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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1983 1
2011 2
2012 1
2014 6
2015 8
2016 8
2017 7
2018 11
2019 17
2020 12
2021 24
2022 23
2023 14

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122 results

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Page 1
Diagnostic Approach to Macrocephaly in Children.
Accogli A, Geraldo AF, Piccolo G, Riva A, Scala M, Balagura G, Salpietro V, Madia F, Maghnie M, Zara F, Striano P, Tortora D, Severino M, Capra V. Accogli A, et al. Front Pediatr. 2022 Jan 14;9:794069. doi: 10.3389/fped.2021.794069. eCollection 2021. Front Pediatr. 2022. PMID: 35096710 Free PMC article. Review.
Neurogenesis, neuronal migration, and axon guidance.
Accogli A, Addour-Boudrahem N, Srour M. Accogli A, et al. Handb Clin Neurol. 2020;173:25-42. doi: 10.1016/B978-0-444-64150-2.00004-6. Handb Clin Neurol. 2020. PMID: 32958178 Review.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: accogli a. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: accogli a. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: accogli a. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Diagnostic Approach to Cerebellar Hypoplasia.
Accogli A, Addour-Boudrahem N, Srour M. Accogli A, et al. Cerebellum. 2021 Aug;20(4):631-658. doi: 10.1007/s12311-020-01224-5. Epub 2021 Feb 3. Cerebellum. 2021. PMID: 33534089 Review.
Chiari malformation type I: what information from the genetics?
Capra V, Iacomino M, Accogli A, Pavanello M, Zara F, Cama A, De Marco P. Capra V, et al. Among authors: accogli a. Childs Nerv Syst. 2019 Oct;35(10):1665-1671. doi: 10.1007/s00381-019-04322-w. Epub 2019 Aug 5. Childs Nerv Syst. 2019. PMID: 31385087 Review.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M. Riva A, et al. Among authors: accogli a. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
Hydranencephaly in CENPJ-related Seckel syndrome.
Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Among authors: accogli a. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884
122 results