TSEN54 c.919G>T ;(p.A307S)

Variant ID: 17-73518081-G-T

NM_207346.2(TSEN54):c.919G>T;(p.A307S)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Frontiers In Genetics
Tran Mau-Them, Frédéric F; Delanne, Julian J; Denommé-Pichon, Anne-Sophie AS; Safraou, Hana H; Bruel, Ange-Line AL; Vitobello, Antonio A; Garde, Aurore A; Nambot, Sophie S; Bourgon, Nicolas N; Racine, Caroline C; Sorlin, Arthur A; Moutton, Sébastien S; Marle, Nathalie N; Rousseau, Thierry T; Sagot, Paul P; Simon, Emmanuel E; Vincent-Delorme, Catherine C; Boute, Odile O; Colson, Cindy C; Petit, Florence F; Legendre, Marine M; Naudion, Sophie S; Rooryck, Caroline C; Prouteau, Clément C; Colin, Estelle E; Guichet, Agnès A; Ziegler, Alban A; Bonneau, Dominique D; Morel, Godelieve G; Fradin, Mélanie M; Lavillaureix, Alinoé A; Quelin, Chloé C; Pasquier, Laurent L; Odent, Sylvie S; Vera, Gabriella G; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Brehin, Anne-Claire AC; Putoux, Audrey A; Attia, Jocelyne J; Abel, Carine C; Blanchet, Patricia P; Wells, Constance F CF; Deiller, Caroline C; Nizon, Mathilde M; Mercier, Sandra S; Vincent, Marie M; Isidor, Bertrand B; Amiel, Jeanne J; Dard, Rodolphe R; Godin, Manon M; Gruchy, Nicolas N; Jeanne, Médéric M; Schaeffer, Elise E; Maillard, Pierre-Yves PY; Payet, Frédérique F; Jacquemont, Marie-Line ML; Francannet, Christine C; Sigaudy, Sabine S; Bergot, Marine M; Tisserant, Emilie E; Ascencio, Marie-Laure ML; Binquet, Christine C; Duffourd, Yannis Y; Philippe, Christophe C; Faivre, Laurence L; Thauvin-Robinet, Christel C
Publication Date: 2023

Variant appearance in text: TSEN54: Ala307Ser
PubMed Link: 37035737
Variant Present in the following documents:
  • Main text
  • fgene-14-1099995.pdf
View BVdb publication page



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
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications
Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM
Publication Date: 2022-08

Variant appearance in text: TSEN54: A307S; rs113994152
PubMed Link: 35507738
Variant Present in the following documents:
  • HEP4-6-2132-s005.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: TSEN54: A307S; rs113994152
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Genes
Dawidziuk, Mateusz M; Gambin, Tomasz T; Bukowska-Olech, Ewelina E; Antczak-Marach, Dorota D; Badura-Stronka, Magdalena M; Buda, Piotr P; Budzynska, Edyta E; Castaneda, Jennifer J; Chilarska, Tatiana T; Czyzyk, Elzbieta E; Eckersdorf-Mastalerz, Anna A; Fijak-Moskal, Jolanta J; Gieruszczak-Bialek, Dorota D; Glodek-Brzozowska, Ewelina E; Goszczanska-Ciuchta, Alicja A; Grzeszykowska-Podymniak, Malgorzata M; Gurda, Barbara B; Jakubiuk-Tomaszuk, Anna A; Jamroz, Ewa E; Janeczko, Magdalena M; Jedlińska-Pijanowska, Dominika D; Jurek, Marta M; Karolewska, Dagmara D; Kazmierczak, Adela A; Kleist, Teresa T; Kochanowska, Iwona I; Krajewska-Walasek, Malgorzata M; Kufel, Katarzyna K; Kutkowska-Kaźmierczak, Anna A; Lipiec, Agata A; Maksym-Gasiorek, Dorota D; Materna-Kiryluk, Anna A; Mazurkiewicz, Hanna H; Milewski, Michał M; Pavina-Guglas, Tatsiana T; Pietrzyk, Aleksandra A; Posmyk, Renata R; Pyrkosz, Antoni A; Rudzka-Dybala, Mariola M; Slezak, Ryszard R; Wisniewska, Marzena M; Zalewska-Miszkurka, Zofia Z; Szczepanik, Elzbieta E; Obersztyn, Ewa E; Bekiesinska-Figatowska, Monika M; Gawlinski, Pawel P; Wiszniewski, Wojciech W
Publication Date: 2021-12-18

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 34946966
Variant Present in the following documents:
  • Main text
  • genes-12-02014.pdf
View BVdb publication page



Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Genes
Dawidziuk, Mateusz M; Gambin, Tomasz T; Bukowska-Olech, Ewelina E; Antczak-Marach, Dorota D; Badura-Stronka, Magdalena M; Buda, Piotr P; Budzynska, Edyta E; Castaneda, Jennifer J; Chilarska, Tatiana T; Czyzyk, Elzbieta E; Eckersdorf-Mastalerz, Anna A; Fijak-Moskal, Jolanta J; Gieruszczak-Bialek, Dorota D; Glodek-Brzozowska, Ewelina E; Goszczanska-Ciuchta, Alicja A; Grzeszykowska-Podymniak, Malgorzata M; Gurda, Barbara B; Jakubiuk-Tomaszuk, Anna A; Jamroz, Ewa E; Janeczko, Magdalena M; Jedlińska-Pijanowska, Dominika D; Jurek, Marta M; Karolewska, Dagmara D; Kazmierczak, Adela A; Kleist, Teresa T; Kochanowska, Iwona I; Krajewska-Walasek, Malgorzata M; Kufel, Katarzyna K; Kutkowska-Kaźmierczak, Anna A; Lipiec, Agata A; Maksym-Gasiorek, Dorota D; Materna-Kiryluk, Anna A; Mazurkiewicz, Hanna H; Milewski, Michał M; Pavina-Guglas, Tatsiana T; Pietrzyk, Aleksandra A; Posmyk, Renata R; Pyrkosz, Antoni A; Rudzka-Dybala, Mariola M; Slezak, Ryszard R; Wisniewska, Marzena M; Zalewska-Miszkurka, Zofia Z; Szczepanik, Elzbieta E; Obersztyn, Ewa E; Bekiesinska-Figatowska, Monika M; Gawlinski, Pawel P; Wiszniewski, Wojciech W
Publication Date: 2021-12-18

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 34946966
Variant Present in the following documents:
  • Main text
  • genes-12-02014.pdf
View BVdb publication page



Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg
Klau, Julia J; Abou Jamra, Rami R; Radtke, Maximilian M; Oppermann, Henry H; Lemke, Johannes R JR; Beblo, Skadi S; Popp, Bernt B
Publication Date: 2022-01

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 34690354
Variant Present in the following documents:
  • 41431_2021_981_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Monaghan, Caitlin E CE; Adamson, Scott I SI; Kapur, Mridu M; Chuang, Jeffrey H JH; Ackerman, Susan L SL
Publication Date: 2021-09-28

Variant appearance in text: TSEN54: A307S
PubMed Link: 34548404
Variant Present in the following documents:
  • Main text
  • pnas.202110730.pdf
View BVdb publication page



A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Molecular Genetics & Genomic Medicine
Sepahvand, Afrooz A; Razmara, Ehsan E; Bitarafan, Fatemeh F; Galehdari, Mohammad M; Tavasoli, Ali Reza AR; Almadani, Navid N; Garshasbi, Masoud M
Publication Date: 2020-10

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 32697043
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1413.pdf
View BVdb publication page



PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One
Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2020

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 32315351
Variant Present in the following documents:
  • pone.0231728.s001.pdf
View BVdb publication page



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
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



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
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: TSEN54: A307S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 30792901
Variant Present in the following documents:
  • Main text
  • 41525_2018_Article_76.pdf
View BVdb publication page



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
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Orphanet Journal Of Rare Diseases
van Dijk, Tessa T; Baas, Frank F; Barth, Peter G PG; Poll-The, Bwee Tien BT
Publication Date: 2018-06-15

Variant appearance in text: TSEN54: A307S
PubMed Link: 29903031
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_826.pdf
View BVdb publication page



TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.

Frontiers In Pediatrics
Pacheva, Iliyana Hristova IH; Todorov, Tihomir T; Ivanov, Ivan I; Tartova, Desislava D; Gaberova, Katerina K; Todorova, Albena A; Dimitrova, Diana D
Publication Date: 2018

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 29410950
Variant Present in the following documents:
  • Main text
  • fped-06-00001.pdf
View BVdb publication page



Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg
Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C
Publication Date: 2017-12

Variant appearance in text: TSEN54: 919G>T; Ala307Ser; rs113994152
PubMed Link: 29158550
Variant Present in the following documents:
  • 41431_2017_22_MOESM6_ESM.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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
PubMed Link: 28567303
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 28555434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Alternative Variants and Insertion of the Novel Polymorphic AluYl17 in TSEN54 Gene during Primate Evolution.

