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: FYCO1: N1001D

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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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Plos Genetics

Butler-Laporte, Guillaume G; Povysil, Gundula G; Kosmicki, Jack A JA; Cirulli, Elizabeth T ET; Drivas, Theodore T; Furini, Simone S; Saad, Chadi C; Schmidt, Axel A; Olszewski, Pawel P; Korotko, Urszula U; Quinodoz, Mathieu M; Çelik, Elifnaz E; Kundu, Kousik K; Walter, Klaudia K; Jung, Junghyun J; Stockwell, Amy D AD; Sloofman, Laura G LG; Jordan, Daniel M DM; Thompson, Ryan C RC; Del Valle, Diane D; Simons, Nicole N; Cheng, Esther E; Sebra, Robert R; Schadt, Eric E EE; Kim-Schulze, Seunghee S; Gnjatic, Sacha S; Merad, Miriam M; Buxbaum, Joseph D JD; Beckmann, Noam D ND; Charney, Alexander W AW; Przychodzen, Bartlomiej B; Chang, Timothy T; Pottinger, Tess D TD; Shang, Ning N; Brand, Fabian F; Fava, Francesca F; Mari, Francesca F; Chwialkowska, Karolina K; Niemira, Magdalena M; Pula, Szymon S; Baillie, J Kenneth JK; Stuckey, Alex A; Salas, Antonio A; Bello, Xabier X; Pardo-Seco, Jacobo J; Gómez-Carballa, Alberto A; Rivero-Calle, Irene I; Martinón-Torres, Federico F; Ganna, Andrea A; Karczewski, Konrad J KJ; Veerapen, Kumar K; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert Jm RJ; Forgetta, Vincenzo V; Morrison, David D; Langlais, David D; Lathrop, Mark M; Mooser, Vincent V; Nakanishi, Tomoko T; Frithiof, Robert R; Hultström, Michael M; Lipcsey, Miklos M; Marincevic-Zuniga, Yanara Y; Nordlund, Jessica J; Schiabor Barrett, Kelly M KM; Lee, William W; Bolze, Alexandre A; White, Simon S; Riffle, Stephen S; Tanudjaja, Francisco F; Sandoval, Efren E; Neveux, Iva I; Dabe, Shaun S; Casadei, Nicolas N; Motameny, Susanne S; Alaamery, Manal M; Massadeh, Salam S; Aljawini, Nora N; Almutairi, Mansour S MS; Arabi, Yaseen M YM; Alqahtani, Saleh A SA; Al Harthi, Fawz S FS; Almutairi, Amal A; Alqubaishi, Fatima F; Alotaibi, Sarah S; Binowayn, Albandari A; Alsolm, Ebtehal A EA; El Bardisy, Hadeel H; Fawzy, Mohammad M; Cai, Fang F; Soranzo, Nicole N; Butterworth, Adam A; , ; , ; , ; , ; , ; , ; , ; , ; Geschwind, Daniel H DH; Arteaga, Stephanie S; Stephens, Alexis A; Butte, Manish J MJ; Boutros, Paul C PC; Yamaguchi, Takafumi N TN; Tao, Shu S; Eng, Stefan S; Sanders, Timothy T; Tung, Paul J PJ; Broudy, Michael E ME; Pan, Yu Y; Gonzalez, Alfredo A; Chavan, Nikhil N; Johnson, Ruth R; Pasaniuc, Bogdan B; Yaspan, Brian B; Smieszek, Sandra S; Rivolta, Carlo C; Bibert, Stephanie S; Bochud, Pierre-Yves PY; Dabrowski, Maciej M; Zawadzki, Pawel P; Sypniewski, Mateusz M; Kaja, Elżbieta E; Chariyavilaskul, Pajaree P; Nilaratanakul, Voraphoj V; Hirankarn, Nattiya N; Shotelersuk, Vorasuk V; Pongpanich, Monnat M; Phokaew, Chureerat C; Chetruengchai, Wanna W; Tokunaga, Katsushi K; Sugiyama, Masaya M; Kawai, Yosuke Y; Hasegawa, Takanori T; Naito, Tatsuhiko T; Namkoong, Ho H; Edahiro, Ryuya R; Kimura, Akinori A; Ogawa, Seishi S; Kanai, Takanori T; Fukunaga, Koichi K; Okada, Yukinori Y; Imoto, Seiya S; Miyano, Satoru S; Mangul, Serghei S; Abedalthagafi, Malak S MS; Zeberg, Hugo H; Grzymski, Joseph J JJ; Washington, Nicole L NL; Ossowski, Stephan S; Ludwig, Kerstin U KU; Schulte, Eva C EC; Riess, Olaf O; Moniuszko, Marcin M; Kwasniewski, Miroslaw M; Mbarek, Hamdi H; Ismail, Said I SI; Verma, Anurag A; Goldstein, David B DB; Kiryluk, Krzysztof K; Renieri, Alessandra A; Ferreira, Manuel A R MAR; Richards, J Brent JB

Publication Date: 2022-11

Variant appearance in text: rs13059238

PubMed Link: 36327219

Variant Present in the following documents:

• Main text
• pgen.1010367.pdf

View BVdb publication page

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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

Publication Date: 2022-10-14

Variant appearance in text: FYCO1: N1001D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Plos One

Azzarà, Alessia A; Cassano, Ilaria I; Paccagnella, Elisa E; Tirindelli, Maria Cristina MC; Nobile, Carolina C; Schittone, Valentina V; Lintas, Carla C; Sacco, Roberto R; Gurrieri, Fiorella F

Publication Date: 2022

Variant appearance in text: rs13059238

PubMed Link: 36228008

Variant Present in the following documents:

• Main text
• pone.0275988.pdf

View BVdb publication page

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Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population.

