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I. Parenti · SciRah

Researcher profile · Semantic Scholar

I. Parenti

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I. Parenti — researcher profile on SciRah

h-index: 21
Works: 59
Citations: 1,755

Most-cited papers

Neurodevelopmental Disorders: From Genetics to Functional Pathways.
I. Parenti, Luis G. Rabaneda, Hanna Schoen, G. Novarino
2020Trends in Neurosciences526 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 citations Open access
Semantic Scholar
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
M. Gil-Rodríguez, M. Deardorff, Morad Ansari, Christopher A. Tan +58 more
2015Human Mutation85 citations Open access
Semantic Scholar
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype
I. Parenti, C. Gervasini, J. Pozojevic, L. Graul-Neumann +15 more
2016Clinical Genetics80 citations Open access
Semantic Scholar
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Michael D. Fountain, D. Oleson, M. Rech, Lara Segebrecht +52 more
2019Genetics in Medicine75 citations Open access
Semantic Scholar
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
I. Parenti, M. Teresa-Rodrigo, J. Pozojevic, Sara Ruiz Gil +20 more
2017Human Genetics72 citations
Semantic Scholar
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
N. Bramswig, Hermann-Josef Lüdecke, Y. Alanay, B. Albrecht +19 more
2015Human Genetics66 citations Open access
Semantic Scholar
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Ana Latorre-Pellicer, Á. Ascaso, Laura Trujillano, Marta Gil-Salvador +12 more
2020International Journal of Molecular Sciences58 citations Open access
Semantic Scholar
Chromatinopathies: A focus on Cornelia de Lange syndrome
L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede +6 more
2019Clinical Genetics55 citations
Semantic Scholar
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
I. Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta +17 more
2020Cell Reports54 citations Open access
Semantic Scholar
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
J. Symonds, S. Joss, K. Metcalfe, Suresh Somarathi +20 more
2017Epilepsia53 citations Open access
Semantic Scholar
ANKRD11 variants: KBG syndrome and beyond
I. Parenti, Mark B. Mallozzi, I. Hüning, C. Gervasini +36 more
2021Clinical Genetics50 citations Open access
Semantic Scholar
Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction
I. Parenti, C. Gervasini, J. Pozojevic, K. Wendt +25 more
2016Clinical Genetics46 citations
Semantic Scholar
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022Nature Communications44 citations Open access
Semantic Scholar
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
C. Gervasini, S. Russo, A. Cereda, I. Parenti +9 more
2013American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
I. Parenti, D. Lehalle, C. Nava, E. Torti +40 more
2021Human Genetics30 citations Open access
Semantic Scholar
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic +9 more
2015Human Mutation30 citations Open access
Semantic Scholar
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
C. Gervasini, I. Parenti, Chiara Picinelli, J. Azzollini +6 more
2013European Journal of Medical Genetics29 citations
Semantic Scholar
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
I. Parenti, F. Kaiser
2021Frontiers in Neuroscience26 citations Open access
Semantic Scholar
The different clinical facets of SYN1-related neurodevelopmental disorders
I. Parenti, E. Leitão, A. Kuechler, L. Villard +48 more
2022Frontiers in Cell and Developmental Biology24 citations Open access
Semantic Scholar
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, L. Bird, D. Heron, B. Keren +20 more
2021American Journal of Medical Genetics. Part A23 citations Open access
Semantic Scholar
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
A. Kampmeier, E. Leitão, I. Parenti, J. Beygo +33 more
2023Frontiers in Cell and Developmental Biology20 citations Open access
Semantic Scholar
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Ana Latorre-Pellicer, Marta Gil-Salvador, I. Parenti, Cristina Lucia-Campos +21 more
2021Scientific Reports20 citations Open access
Semantic Scholar
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
S. Haghshenas, Hidde J. Bout, Josephine M. Schijns, M. Levy +28 more
2024HGG advances18 citations Open access
Semantic Scholar
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element
J. Zuin, Valentina Casà, J. Pozojevic, Petros Kolovos +8 more
