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
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Bmc Medical Genomics
Zlotina, Anna A; Melnik, Olesia O; Fomicheva, Yulia Y; Skitchenko, Rostislav R; Sergushichev, Alexey A; Shagimardanova, Elena E; Gusev, Oleg O; Gazizova, Guzel G; Loevets, Tatiana T; Vershinina, Tatiana T; Kozyrev, Ivan I; Gordeev, Mikhail M; Vasichkina, Elena E; Pervunina, Tatiana T; Kostareva, Anna A
Publication Date: 2020-11-20
Variant appearance in text: PSPH: R65H; rs200442078
Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target.
Haematologica
Larose, Hugo H; Prokoph, Nina N; Matthews, Jamie D JD; Schlederer, Michaela M; Högler, Sandra S; Alsulami, Ali F AF; Ducray, Stephen P SP; Nuglozeh, Edem E; Fazaludeen, Feroze M S FMS; Elmouna, Ahmed A; Ceccon, Monica M; Mologni, Luca L; Gambacorti-Passerini, Carlo C; Hoefler, Gerald G; Lobello, Cosimo C; Pospisilova, Sarka S; Janikova, Andrea A; Woessmann, Wilhelm W; Damm-Welk, Christine C; Zimmermann, Martin M; Federova, Alina A; Malone, Andrea A; Smith, Owen O; Wasik, Mariusz M; Inghirami, Giorgio G; Lamant, Laurence L; Blundell, Tom L TL; Klapper, Wolfram W; Merkel, Olaf O; Burke, Amos G A AGA; Mian, Shahid S; Ashankyty, Ibraheem I; Kenner, Lukas L; Turner, Suzanne D SD
Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.
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
Publication Date: 2019-02-27
Variant appearance in text: PSPH: 194G>A; Arg65His; rs200442078
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: PSPH: R65H; rs200442078
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.
Comprehensive Molecular Profiling Identifies FOXM1 as a Key Transcription Factor for Meningioma Proliferation.
Cell Reports
Vasudevan, Harish N HN; Braunstein, Steve E SE; Phillips, Joanna J JJ; Pekmezci, Melike M; Tomlin, Bryan A BA; Wu, Ashley A; Reis, Gerald F GF; Magill, Stephen T ST; Zhang, Jie J; Feng, Felix Y FY; Nicholaides, Theodore T; Chang, Susan M SM; Sneed, Penny K PK; McDermott, Michael W MW; Berger, Mitchel S MS; Perry, Arie A; Raleigh, David R DR
Publication Date: 2018-03-27
Variant appearance in text: PSPH: 194G>A; Arg65His
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: PSPH: 194G>A; R65H; rs200442078
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017
Variant appearance in text: PSPH: 194G>A; R65H; rs200442078