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
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21
Variant appearance in text: ZNF804A: E542K; rs4667001
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: ZNF804A: 1624G>A; E542K; rs4667001
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: ZNF804A: 1624G>A; E542K; rs4667001
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: ZNF804A: E542K; rs4667001
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
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: ZNF804A: E542K; rs4667001
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
Publication Date: 2014
Variant appearance in text: ZNF804A: E542K; rs4667001
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Genome Biology
Colonna, Vincenza V; Ayub, Qasim Q; Chen, Yuan Y; Pagani, Luca L; Luisi, Pierre P; Pybus, Marc M; Garrison, Erik E; Xue, Yali Y; Tyler-Smith, Chris C; , ; Abecasis, Goncalo R GR; Auton, Adam A; Brooks, Lisa D LD; DePristo, Mark A MA; Durbin, Richard M RM; Handsaker, Robert E RE; Kang, Hyun Min HM; Marth, Gabor T GT; McVean, Gil A GA
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.
Plos One
Blake, Jonathon J; Riddell, Andrew A; Theiss, Susanne S; Gonzalez, Alexis Perez AP; Haase, Bettina B; Jauch, Anna A; Janssen, Johannes W G JW; Ibberson, David D; Pavlinic, Dinko D; Moog, Ute U; Benes, Vladimir V; Runz, Heiko H
Publication Date: 2014
Variant appearance in text: ZNF804A: E542K; rs4667001
Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex.
Schizophrenia Research
Guella, Ilaria I; Sequeira, Adolfo A; Rollins, Brandi B; Morgan, Ling L; Myers, Richard M RM; Watson, Stanley J SJ; Akil, Huda H; Bunney, William E WE; Delisi, Lynn E LE; Byerley, William W; Vawter, Marquis P MP
Variation in psychosis gene ZNF804A is associated with a refined schizotypy phenotype but not neurocognitive performance in a large young male population.
Schizophrenia Bulletin
Stefanis, Nicholas C NC; Hatzimanolis, Alex A; Avramopoulos, Dimitrios D; Smyrnis, Nikolaos N; Evdokimidis, Ioannis I; Stefanis, Costas N CN; Weinberger, Daniel R DR; Straub, Richard E RE
Effects of cis-regulatory variation differ across regions of the adult human brain.
Human Molecular Genetics
Buonocore, Federica F; Hill, Matthew J MJ; Campbell, Colin D CD; Oladimeji, Paul B PB; Jeffries, Aaron R AR; Troakes, Claire C; Hortobagyi, Tibor T; Williams, Brenda P BP; Cooper, Jonathan D JD; Bray, Nicholas J NJ
Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder.
Molecular Psychiatry
Williams, H J HJ; Norton, N N; Dwyer, S S; Moskvina, V V; Nikolov, I I; Carroll, L L; Georgieva, L L; Williams, N M NM; Morris, D W DW; Quinn, E M EM; Giegling, I I; Ikeda, M M; Wood, J J; Lencz, T T; Hultman, C C; Lichtenstein, P P; Thiselton, D D; Maher, B S BS; , ; Malhotra, A K AK; Riley, B B; Kendler, K S KS; Gill, M M; Sullivan, P P; Sklar, P P; Purcell, S S; Nimgaonkar, V L VL; Kirov, G G; Holmans, P P; Corvin, A A; Rujescu, D D; Craddock, N N; Owen, M J MJ; O'Donovan, M C MC