
F. Forzano, M. Genuardi, Y. Moreau
2021European Journal of Human Genetics24 citations Open access
Semantic Scholar
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci
L. Garavelli, M. R. Piemontese, A. Cavazza, S. Rosato +9 more
2013American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
F. Lalatta, Donatella Quagliarini, Emanuela Folliero, Ugo Cavallari +11 more
2010European Journal of Pediatrics24 citations
Semantic Scholar
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
F. Pirozzi, Matthew Berkseth, Rylee Shear, L. Gonzalez +20 more
2022Brain : a journal of neurology22 citations Open access
Semantic Scholar
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment
A. Cocchella, M. Malacarne, F. Forzano, C. Marciano +4 more
2010American Journal of Medical Genetics Part B: Neuropsychiatric Genetics22 citations
Semantic Scholar
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
V. Guida, L. Calzari, M. Fadda, F. Piceci-Sparascio +19 more
2021International Journal of Molecular Sciences21 citations Open access
Semantic Scholar
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
L. Matalonga, S. Laurie, Anastasios Papakonstantinou, D. Piscia +79 more
2020Journal of Molecular Diagnostics20 citations Open access
Semantic Scholar
A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases".
G. Samuel, H. Howard, M. Cornel, C. V. van El +3 more
2018Forensic Science International: Genetics20 citations Open access
Semantic Scholar
Growth hormone, gender and face shape in prader–willi syndrome
M. A. de Souza, C. McAllister, M. Suttie, C. Perrotta +5 more
2013American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
Ivan Shelihan, Sophie Ehresmann, C. Magnani, F. Forzano +3 more
2018Human Genetics19 citations
Semantic Scholar
19q13 microdeletion syndrome: Further refining the critical region.
F. Forzano, F. Napoli, V. Uliana, M. Malacarne +7 more
2012European Journal of Medical Genetics19 citations
Semantic Scholar
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Ilaria Catusi, M. Garzo, A. Capra, S. Briuglia +13 more
2021Genes18 citations Open access
Semantic Scholar

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