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E. Merello · SciRah

Researcher profile · Semantic Scholar

E. Merello

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E. Merello — researcher profile on SciRah

h-index: 29
Works: 62
Citations: 2,541

Most-cited papers

Mutations in VANGL1 associated with neural-tube defects.
Z. Kibar, E. Torban, J. McDearmid, Annie Reynolds +10 more
2007New England Journal of Medicine314 citations
Semantic Scholar
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
P. de Marco, M. Calevo, A. Moroni, L. Arata +6 more
2002Journal of Human Genetics131 citations
Semantic Scholar
Contribution of VANGL2 mutations to isolated neural tube defects
Z. Kibar, Sandra Salem, Ciprian M. Bosoi, Elodie Pauwels +5 more
2010Clinical Genetics121 citations Open access
Semantic Scholar
Novel Mutations in VANGL1 in Neural Tube Defects
Z. Kibar, Ciprian M. Bosoi, M. Kooistra, Sandra Salem +6 more
2009Human Mutation116 citations Open access
Semantic Scholar
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
J. Seo, Yulia Zilber, Sima Babayeva, Jia-Jia Liu +6 more
2011Human Molecular Genetics105 citations Open access
Semantic Scholar
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
Redouane Allache, P. de Marco, E. Merello, V. Capra +1 more
2012Birth defects research. Clinical and molecular teratology104 citations
Semantic Scholar
Reduced folate carrier polymorphism (80A→G) and neural tube defects
P. de Marco, M. Calevo, A. Moroni, E. Merello +6 more
2003European Journal of Human Genetics101 citations
Semantic Scholar
FZD6 is a novel gene for human neural tube defects
P. de Marco, E. Merello, A. Rossi, G. Piatelli +3 more
2011Human Mutation100 citations Open access
Semantic Scholar
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects
Ciprian M. Bosoi, V. Capra, Redouane Allache, Vincent Quoc-Huy Trinh +5 more
2011Human Mutation87 citations Open access
Semantic Scholar
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
P. de Marco, E. Merello, M. Calevo, S. Mascelli +3 more
2006Journal of Human Genetics87 citations
Semantic Scholar
Loss-of-function de novo mutations play an important role in severe human neural tube defects
P. Lemay, M. Guyot, Élizabeth Tremblay, A. Dionne-Laporte +11 more
2015Journal of Medical Genetics76 citations Open access
Semantic Scholar
Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study
P. de Marco, E. Merello, M. Calevo, S. Mascelli +6 more
2011Child's Nervous System69 citations
Semantic Scholar
Folate pathway gene alterations in patients with neural tube defects.
P. de Marco, A. Moroni, E. Merello, R. de Franchis +5 more
2000American journal of medical genetics66 citations
Semantic Scholar
Current perspectives on the genetic causes of neural tube defects
P. de Marco, E. Merello, S. Mascelli, V. Capra
2006Neurogenetics64 citations
Semantic Scholar
Polymorphisms in Genes Involved in Folate Metabolism as Risk Factors for NTDs
P. de Marco, M. Calevo, A. Moroni, L. Arata +5 more
2001European journal of pediatric surgery64 citations
Semantic Scholar
Human neural tube defects: genetic causes and prevention.
P. de Marco, E. Merello, A. Cama, Z. Kibar +1 more
2011Biofactors55 citations
Semantic Scholar
Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects
P. de Marco, E. Merello, A. Consales, G. Piatelli +3 more
2012Journal of Molecular Neuroscience53 citations Open access
Semantic Scholar
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish
Annie Reynolds, J. McDearmid, S. Lachance, P. de Marco +5 more
2010Mechanisms of Development53 citations Open access
Semantic Scholar
Hypoxia transcriptionally induces macrophage‐inflammatory protein‐3α/CCL‐20 in primary human mononuclear phagocytes through nuclear factor (NF)‐κB
F. Battaglia, S. Delfino, E. Merello, M. Puppo +3 more
200851 citations
Semantic Scholar
No major role for the EMX2 gene in schizencephaly
E. Merello, E. Swanson, P. de Marco, M. Akhter +7 more
2008American Journal of Medical Genetics. Part A47 citations
Semantic Scholar
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
P. de Marco, E. Merello, G. Piatelli, A. Cama +2 more
2014Birth defects research. Clinical and molecular teratology44 citations
Semantic Scholar
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.
Redouane Allache, S. Lachance, M. Guyot, P. de Marco +4 more
2014Human Molecular Genetics41 citations Open access
Semantic Scholar
Induction of Macrophage Glutamine: Fructose-6-Phosphate Amidotransferase Expression by Hypoxia and by Picolinic Acid
B. Manzari, J. E. Kudlow, Paolo Fardin, E. Merello +4 more
2007International Journal of Immunopathology and Pharmacology40 citations Open access
Semantic Scholar
Rare deleterious variants in GRHL3 are associated with human spina bifida
P. Lemay, P. de Marco, A.M. Emond, D. Spiegelman +7 more
2017Human Mutation33 citations Open access
Semantic Scholar
Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.
Ming-Qin Wang, P. de Marco, E. Merello, P. Drapeau +2 more
2015Birth defects research. Clinical and molecular teratology32 citations
Semantic Scholar
Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.
E. Merello, P. de Marco, M. Ravegnani, G. Riccipetitoni +2 more
2013European Journal of Medical Genetics32 citations
Semantic Scholar
Hypoxia transcriptionally induces macrophage-inflammatory protein-3alpha/CCL-20 in primary human mononuclear phagocytes through nuclear factor (NF)-kappaB.
F. Battaglia, S. Delfino, E. Merello, M. Puppo +3 more
2008Journal of Leukocyte Biology32 citations
