Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: TSEN54: 919G>T; Ala307Ser; rs113994152
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Npj Genomic Medicine
Scocchia, Alicia A; Wigby, Kristen M KM; Masser-Frye, Diane D; Del Campo, Miguel M; Galarreta, Carolina I CI; Thorpe, Erin E; McEachern, Julia J; Robinson, Keisha K; Gross, Andrew A; , ; Ajay, Subramanian S SS; Rajan, Vani V; Perry, Denise L DL; Belmont, John W JW; Bentley, David R DR; Jones, Marilyn C MC; Taft, Ryan J RJ
Publication Date: 2019
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: TSEN54: A307S; rs113994152
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Npj Genomic Medicine
Stavropoulos, Dimitri J DJ; Merico, Daniele D; Jobling, Rebekah R; Bowdin, Sarah S; Monfared, Nasim N; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Pellecchia, Giovanna G; Yuen, Ryan K C RKC; Szego, Michael J MJ; Hayeems, Robin Z RZ; Shaul, Randi Zlotnik RZ; Brudno, Michael M; Girdea, Marta M; Frey, Brendan B; Alipanahi, Babak B; Ahmed, Sohnee S; Babul-Hirji, Riyana R; Porras, Ramses Badilla RB; Carter, Melissa T MT; Chad, Lauren L; Chaudhry, Ayeshah A; Chitayat, David D; Doust, Soghra Jougheh SJ; Cytrynbaum, Cheryl C; Dupuis, Lucie L; Ejaz, Resham R; Fishman, Leona L; Guerin, Andrea A; Hashemi, Bita B; Helal, Mayada M; Hewson, Stacy S; Inbar-Feigenberg, Michal M; Kannu, Peter P; Karp, Natalya N; Kim, Raymond R; Kronick, Jonathan J; Liston, Eriskay E; MacDonald, Heather H; Mercimek-Mahmutoglu, Saadet S; Mendoza-Londono, Roberto R; Nasr, Enas E; Nimmo, Graeme G; Parkinson, Nicole N; Quercia, Nada N; Raiman, Julian J; Roifman, Maian M; Schulze, Andreas A; Shugar, Andrea A; Shuman, Cheryl C; Sinajon, Pierre P; Siriwardena, Komudi K; Weksberg, Rosanna R; Yoon, Grace G; Carew, Chris C; Erickson, Raith R; Leach, Richard A RA; Klein, Robert R; Ray, Peter N PN; Meyn, M Stephen MS; Scherer, Stephen W SW; Cohn, Ronald D RD; Marshall, Christian R CR
Publication Date: 2016-01-13
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
With expanded carrier screening, founder populations run the risk of being overlooked.
Journal Of Community Genetics
Mathijssen, Inge B IB; van Maarle, Merel C MC; Kleiss, Iris I M IIM; Redeker, Egbert J W EJW; Ten Kate, Leo P LP; Henneman, Lidewij L; Meijers-Heijboer, Hanne H
Publication Date: 2017-10
Variant appearance in text: TSEN54: 919G>T; Ala307Ser
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Publication Date: 2015-09-16
Variant appearance in text: TSEN54: A307S; rs113994152
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: TSEN54: A307S; rs113994152
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Orphanet Journal Of Rare Diseases
Eggens, Veerle Rc VR; Barth, Peter G PG; Niermeijer, Jikke-Mien F JM; Berg, Jonathan N JN; Darin, Niklas N; Dixit, Abhijit A; Fluss, Joel J; Foulds, Nicola N; Fowler, Darren D; Hortobágyi, Tibor T; Jacques, Thomas T; King, Mary D MD; Makrythanasis, Periklis P; Máté, Adrienn A; Nicoll, James A R JA; O'Rourke, Declan D; Price, Sue S; Williams, Andrew N AN; Wilson, Louise L; Suri, Mohnish M; Sztriha, Laszlo L; Dijns-de Wissel, Marit B MB; van Meegen, Mia T MT; van Ruissen, Fred F; Aronica, Eleonora E; Troost, Dirk D; Majoie, Charles Blm CB; Marquering, Henk A HA; Poll-Thé, Bwee Tien BT; Baas, Frank F
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
European Journal Of Human Genetics : Ejhg
Namavar, Yasmin Y; Chitayat, David D; Barth, Peter G PG; van Ruissen, Fred F; de Wissel, Marit B MB; Poll-The, Bwee Tien BT; Silver, Rachel R; Baas, Frank F
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
American Journal Of Medical Genetics. Part A
Graham, John M JM; Spencer, Andrew H AH; Grinberg, Inessa I; Niesen, Charles E CE; Platt, Lawrence D LD; Maya, Marcel M; Namavar, Yasmin Y; Baas, Frank F; Dobyns, William B WB