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Year Number of Results
1988 1
1992 1
2005 1
2006 3
2007 7
2008 6
2009 7
2010 5
2011 8
2012 4
2013 2
2014 6
2015 9
2016 5
2017 5
2018 6
2019 5
2020 5
2021 8
2022 6
2023 5
2024 2

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88 results

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Page 1
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: mencarelli ma. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: mencarelli ma. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: mencarelli ma. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: mencarelli ma. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: mencarelli ma. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.
Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, Ait-Idir D, Conti G, Iezzi L, Maggio MC, Cattalini M, Torre F, Lopalco G, Verrecchia E, de Paulis A, Sahin A, Insalaco A, Sfikakis PP, Marino A, Frassi M, Ogunjimi B, Opris-Belinski D, Parronchi P, Emmi G, Shahram F, Ciccia F, Piga M, Hernández-Rodríguez J, Pereira RMR, Alessio M, Naddei R, Olivieri AN, Giudice ED, Sfriso P, Ruscitti P, Gobbi FL, Kucuk H, Sota J, Hussein MA, Malizia G, Jahnz-Różyk K, Sari-Hamidou R, Romeo M, Ricci F, Cardinale F, Iannone F, Casa FD, Natale MF, Laskari K, Giani T, Franceschini F, Sabato V, Yildirim D, Caggiano V, Hegazy MT, Marzo RD, Kucharczyk A, Khellaf G, Tarsia M, Almaghlouth IA, Laymouna AH, Mastrorilli V, Dotta L, Benacquista L, Grosso S, Crisafulli F, Parretti V, Giordano HF, Mahmoud AAA, Nuzzolese R, Musso M, Chighizola CB, Gentileschi S, Morrone M, Cola ID, Spedicato V, Giardini HAM, Vasi I, Renieri A, Fabbiani A, Mencarelli MA, Frediani B, Balistreri A, Tosi GM, Fabiani C, Lidar M, Rigante D, Cantarini L. Gaggiano C, et al. Among authors: mencarelli ma. Front Med (Lausanne). 2022 Sep 9;9:980679. doi: 10.3389/fmed.2022.980679. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36160138 Free PMC article.
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN. Khan A, et al. Among authors: mencarelli ma. Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35782384 Free PMC article.
Non-collagen genes role in digenic Alport syndrome.
Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. Among authors: mencarelli ma. BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5. BMC Nephrol. 2019. PMID: 30808327 Free PMC article.
2q24-q31 deletion: report of a case and review of the literature.
Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: mencarelli ma. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.
88 results