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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: palombo f. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
H3M2: detection of runs of homozygosity from whole-exome sequencing data.
Magi A, Tattini L, Palombo F, Benelli M, Gialluisi A, Giusti B, Abbate R, Seri M, Gensini GF, Romeo G, Pippucci T. Magi A, et al. Among authors: palombo f. Bioinformatics. 2014 Oct 15;30(20):2852-9. doi: 10.1093/bioinformatics/btu401. Epub 2014 Jun 24. Bioinformatics. 2014. PMID: 24966365
Epilepsy with auditory features: A heterogeneous clinico-molecular disease.
Pippucci T, Licchetta L, Baldassari S, Palombo F, Menghi V, D'Aurizio R, Leta C, Stipa C, Boero G, d'Orsi G, Magi A, Scheffer I, Seri M, Tinuper P, Bisulli F. Pippucci T, et al. Among authors: palombo f. Neurol Genet. 2015 May 14;1(1):e5. doi: 10.1212/NXG.0000000000000005. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066544 Free PMC article.
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F. Magini P, et al. Among authors: palombo f. Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612164
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: palombo f. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A. Marconi C, et al. Among authors: palombo f. Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27. Blood. 2019. PMID: 30591527 Free article.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Magini P, et al. Among authors: palombo f. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5. Am J Hum Genet. 2019. PMID: 31495489 Free PMC article.
421 results