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Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: ferilli m. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: ferilli m. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
Lower Urinary Tract Dysfunction in Pediatric Patients with Multiple Sclerosis: Diagnostic and Management Concerns.
Sollini ML, Pellegrino C, Barone G, Capitanucci ML, Zaccara AM, Crescentini L, Castelli E, Della Bella G, Scorletti F, Papetti L, Monte G, Ferilli MAN, Valeriani M, Mosiello G. Sollini ML, et al. Among authors: ferilli man. Children (Basel). 2024 May 16;11(5):601. doi: 10.3390/children11050601. Children (Basel). 2024. PMID: 38790596 Free PMC article.
Structural and functional analysis of the active cow rumen's microbial community provides a catalogue of genes and microbes participating in the deconstruction of cardoon biomass.
Firrincieli A, Minuti A, Cappelletti M, Ferilli M, Ajmone-Marsan P, Bani P, Petruccioli M, Harfouche AL. Firrincieli A, et al. Among authors: ferilli m. Biotechnol Biofuels Bioprod. 2024 Apr 8;17(1):53. doi: 10.1186/s13068-024-02495-4. Biotechnol Biofuels Bioprod. 2024. PMID: 38589938 Free PMC article.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: ferilli m. Eur J Hum Genet. 2024 Jul;32(7):819-826. doi: 10.1038/s41431-024-01597-9. Epub 2024 Mar 25. Eur J Hum Genet. 2024. PMID: 38528056
60 results