2017PLoS Genetics18 citations Open access
Semantic Scholar
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Nina B. Gold, Dong Li, A. Chassevent, F. Kaiser +13 more
2020Clinical Genetics15 citations
Semantic Scholar
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
J. Azzollini, D. Rovina, C. Gervasini, I. Parenti +5 more
2014Journal of Human Genetics15 citations
Semantic Scholar
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
M. Teresa-Rodrigo, Juliane Eckhold, B. Puisac, J. Pozojevic +13 more
2016BioMed Research International14 citations Open access
Semantic Scholar
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
I. Parenti, D. Rovina, M. Masciadri, A. Cereda +8 more
2014Epigenetics14 citations Open access
Semantic Scholar
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E. Sheppard, Laura M. Bryant, Rochelle N Wickramasekara, Courtney N Vaccaro +116 more
2023Science Advances11 citations Open access
Semantic Scholar
Cornelia de Lange syndrome and cancer: An open question
M. M. Pallotta, M. Di Nardo, R. Hennekam, F. Kaiser +5 more
2022American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Natalia Krawczyńska, Alina Kuźniacka, J. Wierzba, I. Parenti +2 more
2018Frontiers in Genetics8 citations Open access
Semantic Scholar
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
J. Pozojevic, I. Parenti, L. Graul-Neumann, Sara Ruiz Gil +6 more
2017European Journal of Medical Genetics8 citations Open access
Semantic Scholar
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
S. Aukema, Kim Vandenput, E. Scarano, H. Goel +16 more
2025American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Á. Ascaso, Ana Latorre-Pellicer, B. Puisac, Laura Trujillano +10 more
2022Journal of Clinical Research in Pediatric Endocrinology5 citations Open access
Semantic Scholar
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Xiao-Xia Peng, Xiang-Bin Jia, Han-Ying Wang, Jingjing Chen +45 more
2025Journal of Clinical Investigation3 citations Open access
Semantic Scholar
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Cristina Lucia-Campos, I. Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador +20 more
2024Frontiers in Genetics3 citations Open access
Semantic Scholar
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic +9 more
20153 citations Open access
Semantic Scholar
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
I. Parenti, Alina Hesters, Marta Gil-Salvador, L. Duffy +52 more
2026Nature Communications2 citations Open access
Semantic Scholar
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling
Macarena Moronta Gines, M. Wessels, Valentina Casà, Thomas van Staveren +12 more
2025iScience2 citations Open access
Semantic Scholar
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
Laura Trujillano, Ariadna Ayerza-Casas, B. Puisac, Ana Latorre-Pellicer +8 more
2024Cureus2 citations Open access
Semantic Scholar
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
I. Parenti, Alina Hesters, Marta Gil-Salvador, L. Duffy +52 more
2025medRxiv1 citations
Semantic Scholar
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches
R. Hollstein, A. Peron, K. Wendt, I. Parenti
2023Frontiers in Cell and Developmental Biology1 citations Open access
Semantic Scholar
De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a
C. Gil-Rodrı́guez, M. Deardorff, Morad Ansari, Christopher A. Tan +58 more
20151 citations
Semantic Scholar
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Philip M. Boone, S. Erdin, Abucar Mohamed, S. Haghshenas +147 more
2026American Journal of Human Genetics0 citations Open access
Semantic Scholar
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
Philip M. Boone, S. Erdin, Abucar Mohamed, S. Haghshenas +147 more
2026medRxiv0 citations Open access
Semantic Scholar
Table of Contents, Volume 197A, Number 12, December 2025
ARSK-Related, 1. Type, Swati Singh Intisar Al Fahdi, Krishnaveni Yadavalli +113 more
2025American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
S. Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy +28 more
2024HGG advances0 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with disorders on chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022medRxiv0 citations Open access
Semantic Scholar
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
I. Parenti, D. Lehalle, C. Nava, E. Torti +40 more
2021Human Genetics0 citations Open access
Semantic Scholar

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