International Journal Of Genomics
Lee, Ja-Rang JR; Kim, Young-Hyun YH; Park, Sang-Je SJ; Choe, Se-Hee SH; Cho, Hyeon-Mu HM; Lee, Sang-Rae SR; Kim, Sun-Uk SU; Kim, Ji-Su JS; Sim, Bo-Woong BW; Song, Bong-Seok BS; Jeong, Kang-Jin KJ; Lee, Youngjeon Y; Jin, Yeung Bae YB; Kang, Philyong P; Huh, Jae-Won JW; Chang, Kyu-Tae KT
Publication Date: 2016

Variant appearance in text: TSEN54: A307S
PubMed Link: 28083540
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?

Annals Of Indian Academy Of Neurology
Samanta, Debopam D; Willis, Erin E
Publication Date: 2016

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 27570394
Variant Present in the following documents:
  • Main text
  • AIAN-19-385.pdf
View BVdb publication page



Brain morphometry in Pontocerebellar Hypoplasia type 2.

Orphanet Journal Of Rare Diseases
Ekert, Kaspar K; Groeschel, Samuel S; Sánchez-Albisua, Iciar I; Frölich, Saskia S; Dieckmann, Andrea A; Engel, Corinna C; Krägeloh-Mann, Ingeborg I
Publication Date: 2016-07-19

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 27430971
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2016-06

Variant appearance in text: TSEN54: A307S
PubMed Link: 27104957
Variant Present in the following documents:
  • Main text
  • gtmb.2016.0014.pdf
View BVdb publication page



TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.

The Turkish Journal Of Pediatrics
Maraş-Genç, Hülya H; Uyur-Yalçın, Emek E; Rosti, Rasim Özgür RÖ; Gleeson, Joseph G JG; Kara, Bülent B
Publication Date: 2015

Variant appearance in text: TSEN54: A307S
PubMed Link: 26701950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs113994152
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 26384369
Variant Present in the following documents:
  • supp_g3.115.021345_TableS1.xlsx, sheet 1
View BVdb publication page



A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Journal Of Human Genetics
Li, Zejuan Z; Schonberg, Rhonda R; Guidugli, Lucia L; Johnson, Amy Knight AK; Arnovitz, Stephen S; Yang, Sandra S; Scafidi, Joseph J; Summar, Marshall L ML; Vezina, Gilbert G; Das, Soma S; Chapman, Kimberly K; del Gaudio, Daniela D
Publication Date: 2015-07

Variant appearance in text: TSEN54: 919G>T; Ala307Ser
PubMed Link: 25809939
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
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Transfer RNA and human disease.

Frontiers In Genetics
Abbott, Jamie A JA; Francklyn, Christopher S CS; Robey-Bond, Susan M SM
Publication Date: 2014

Variant appearance in text: TSEN54: A307S
PubMed Link: 24917879
Variant Present in the following documents:
  • Main text
  • fgene-05-00158.pdf
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Natural course of pontocerebellar hypoplasia type 2A.

Orphanet Journal Of Rare Diseases
Sánchez-Albisua, Iciar I; Frölich, Saskia S; Barth, Peter G PG; Steinlin, Maja M; Krägeloh-Mann, Ingeborg I
Publication Date: 2014-05-05

Variant appearance in text: TSEN54: A307S
PubMed Link: 24886362
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2014-02-13

Variant appearance in text: TSEN54: A307S
PubMed Link: 24524299
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-23.pdf
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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.

Orphanet Journal Of Rare Diseases
Burglen, Lydie L; Chantot-Bastaraud, Sandra S; Garel, Catherine C; Milh, Mathieu M; Touraine, Renaud R; Zanni, Ginevra G; Petit, Florence F; Afenjar, Alexandra A; Goizet, Cyril C; Barresi, Sabina S; Coussement, Aurélie A; Ioos, Christine C; Lazaro, Leila L; Joriot, Sylvie S; Desguerre, Isabelle I; Lacombe, Didier D; des Portes, Vincent V; Bertini, Enrico E; Siffroi, Jean-Pierre JP; de Villemeur, Thierry Billette TB; Rodriguez, Diana D
Publication Date: 2012-03-27

Variant appearance in text: TSEN54: A307S
PubMed Link: 22452838
Variant Present in the following documents:
  • Main text
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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Orphanet Journal Of Rare Diseases
Namavar, Yasmin Y; Barth, Peter G PG; Poll-The, Bwee Tien BT; Baas, Frank F
Publication Date: 2011-07-12

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 21749694
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-50.pdf
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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
Publication Date: 2011-06

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 21368912
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2010-09

Variant appearance in text: TSEN54: 919G>T; A307S
PubMed Link: 20803644
Variant Present in the following documents:
  • Main text
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