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Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E. Carraro M, et al. Among authors: murgia a. Hum Mutat. 2019 Sep;40(9):1330-1345. doi: 10.1002/humu.23823. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31144778 Free PMC article.
Connexin 26 35delG does not represent a mutational hotspot.
Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. Rothrock CR, et al. Among authors: murgia a. Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9. Hum Genet. 2003. PMID: 12684873
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C. Leonardi E, et al. Among authors: murgia a. Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21. Epilepsy Res. 2018. PMID: 29179159
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: murgia a. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
245 results