Association Analysis of Candidate Variants in Admixed Brazilian Patients With Genetic Generalized Epilepsies.
Frontiers In Genetics
Kaibara, Felipe S FS; de Araujo, Tânia K TK; Araujo, Patricia A O R A PAORA; Alvim, Marina K M MKM; Yasuda, Clarissa L CL; Cendes, Fernando F; Lopes-Cendes, Iscia I; Secolin, Rodrigo R
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
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.
Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer.
Clinical Genitourinary Cancer
O'Donnell, Peter H PH; Alanee, Shaheen S; Stratton, Kelly L KL; Garcia-Grossman, Ilana R IR; Cao, Hongyuan H; Ostrovnaya, Irina I; Plimack, Elizabeth R ER; Manschreck, Christopher C; Ganshert, Cory C; Smith, Norm D ND; Steinberg, Gary D GD; Vijai, Joseph J; Offit, Kenneth K; Stadler, Walter M WM; Bajorin, Dean F DF
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.
Molecular Genetics & Genomic Medicine
Wight, Jenny E JE; Nguyen, Viet-Huong VH; Medina, Marco T MT; Patterson, Christopher C; Durón, Reyna M RM; Molina, Yolly Y; Lin, Yu-Chen YC; Martínez-Juárez, Iris E IE; Ochoa, Adriana A; Jara-Prado, Aurelio A; Tanaka, Miyabi M; Bai, Dongsheng D; Aftab, Sumaya S; Bailey, Julia N JN; Delgado-Escueta, Antonio V AV