Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Blood Advances
Palma-Barqueros, Verónica V; Bury, Loredana L; Kunishima, Shinji S; Lozano, Maria L ML; Rodriguez Alen, Agustin A; Revilla, Nuria N; Bohdan, Natalia N; Padilla, José J; Fernandez-Perez, Maria Piedad MP; de la Morena-Barrio, Maria Eugenia ME; Marín-Quilez, Ana A; Benito, Rocío R; López-Fernández, María Fernanda MF; Marcellini-Antonio, Shally S; Zamora-Cánovas, Ana A; Vicente, Vicente V; Martinez, Constantino C; Gresele, Paolo P; Bastida, Jose Maria JM; Rivera, Jose J
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Blood Advances
Palma-Barqueros, Verónica V; Bury, Loredana L; Kunishima, Shinji S; Lozano, María Luisa ML; Rodríguez-Alen, Augustín A; Revilla, Nuria N; Bohdan, Natalia N; Padilla, José J; Fernández-Pérez, María P MP; de la Morena-Barrio, María Eugenia ME; Marín-Quilez, Ana A; Benito, Rocío R; López-Fernández, María F MF; Marcellini, Shally S; Zamora-Cánovas, Ana A; Vicente, Vicente V; Martínez, Constantino C; Gresele, Paolo P; Bastida, José M JM; Rivera, José J
Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.
Journal Of The Neurological Sciences
Wahab, Kolawole Wasiu KW; Tiwari, Hemant K HK; Ovbiagele, Bruce B; Sarfo, Fred F; Akinyemi, Rufus R; Traylor, Matthew M; Rotimi, Charles C; Markus, Hugh Stephen HS; Owolabi, Mayowa M
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Th Open : Companion Journal To Thrombosis And Haemostasis
Andres, Oliver O; König, Eva-Maria EM; Althaus, Karina K; Bakchoul, Tamam T; Bugert, Peter P; Eber, Stefan S; Knöfler, Ralf R; Kunstmann, Erdmute E; Manukjan, Georgi G; Meyer, Oliver O; Strauß, Gabriele G; Streif, Werner W; Thiele, Thomas T; Wiegering, Verena V; Klopocki, Eva E; Schulze, Harald H; ,
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.
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
High-throughput allele-specific expression across 250 environmental conditions.
Genome Research
Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.
Molecular Autism
Nuytens, Kim K; Tuand, Krizia K; Di Michele, Michela M; Boonen, Kurt K; Waelkens, Etienne E; Freson, Kathleen K; Creemers, John Wm JW
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
Plos Genetics
Qayyum, Rehan R; Snively, Beverly M BM; Ziv, Elad E; Nalls, Michael A MA; Liu, Yongmei Y; Tang, Weihong W; Yanek, Lisa R LR; Lange, Leslie L; Evans, Michele K MK; Ganesh, Santhi S; Austin, Melissa A MA; Lettre, Guillaume G; Becker, Diane M DM; Zonderman, Alan B AB; Singleton, Andrew B AB; Harris, Tamara B TB; Mohler, Emile R ER; Logsdon, Benjamin A BA; Kooperberg, Charles C; Folsom, Aaron R AR; Wilson, James G JG; Becker, Lewis C LC; Reiner, Alexander P AP
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Haematologica
Noris, Patrizia P; Perrotta, Silverio S; Bottega, Roberta R; Pecci, Alessandro A; Melazzini, Federica F; Civaschi, Elisa E; Russo, Sabina S; Magrin, Silvana S; Loffredo, Giuseppe G; Di Salvo, Veronica V; Russo, Giovanna G; Casale, Maddalena M; De Rocco, Daniela D; Grignani, Claudio C; Cattaneo, Marco M; Baronci, Carlo C; Dragani, Alfredo A; Albano, Veronica V; Jankovic, Momcilo M; Scianguetta, Saverio S; Savoia, Anna A; Balduini, Carlo L CL