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Page 1
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: radio fc. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M. Bauer CK, et al. Among authors: radio fc. Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001. Am J Hum Genet. 2018. PMID: 30290154 Free PMC article.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: radio fc. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Among authors: radio fc. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: radio fc. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. Ciolfi A, et al. Among authors: radio fc. Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0. Clin Epigenetics. 2020. PMID: 31910894 Free PMC article.
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Dong X, et al. Among authors: radio fc. Am J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197075 Free PMC article.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. Cordeddu V, et al. Among authors: radio fc. Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3. Clin Genet. 2020. PMID: 32415735
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: radio fc. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
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