Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Orphanet Journal Of Rare Diseases
Marakhonov, Andrey V AV; Voskresenskaya, Anna A AA; Ballesta, Maria Jose MJ; Konovalov, Fedor A FA; Vasilyeva, Tatyana A TA; Blanco-Kelly, Fiona F; Pozdeyeva, Nadezhda A NA; Kadyshev, Vitaly V VV; López-González, Vanesa V; Guillen, Encarna E; Ayuso, Carmen C; Zinchenko, Rena A RA; Corton, Marta M
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Bmc Medical Genetics
Javadiyan, Shari S; Craig, Jamie E JE; Sharma, Shiwani S; Lower, Karen M KM; Casey, Theresa T; Haan, Eric E; Souzeau, Emmanuelle E; Burdon, Kathryn P KP