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C. Romano · SciRah

Researcher profile · Semantic Scholar

C. Romano

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C. Romano — researcher profile on SciRah

h-index: 51
Works: 213
Citations: 13K

Most-cited papers

Disruptive CHD8 mutations define a subtype of autism early in development
R. Bernier, C. Golzio, Bo Xiong, H. Stessman +30 more
2014Cell769 citations Open access
Semantic Scholar
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe, K. Witherspoon, J. Rosenfeld, B. V. van Bon +35 more
2014Nature Genetics689 citations Open access
Semantic Scholar
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases
H. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang +49 more
2017Nature Genetics521 citations Open access
Semantic Scholar
A SWI/SNF related autism syndrome caused by de novo mutations in ADNP
C. Helsmoortel, A. T. Vulto-van Silfhout, Bradley P. Coe, G. Vandeweyer +21 more
2014Nature Genetics348 citations Open access
Semantic Scholar
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, E. Madsen, J. Juusola, C. Gilissen +81 more
2015American Journal of Human Genetics273 citations Open access
Semantic Scholar
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
M. Bonaglia, R. Giorda, S. Beri, Cristina De Agostini +51 more
2011PLoS Genetics188 citations Open access
Semantic Scholar
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Tianyun Wang, K. Hoekzema, D. Vecchio, Hui-Dan Wu +67 more
2020Nature Communications187 citations Open access
Semantic Scholar
Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains
Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe +36 more
2017Nature Neuroscience174 citations Open access
Semantic Scholar
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
B. V. van Bon, Bradley P. Coe, R. Bernier, Cherie C Green +18 more
2015Molecular Psychiatry172 citations Open access
Semantic Scholar
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
H. Stessman, M. Willemsen, Michaela Fenckova, O. Penn +47 more
2016American Journal of Human Genetics159 citations Open access
Semantic Scholar
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, J. Rosenfeld +52 more
2018Genetics in Medicine156 citations Open access
Semantic Scholar
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
A. C. Lionel, K. Tammimies, A. Vaags, J. Rosenfeld +80 more
2014Human Molecular Genetics151 citations Open access
Semantic Scholar
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
A. van Dijck, A. T. Vulto-van Silfhout, E. Cappuyns, I. M. van der Werf +99 more
2018Biological Psychiatry150 citations Open access
Semantic Scholar
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
D. Koolen, R. Pfundt, K. Linda, G. Beunders +45 more
2015European Journal of Human Genetics143 citations Open access
Semantic Scholar
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
J. Schuurs-Hoeijmakers, A. T. Vulto-van Silfhout, L. Vissers, I. van de Vondervoort +27 more
2013Journal of Medical Genetics104 citations Open access
Semantic Scholar
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
M. Gillentine, Tianyun Wang, K. Hoekzema, J. Rosenfeld +94 more
2021Genome Medicine97 citations Open access
Semantic Scholar
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation
M. F. Iulita, A. Ower, C. Barone, R. Pentz +13 more
2016Alzheimer's & Dementia93 citations
Semantic Scholar
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Hanyin Cheng, A. Dharmadhikari, Sylvia Varland, Ning Ma +68 more
2018American Journal of Human Genetics85 citations Open access
Semantic Scholar
The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism
G. Vandeweyer, C. Helsmoortel, A. van Dijck, A. T. Vulto-van Silfhout +16 more
2014American Journal of Medical Genetics. Part C, Seminars in Medical Genetics80 citations Open access
Semantic Scholar
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Vittoria Disciglio, C. L. Rizzo, M. Mencarelli, M. Mucciolo +23 more
2014American Journal of Medical Genetics. Part A65 citations
Semantic Scholar
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
C. Curry, J. Rosenfeld, E. Grant, K. Gripp +38 more
2013American Journal of Medical Genetics. Part A65 citations Open access
Semantic Scholar
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo, E. Bettella, Paul C. Marcogliese, Rongjuan Zhao +64 more
2019Nature Communications63 citations Open access
Semantic Scholar
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
S. Jansen, A. Hoischen, Bradley P. Coe, G. Carvill +37 more
2017European Journal of Human Genetics54 citations Open access
