| Year |
Citation |
Score |
| 2023 |
Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, et al. Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. Journal of Medical Genetics. PMID 37857482 DOI: 10.1136/jmg-2023-109293 |
0.549 |
|
| 2023 |
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, et al. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Communications. 5: fcad222. PMID 37794925 DOI: 10.1093/braincomms/fcad222 |
0.325 |
|
| 2023 |
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, et al. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. American Journal of Human Genetics. PMID 37421948 DOI: 10.1016/j.ajhg.2023.06.008 |
0.529 |
|
| 2023 |
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, ... ... Argilli E, et al. -related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics. PMID 37185208 DOI: 10.1136/jmg-2022-108803 |
0.525 |
|
| 2022 |
Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of Human Genetics. PMID 36536096 DOI: 10.1038/s10038-022-01106-0 |
0.578 |
|
| 2022 |
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, ... ... Argilli E, et al. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570. PMID 36323681 DOI: 10.1038/s41467-022-34264-y |
0.503 |
|
| 2022 |
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, ... ... Argilli E, et al. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell. PMID 36228617 DOI: 10.1016/j.devcel.2022.09.011 |
0.553 |
|
| 2022 |
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, ... ... Argilli E, et al. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35980381 DOI: 10.1016/j.gim.2022.07.005 |
0.532 |
|
| 2022 |
Siafa L, Argilli E, Sherr EH, Myers KA. De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric Neurology. 131: 1-3. PMID 35436645 DOI: 10.1016/j.pediatrneurol.2022.03.005 |
0.535 |
|
| 2021 |
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. Journal of Human Genetics. PMID 34400773 DOI: 10.1038/s10038-021-00971-5 |
0.56 |
|
| 2021 |
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, et al. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics. PMID 34321323 DOI: 10.1136/jmedgenet-2020-107470 |
0.515 |
|
| 2021 |
Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ. Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Molecular Autism. 12: 50. PMID 34238350 DOI: 10.1186/s13229-021-00442-w |
0.457 |
|
| 2021 |
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, ... ... Argilli E, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. American Journal of Human Genetics. PMID 34186028 DOI: 10.1016/j.ajhg.2021.06.003 |
0.581 |
|
| 2021 |
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, ... ... Argilli E, et al. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. PMID 34022130 DOI: 10.1016/j.ajhg.2021.04.024 |
0.554 |
|
| 2021 |
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, ... ... Argilli E, et al. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American Journal of Human Genetics. PMID 33894126 DOI: 10.1016/j.ajhg.2021.04.004 |
0.58 |
|
| 2019 |
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, ... ... Argilli E, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868. PMID 31585109 DOI: 10.1016/J.Ajhg.2019.09.005 |
0.555 |
|
| 2013 |
Madhavan A, Argilli E, Bonci A, Whistler JL. Loss of D2 dopamine receptor function modulates cocaine-induced glutamatergic synaptic potentiation in the ventral tegmental area. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 12329-36. PMID 23884939 DOI: 10.1523/Jneurosci.0809-13.2013 |
0.57 |
|
| 2012 |
Güler AD, Rainwater A, Parker JG, Jones GL, Argilli E, Arenkiel BR, Ehlers MD, Bonci A, Zweifel LS, Palmiter RD. Transient activation of specific neurons in mice by selective expression of the capsaicin receptor. Nature Communications. 3: 746. PMID 22434189 DOI: 10.1038/Ncomms1749 |
0.526 |
|
| 2010 |
Ungless MA, Argilli E, Bonci A. Effects of stress and aversion on dopamine neurons: implications for addiction. Neuroscience and Biobehavioral Reviews. 35: 151-6. PMID 20438754 DOI: 10.1016/J.Neubiorev.2010.04.006 |
0.665 |
|
| 2008 |
Argilli E, Sibley DR, Malenka RC, England PM, Bonci A. Mechanism and time course of cocaine-induced long-term potentiation in the ventral tegmental area. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 9092-100. PMID 18784289 DOI: 10.1523/Jneurosci.1001-08.2008 |
0.63 |
|
| 2008 |
Zweifel LS, Argilli E, Bonci A, Palmiter RD. Role of NMDA receptors in dopamine neurons for plasticity and addictive behaviors. Neuron. 59: 486-96. PMID 18701073 DOI: 10.1016/J.Neuron.2008.05.028 |
0.575 |
|
| 2006 |
Schilström B, Yaka R, Argilli E, Suvarna N, Schumann J, Chen BT, Carman M, Singh V, Mailliard WS, Ron D, Bonci A. Cocaine enhances NMDA receptor-mediated currents in ventral tegmental area cells via dopamine D5 receptor-dependent redistribution of NMDA receptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 8549-58. PMID 16914681 DOI: 10.1523/Jneurosci.5179-05.2006 |
0.632 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2004 |
Aicardi G, Argilli E, Cappello S, Santi S, Riccio M, Thoenen H, Canossa M. Induction of long-term potentiation and depression is reflected by corresponding changes in secretion of endogenous brain-derived neurotrophic factor. Proceedings of the National Academy of Sciences of the United States of America. 101: 15788-92. PMID 15505222 DOI: 10.1073/Pnas.0406960101 |
0.285 |
|
| 2023 |
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, ... ... Argilli E, et al. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a Journal of Neurology. PMID 38038360 DOI: 10.1093/brain/awad403 |
0.237 |
|
| 2023 |
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, ... ... Argilli E, et al. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100885. PMID 37165955 DOI: 10.1016/j.gim.2023.100885 |
0.188 |
|
| 2024 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... Argilli E, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics. PMID 38565148 DOI: 10.1016/j.ajhg.2024.03.008 |
0.15 |
|
| Hide low-probability matches. |