Semantic Scholar
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.
T. Bachetti, A. Robbiano, Sara Parodi, I. Matera +6 more
2006American Journal of Respiratory and Critical Care Medicine31 citations
Semantic Scholar
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development
E. Merello, Lorenzo Tattini, Alberto Magi, A. Accogli +7 more
2017European Journal of Human Genetics30 citations Open access
Semantic Scholar
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization
Fares Kharfallah, M. Guyot, Abdul-Rahman El-Hassan, Redouane Allache +5 more
2017Human Molecular Genetics30 citations
Semantic Scholar
Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?
C. Nappi, A. di Spiezio Sardo, V. Mandato, G. Bifulco +5 more
2006BMC Cancer28 citations Open access
Semantic Scholar
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
E. Merello, S. Mascelli, A. Raso, G. Piatelli +5 more
2015Birth defects research. Clinical and molecular teratology27 citations
Semantic Scholar
Successful isolation and long‐term establishment of a cell line with stem cell‐like features from an anaplastic medulloblastoma
A. Raso, F. Negri, A. Gregorio, P. Nozza +8 more
2008Neuropathology and Applied Neurobiology26 citations
Semantic Scholar
Whole exome sequencing identifies novel predisposing genes in neural tube defects
P. Lemay, P. de Marco, M. Traverso, E. Merello +10 more
2018Molecular Genetics & Genomic Medicine25 citations Open access
Semantic Scholar
HLXB9 homeobox gene and caudal regression syndrome.
E. Merello, P. de Marco, S. Mascelli, A. Raso +6 more
2006Birth defects research. Clinical and molecular teratology25 citations
Semantic Scholar
Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects.
Redouane Allache, Ming-Qin Wang, P. de Marco, E. Merello +2 more
2015Birth defects research. Clinical and molecular teratology24 citations
Semantic Scholar
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.
P. de Marco, E. Merello, S. Mascelli, A. Raso +5 more
2006Birth defects research. Clinical and molecular teratology22 citations
Semantic Scholar
Genetic Screening of Pediatric Cavernous Malformations
E. Merello, M. Pavanello, A. Consales, S. Mascelli +5 more
2016Journal of Molecular Neuroscience21 citations
Semantic Scholar
Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West.
A. Raso, R. Biassoni, S. Mascelli, P. Nozza +7 more
2020Journal of Neurosurgical Sciences19 citations
Semantic Scholar
Sacral agenesis: a pilot whole exome sequencing and copy number study
R. Porsch, E. Merello, P. de Marco, G. Cheng +8 more
2016bioRxiv16 citations Open access
Semantic Scholar
The Tumor Suppressor Hamartin Enhances Dbl Protein Transforming Activity through Interaction with Ezrin*
M. Ognibene, Cristina Vanni, Daniela Segalerba, P. Mancini +5 more
2011Journal of Biological Chemistry16 citations Open access
Semantic Scholar
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
J. Seo, Yulia Zilber, Sima Babayeva, Jia-Jia Liu +6 more
2015Human Molecular Genetics14 citations Open access
Semantic Scholar
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.
V. Capra, P. de Marco, E. Merello, Ave Maria Baffico +11 more
2009European Journal of Medical Genetics14 citations
Semantic Scholar
Gα13 Regulation of Proto-Dbl Signaling
Cristina Vanni, P. Mancini, C. Ottaviano, M. Ognibene +7 more
200713 citations Open access
Semantic Scholar
Urological outcome in patients with Currarino syndrome.
L. Pio, G. Piatelli, A. Rossi, P. Scarsi +5 more
2014Journal of Pediatric Surgery11 citations
Semantic Scholar
Galpha13 regulation of proto-Dbl signaling.
Cristina Vanni, P. Mancini, C. Ottaviano, M. Ognibene +7 more
2007Cell Cycle7 citations
Semantic Scholar
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
P. de Marco, A. Raso, S. Beri, S. Gimelli +9 more
2011European Journal of Medical Genetics6 citations
Semantic Scholar
Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.
E. Merello, P. de Marco, A. Moroni, A. Raso +4 more
2004Birth defects research. Clinical and molecular teratology6 citations
Semantic Scholar
Cost effective assay choice for rare disease study designs
D. Campbell, R. Porsch, S. Cherny, V. Capra +4 more
2015Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord
S. Mascelli, M. Severino, A. Raso, P. Nozza +10 more
2014Molecular Cytogenetics4 citations Open access
Semantic Scholar

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P. de Marco×41
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P. de Marco — researcher profile on SciRah
V. Capra×39
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V. Capra — researcher profile on SciRah
A. Cama×23
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A. Cama — researcher profile on SciRah
Z. Kibar×19
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Z. Kibar — researcher profile on SciRah

×12

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A. Raso — researcher profile on SciRah

S. Mascelli×12

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S. Mascelli — researcher profile on SciRah

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M. Calevo — researcher profile on SciRah

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G. Piatelli — researcher profile on SciRah

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A. Rossi — researcher profile on SciRah

M. Pavanello×6

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M. Pavanello — researcher profile on SciRah

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A. Moroni — researcher profile on SciRah