Semantic Scholar
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo, Ying Li, Lu Shen, Tianyun Wang +69 more
2019Science Advances53 citations Open access
Semantic Scholar
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
S. Jansen, I. M. van der Werf, A. Innes, A. Afenjar +47 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
F. Calì, V. Chiavetta, Giuseppa Ruggeri, M. Piccione +21 more
2017European Journal of Medical Genetics32 citations
Semantic Scholar
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations
G. Serra, L. Memo, A. Coscia, M. Giuffré +13 more
2021Italian Journal of Pediatrics31 citations Open access
Semantic Scholar
DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome.
F. Coppedè, P. Bosco, P. Tannorella, C. Romano +4 more
2013Human Reproduction30 citations Open access
Semantic Scholar
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome
Michele Salemi, R. Cannarella, R. Condorelli, L. Cimino +5 more
2019BMC Medical Genetics29 citations Open access
Semantic Scholar
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
Santina Città, S. Buono, D. Greco, C. Barone +5 more
2013American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
L. Bianciardi, M. Fichera, P. Failla, C. Di Marco +9 more
2015Journal of Human Genetics27 citations Open access
Semantic Scholar
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
N. Chatron, R. Møller, N. Champaigne, Amy L. Schneider +23 more
2018Annals of Neurology26 citations Open access
Semantic Scholar
Recurrent duplications of 17q12 associated with variable phenotypes
E. Mitchell, Andrew Douglas, Susanne Kjaegaard, B. Callewaert +28 more
2015American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
D. Di Benedetto, Giuseppa Di Vita, C. Romano, M. Giudice +6 more
2013Molecular Cytogenetics26 citations Open access
Semantic Scholar
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
C. Scuderi, Lucia Saccuzzo, M. Vinci, L. Castiglia +7 more
2019European Journal of Human Genetics25 citations Open access
Semantic Scholar
PTEN Gene: A Model for Genetic Diseases in Dermatology
C. Romano, C. Schepis
2012TheScientificWorldJournal25 citations Open access
Semantic Scholar
The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case–control study and a meta-analysis
F. Coppedè, P. Bosco, V. Lorenzoni, M. Denaro +6 more
2014Molecular Biology Reports23 citations
Semantic Scholar
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability
I. Gandin, F. Faletra, Francesca Faletra, M. Carella +10 more
2014Genetics in Medicine22 citations Open access
Semantic Scholar
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
C. Nellåker, F. Alkuraya, Gareth Baynam, R. Bernier +48 more
2019Frontiers in Genetics21 citations Open access
Semantic Scholar
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.
Lucia Grillo, D. Greco, R. Pettinato, E. Avola +8 more
2014Gene20 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
The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer’s disease: Further Evidence in an Italian Multicenter Study
A. Stoccoro, P. Tannorella, M. G. Salluzzo, R. Ferri +5 more
2017Journal of Alzheimer's Disease18 citations
Semantic Scholar
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
D. Di Benedetto, S. Musumeci, E. Avola, A. Alberti +11 more
2014American Journal of Medical Genetics. Part A18 citations
Semantic Scholar
The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case–control study and a meta-analysis
F. Coppedè, P. Bosco, V. Lorenzoni, F. Migheli +5 more
2013Molecular Biology Reports18 citations
Semantic Scholar
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
M. Fichera, P. Failla, Lucia Saccuzzo, M. Miceli +9 more
2019Human Genetics17 citations
Semantic Scholar
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease
Michele Salemi, F. Cosentino, G. Lanza, Mariagiovanna Cantone +8 more
2021Archives of medical science : AMS14 citations Open access
Semantic Scholar
Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome
F. Caraci, Florencia Iulita, R. Pentz, L. F. Aguilar +5 more
2017European Journal of Pharmacology14 citations
Semantic Scholar
Expression of STRBP mRNA in patients with cryptorchidism and Down’s syndrome
Michele Salemi, S. La Vignera, R. Castiglione, R. Condorelli +4 more
2012Journal of Endocrinological Investigation14 citations
Semantic Scholar
Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome
Michele Salemi, L. Cimino, M. Marino, R. Cannarella +4 more
2018International Journal of Medical Sciences13 citations Open access
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

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