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

Year Number of Results
2003 1
2004 1
2006 1
2007 1
2008 1
2009 2
2010 3
2011 3
2012 4
2013 1
2014 2
2015 6
2016 5
2017 8
2018 15
2019 11
2020 19
2021 17
2022 15
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104 results
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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: torella a. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: torella a. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: torella a. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Among authors: torella a. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
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: torella a. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
BROX haploinsufficiency in familial nonmedullary thyroid cancer.
Pasquali D, Torella A, Accardo G, Esposito D, Del Vecchio Blanco F, Salvatore D, Sabatino P, Pacini F, Barbato F, Castagna MG, Cantara S, Nigro V. Pasquali D, et al. Among authors: torella a. J Endocrinol Invest. 2021 Jan;44(1):165-171. doi: 10.1007/s40618-020-01286-6. Epub 2020 May 8. J Endocrinol Invest. 2021. PMID: 32385852
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F. Kolvenbach CM, et al. Among authors: torella a. Am J Med Genet A. 2021 Dec;185(12):3784-3792. doi: 10.1002/ajmg.a.62447. Epub 2021 Aug 2. Am J Med Genet A. 2021. PMID: 34338422
Therapeutic homology-independent targeted integration in retina and liver.
Tornabene P, Ferla R, Llado-Santaeularia M, Centrulo M, Dell'Anno M, Esposito F, Marrocco E, Pone E, Minopoli R, Iodice C, Nusco E, Rossi S, Lyubenova H, Manfredi A, Di Filippo L, Iuliano A, Torella A, Piluso G, Musacchia F, Surace EM, Cacchiarelli D, Nigro V, Auricchio A. Tornabene P, et al. Among authors: torella a. Nat Commun. 2022 Apr 12;13(1):1963. doi: 10.1038/s41467-022-29550-8. Nat Commun. 2022. PMID: 35414130 Free PMC article.
A new family with transportinopathy: increased clinical heterogeneity.
Angelini C, Marozzo R, Pinzan E, Pegoraro V, Molnar MJ, Torella A, Nigro V. Angelini C, et al. Among authors: torella a. Ther Adv Neurol Disord. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433. eCollection 2019. Ther Adv Neurol Disord. 2019. PMID: 31217819 Free PMC article.
104 results