Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: UBA5: A371T

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: UBA5: 1111G>A; Ala371Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: UBA5: A371T; rs114925667

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Structural basis for UFM1 transfer from UBA5 to UFC1.

Nature Communications

Kumar, Manoj M; Padala, Prasanth P; Fahoum, Jamal J; Hassouna, Fouad F; Tsaban, Tomer T; Zoltsman, Guy G; Banerjee, Sayanika S; Cohen-Kfir, Einav E; Dessau, Moshe M; Rosenzweig, Rina R; Isupov, Michail N MN; Schueler-Furman, Ora O; Wiener, Reuven R

Publication Date: 2021-09-29

Variant appearance in text: UBA5: A371T

PubMed Link: 34588452

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25994.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: UBA5: A371T

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.

International Journal Of Molecular Sciences

Wesch, Nicole N; Löhr, Frank F; Rogova, Natalia N; Dötsch, Volker V; Rogov, Vladimir V VV

Publication Date: 2021-07-09

Variant appearance in text: UBA5: A371T

PubMed Link: 34299007

Variant Present in the following documents:

• Main text
• ijms-22-07390.pdf

View BVdb publication page

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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Cold Spring Harbor Molecular Case Studies

Briere, Lauren C LC; Walker, Melissa A MA; High, Frances A FA; Cooper, Cynthia C; Rogers, Cassandra A CA; Callahan, Christine J CJ; Ishimura, Ryosuke R; Ichimura, Yoshinobu Y; Caruso, Paul A PA; Sharma, Nutan N; Brokamp, Elly E; Koziura, Mary E ME; Mohammad, Shekeeb S SS; Dale, Russell C RC; Riley, Lisa G LG; , ; Phillips, John A JA; Komatsu, Masaaki M; Sweetser, David A DA

Publication Date: 2021-06

Variant appearance in text: UBA5: 1111G>A; A371T; rs114925667

PubMed Link: 33811063

Variant Present in the following documents:

• Main text
• supp_mcs.a005827_Supplemental_Table_S2.xlsx, sheet 1
• MCS005827Bri.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: UBA5: 1111G>A; Ala371Thr

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2020-09-18

Variant appearance in text: UBA5: A371T; rs114925667

PubMed Link: 32948195

Variant Present in the following documents:

• 12920_2020_763_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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: UBA5: 1111G>A; Ala371Thr

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: UBA5: 1111G>A; Ala371Thr; rs114925667

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: UBA5: 1111G>A; Ala371Thr

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Brain : A Journal Of Neurology

Nahorski, Michael S MS; Maddirevula, Sateesh S; Ishimura, Ryosuke R; Alsahli, Saud S; Brady, Angela F AF; Begemann, Anaïs A; Mizushima, Tsunehiro T; Guzmán-Vega, Francisco J FJ; Obata, Miki M; Ichimura, Yoshinobu Y; Alsaif, Hessa S HS; Anazi, Shams S; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Monies, Dorota D; Abouelhoda, Mohamed M; Meyer, Brian F BF; Alfadhel, Majid M; Eyaid, Wafa W; Zweier, Markus M; Steindl, Katharina K; Rauch, Anita A; Arold, Stefan T ST; Woods, C Geoffrey CG; Komatsu, Masaaki M; Alkuraya, Fowzan S FS

Publication Date: 2018-07-01

Variant appearance in text: UBA5: 1111G>A

PubMed Link: 29868776

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: UBA5: 1111G>A; Ala371Thr; rs114925667

PubMed Link: 29158550

Variant Present in the following documents:

• 41431_2017_22_MOESM6_ESM.xlsx, sheet 6

View BVdb publication page

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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Bmc Medical Genetics

Arnadottir, Gudny A GA; Jensson, Brynjar O BO; Marelsson, Sigurdur E SE; Sulem, Gerald G; Oddsson, Asmundur A; Kristjansson, Ragnar P RP; Benonisdottir, Stefania S; Gudjonsson, Sigurjon A SA; Masson, Gisli G; Thorisson, Gudmundur A GA; Saemundsdottir, Jona J; Magnusson, Olafur Th OT; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Arngrimsson, Reynir R; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2017-10-02

Variant appearance in text: UBA5: Ala371Thr

PubMed Link: 28965491

Variant Present in the following documents:

• Main text
• 12881_2017_Article_466.pdf

View BVdb publication page

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

American Journal Of Human Genetics

Colin, Estelle E; Daniel, Jens J; Ziegler, Alban A; Wakim, Jamal J; Scrivo, Aurora A; Haack, Tobias B TB; Khiati, Salim S; Denommé, Anne-Sophie AS; Amati-Bonneau, Patrizia P; Charif, Majida M; Procaccio, Vincent V; Reynier, Pascal P; Aleck, Kyrieckos A KA; Botto, Lorenzo D LD; Herper, Claudia Lena CL; Kaiser, Charlotte Sophia CS; Nabbout, Rima R; N'Guyen, Sylvie S; Mora-Lorca, José Antonio JA; Assmann, Birgit B; Christ, Stine S; Meitinger, Thomas T; Strom, Tim M TM; Prokisch, Holger H; , ; Miranda-Vizuete, Antonio A; Hoffmann, Georg F GF; Lenaers, Guy G; Bomont, Pascale P; Liebau, Eva E; Bonneau, Dominique D

Publication Date: 2016-09-01

Variant appearance in text: UBA5: 1111G>A; Ala371Thr

PubMed Link: 27545681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

American Journal Of Human Genetics

Muona, Mikko M; Ishimura, Ryosuke R; Laari, Anni A; Ichimura, Yoshinobu Y; Linnankivi, Tarja T; Keski-Filppula, Riikka R; Herva, Riitta R; Rantala, Heikki H; Paetau, Anders A; Pöyhönen, Minna M; Obata, Miki M; Uemura, Takefumi T; Karhu, Thomas T; Bizen, Norihisa N; Takebayashi, Hirohide H; McKee, Shane S; Parker, Michael J MJ; Akawi, Nadia N; McRae, Jeremy J; Hurles, Matthew E ME; , ; Kuismin, Outi O; Kurki, Mitja I MI; Anttonen, Anna-Kaisa AK; Tanaka, Keiji K; Palotie, Aarno A; Waguri, Satoshi S; Lehesjoki, Anna-Elina AE; Komatsu, Masaaki M

Publication Date: 2016-09-01

Variant appearance in text: UBA5: 1111G>A; Ala371Thr

PubMed Link: 27545674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: UBA5: A371T

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Scientific Reports

Duan, Jubao J; Shi, Jianxin J; Ge, Xijin X; Dölken, Lars L; Moy, Winton W; He, Deli D; Shi, Sandra S; Sanders, Alan R AR; Ross, Jeff J; Gejman, Pablo V PV

Publication Date: 2013

Variant appearance in text: UBA5: A371T; rs114925667

PubMed Link: 23422947

Variant Present in the following documents:

• srep01318-s2.xls, sheet 7

View BVdb publication page

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