Frontiers In Genetics

Zecevic, Marko M; Kotur, Nikola N; Ristivojevic, Bojan B; Gasic, Vladimir V; Skodric-Trifunovic, Vesna V; Stjepanovic, Mihailo M; Stevanovic, Goran G; Lavadinovic, Lidija L; Zukic, Branka B; Pavlovic, Sonja S; Stankovic, Biljana B

Publication Date: 2022

Variant appearance in text: rs13059238

PubMed Link: 35910207

Variant Present in the following documents:

• Main text
• fgene-13-911010.pdf

View BVdb publication page

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Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Molecular Genetics & Genomic Medicine

Saleem, Rani Saira RS; Siddiqui, Sorath Noorani SN; Irshad, Saba S; Ashraf, Naeem Mahmood NM; Hamid, Arslan A; Khan, Muhammad Azmat Ullah MAU; Khan, Muhammad Imran MI; Micheal, Shazia S

Publication Date: 2022-08

Variant appearance in text: FYCO1: Asn1001Asp; rs13059238

PubMed Link: 35638468

Variant Present in the following documents:

• Main text
• MGG3-10-e1985.pdf

View BVdb publication page

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The Genomic Profile Associated with Risk of Severe Forms of COVID-19 in Amazonian Native American Populations.

Journal Of Personalized Medicine

Pastana, Lucas Favacho LF; Silva, Thays Amâncio TA; Gellen, Laura Patrícia Albarello LPA; Vieira, Giovana Miranda GM; de Assunção, Letícia Almeida LA; Leitão, Luciana Pereira Colares LPC; da Silva, Natasha Monte NM; Coelho, Rita de Cássia Calderaro RCC; de Alcântara, Angélica Leite AL; Vinagre, Lui Wallacy Morikawa Souza LWMS; Rodrigues, Juliana Carla Gomes JCG; Borges Leal, Diana Feio da Veiga DFDV; Fernandes, Marianne Rodrigues MR; de Souza, Sandro José SJ; Kroll, José Eduardo JE; Ribeiro-Dos-Santos, André Mauricio AM; Burbano, Rommel Mario Rodríguez RMR; Guerreiro, João Farias JF; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Campos ÂC; Dos Santos, Sidney Emanuel Batista SEB; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2022-04-01

Variant appearance in text: rs13059238

PubMed Link: 35455670

Variant Present in the following documents:

• Main text
• jpm-12-00554.pdf

View BVdb publication page

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Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19.

Personalized Medicine

Ahmed, Zeeshan Z; Renart, Eduard Gibert EG; Zeeshan, Saman S

Publication Date: 2022-05

Variant appearance in text: FYCO1: N1001D

PubMed Link: 35261286

Variant Present in the following documents:

• Main text
• pme-2021-0132.pdf

View BVdb publication page

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Genetic variability in COVID-19-related genes in the Brazilian population.

Human Genome Variation

Secolin, Rodrigo R; de Araujo, Tânia K TK; Gonsales, Marina C MC; Rocha, Cristiane S CS; Naslavsky, Michel M; Marco, Luiz De L; Bicalho, Maria A C MAC; Vazquez, Vinicius L VL; Zatz, Mayana M; Silva, Wilson A WA; Lopes-Cendes, Iscia I

Publication Date: 2021

Variant appearance in text: FYCO1: 3001A>G; N1001D; rs13059238

PubMed Link: 33824725

Variant Present in the following documents:

• 41439_2021_146_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: FYCO1: 3001A>G; Asn1001Asp

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: FYCO1: N1001D

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: FYCO1: N1001D

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: FYCO1: 3001A>G; Asn1001Asp

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 6

View BVdb publication page

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Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Bmc Medical Genetics

Li, Shan S; Zhang, Jianfei J; Cao, Yixuan Y; You, Yi Y; Zhao, Xiuli X

Publication Date: 2019-12-16

Variant appearance in text: FYCO1: 3001A>G; N1001D; rs13059238

PubMed Link: 31842807

Variant Present in the following documents:

• 12881_2019_933_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: FYCO1: 3001A>G; Asn1001Asp; rs13059238

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: FYCO1: 3001A>G; Asn1001Asp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: FYCO1: N1001D

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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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: FYCO1: N1001D; rs13059238

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FYCO1: 3001A>G; Asn1001Asp; rs13059238

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: FYCO1: N1001D; rs13059238

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs13059238

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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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: rs13059238

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FYCO1: N1001D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: FYCO1: N1001D; rs13059238

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs13059238

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: FYCO1: N1001D

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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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: FYCO1: N1001D; rs13059238

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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