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E. Argilli · SciRah

Researcher profile · Semantic Scholar

E. Argilli

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E. Argilli — researcher profile on SciRah

h-index: 13
Works: 43
Citations: 661

Most-cited papers

Induction of long-term potentiation and depression is reflected by corresponding changes in secretion of endogenous brain-derived neurotrophic factor.
G. Aicardi, E. Argilli, Silvia Cappello, S. Santi +3 more
2004Proceedings of the National Academy of Sciences of the United States of America262 citations Open access
Semantic Scholar
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
A. Accogli, Sara Calabretta, J. St‐Onge, Nassima Boudrahem-Addour +28 more
2019American Journal of Human Genetics48 citations Open access
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
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
A. R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, S. Bertelli +35 more
2021American Journal of Human Genetics37 citations Open access
Semantic Scholar
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
A. Vetro, Cristiana Pelorosso, S. Balestrini, A. Masi +117 more
2023American Journal of Human Genetics35 citations Open access
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
M. Jeanne, Hélène Demory, Aubin Moutal, M. Vuillaume +37 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis
Xu-Yu Qian, Ellen M. DeGennaro, Maya Talukdar, Shyam K. Akula +31 more
2022Developmental Cell22 citations Open access
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
G. Lemire, A. Sanchis-Juan, Kathryn A. Russell, S. Baxter +60 more
2024American Journal of Human Genetics19 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
H. Hengel, Shabab B. Hannan, S. Dyack, S. Mackay +42 more
2021American Journal of Human Genetics18 citations Open access
Semantic Scholar
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
F. Langhammer, R. Maroofian, Rueda Badar, A. Gregor +60 more
2023Genetics in Medicine16 citations Open access
Semantic Scholar
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
A. Holtz, Rachel Vancoil, Elizabeth A VanSickle, D. A. Carere +44 more
2022Genetics in Medicine16 citations Open access
Semantic Scholar
Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys
Ozge Oztan, Catherine F. Talbot, E. Argilli, Alyssa C Maness +7 more
2021Molecular Autism12 citations Open access
Semantic Scholar
ARF1-related disorder: phenotypic and molecular spectrum
J. de Sainte Agathe, B. Pode-Shakked, Sophie Naudion, V. Michaud +45 more
2023Journal of Medical Genetics9 citations Open access
Semantic Scholar
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +137 more
2025Annals of Neurology8 citations Open access
Semantic Scholar
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
M. Nakashima, E. Argilli, Sayaka Nakano, E. Sherr +2 more
2022Journal of Human Genetics6 citations
Semantic Scholar
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +123 more
2024medRxiv5 citations Open access
Semantic Scholar
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
A. Accogli, M. Zaki, M. Al-Owain, Mansour Y. Otaif +42 more
2023Brain Communications4 citations Open access
Semantic Scholar
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
M. Gafner, M. Michelson, E. Argilli, Keren Yosovich +9 more
2021Journal of Human Genetics4 citations Open access
Semantic Scholar
CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, S. Caraffi, Manuela Napoli +54 more
2025Clinical Genetics3 citations Open access
Semantic Scholar
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, E. Argilli +73 more
2025European Journal of Human Genetics3 citations Open access
Semantic Scholar
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
Simon P. Früh, Sami Boudkkazi, P. Koppensteiner, V. Sereikaite +34 more
2024Science Advances3 citations Open access
Semantic Scholar
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, Eugene Y. Liang +48 more
2026Human Molecular Genetics2 citations Open access
Semantic Scholar
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
Philip M. Boone, Kamli N. W. Faour, Kiana Mohajeri, J. Lemanski +82 more
2023Genetics in Medicine Open2 citations Open access
Semantic Scholar
MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Sebastián Ortiz De la Rosa, Valentina Rizzo, R. Jauss, T. Bartolomaeus +25 more
2025Epilepsia1 citations Open access
Semantic Scholar
De novo variants of NALCN differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
N. Hadouiri, L. P. García, R. Baudat, P. Parra-Díaz +41 more
2025medRxiv1 citations Open access
Semantic Scholar
Clinical spectrum, molecular and functional analysis of variants in MACF1
Jordy Dekker, R. Schot, K. Aldinger, D. Everman +86 more
2025American Journal of Human Genetics1 citations Open access
Semantic Scholar
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Carolyn Le, E. Argilli, Elizabeth George, T. Kalaycı +22 more
2024medRxiv1 citations Open access
Semantic Scholar
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
S. Heide, E. Argilli, S. Valence, L. Boutaud +18 more
2023Journal of Medical Genetics1 citations Open access
Semantic Scholar
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
A. Sanchis-Juan, Yulia Mostovoy, S. Stenton, V. Ganesh +82 more
2026medRxiv0 citations Open access
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
RBMX functional retrocopy safeguards brain development in a species-dependent context.
P. Tilliole, C. Mattausch, Peggy Tilly, E. Leitão +47 more
2026Brain : a journal of neurology0 citations
Semantic Scholar
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, E. Argilli +73 more
2026European Journal of Human Genetics0 citations
Semantic Scholar
Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities
Guido I. Guberman, M. Scala, P. Striano, Federico Zara +4 more
2026Pediatric Neurology0 citations
Semantic Scholar
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities
Carolyn Le, T. Kalaycı, Z. Uyguner, Birsen Karaman +31 more
2026Journal of Medical Genetics0 citations Open access
Semantic Scholar
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology
M. Singh, S. Stenton, E. Groopman, M. Singer-Berk +40 more
2026medRxiv0 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
RBMX functional retrocopy safeguards brain development
P. Tilliole, C. Mattausch, P. Tilly, E. LeitÃ£o +41 more
2025medRxiv0 citations Open access
Semantic Scholar
Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
E. Argilli, Caleb Yang, Carolyn Le, Amanda M. Elashoff +19 more
2025medRxiv0 citations Open access
Semantic Scholar
De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities
Lyna Siafa, E. Argilli, E. Sherr, K. Myers
2022Pediatric Neurology0 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
Gene discovery in cerebral connectivity: Mapping the brain's roads
E. Argilli, D. R. Matalon, Brieana Fregeau, V. D. de Santiago +9 more
20200 citations
Semantic Scholar

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