Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PIBF1: R405Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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: PIBF1: 1214G>A; Arg405Gln

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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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: PIBF1: 1214G>A; R405Q; rs17089782

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

Genes

De Ita, Marlon M; Gaytán-Cervantes, Javier J; Cisneros, Bulmaro B; Araujo, María Antonieta MA; Huicochea-Montiel, Juan Carlos JC; Cárdenas-Conejo, Alan A; Lazo-Cárdenas, Charles César CC; Ramírez-Portillo, César Iván CI; Feria-Kaiser, Carina C; Peregrino-Bejarano, Leoncio L; Yáñez-Gutiérrez, Lucelli L; González-Torres, Carolina C; Rosas-Vargas, Haydeé H

Publication Date: 2022-09-16

Variant appearance in text: PIBF1: 1214G>A; R405Q; rs17089782

PubMed Link: 36140829

Variant Present in the following documents:

• Main text
• genes-13-01662.pdf

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: PIBF1: R405Q; rs17089782

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical and Imaging Profile of Patients with Joubert Syndrome.

Journal Of Movement Disorders

Surisetti, Bharath Kumar BK; Holla, Vikram Venkappayya VV; Prasad, Shweta S; Neeraja, Koti K; Kamble, Nitish N; Yadav, Ravi R; Pal, Pramod Kumar PK

Publication Date: 2021-09

Variant appearance in text: PIBF1: R405Q

PubMed Link: 34592808

Variant Present in the following documents:

• jmd-21066.pdf
• jmd-21066-suppl2.pdf

View BVdb publication page

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A ciliopathy complex builds distal appendages to initiate ciliogenesis.

The Journal Of Cell Biology

Kumar, Dhivya D; Rains, Addison A; Herranz-Pérez, Vicente V; Lu, Quanlong Q; Shi, Xiaoyu X; Swaney, Danielle L DL; Stevenson, Erica E; Krogan, Nevan J NJ; Huang, Bo B; Westlake, Christopher C; Garcia-Verdugo, Jose Manuel JM; Yoder, Bradley K BK; Reiter, Jeremy F JF

Publication Date: 2021-09-06

Variant appearance in text: CEP90: R405Q

PubMed Link: 34241634

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data.

Scientific Reports

Tran, Ngoc Hieu NH; Vo, Thanh Binh TB; Nguyen, Van Thong VT; Tran, Nhat-Thang NT; Trinh, Thu-Huong Nhat TN; Pham, Hong-Anh Thi HT; Dao, Thi Hong Thuy THT; Nguyen, Ngoc Mai NM; Van, Yen-Linh Thi YT; Tran, Vu Uyen VU; Vu, Hoang Giang HG; Bui, Quynh-Tram Nguyen QN; Vo, Phuong-Anh Ngoc PN; Nguyen, Huu Nguyen HN; Nguyen, Quynh-Tho Thi QT; Do, Thanh-Thuy Thi TT; Lam, Nien Vinh NV; Ngoc, Phuong Cao Thi PCT; Truong, Dinh Kiet DK; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Phan, Minh-Duy MD

Publication Date: 2020-11-05

Variant appearance in text: rs17089782

PubMed Link: 33154511

Variant Present in the following documents:

• Main text
• 41598_2020_Article_76245.pdf

View BVdb publication page

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Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.

Bmc Medical Genetics

Shen, Yue Y; Wang, Hao H; Liu, Zhimin Z; Luo, Minna M; Ma, Siyu S; Lu, Chao C; Cao, Zongfu Z; Yu, Yufei Y; Cai, Ruikun R; Chen, Cuixia C; Li, Qian Q; Gao, Huafang H; Peng, Yun Y; Xu, Baoping B; Ma, Xu X

Publication Date: 2020-10-01

Variant appearance in text: PIBF1: Arg405Gln

PubMed Link: 33004012

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1130.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PIBF1: 1214G>A; Arg405Gln; rs17089782

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: PIBF1: 1214G>A; Arg405Gln

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

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: PIBF1: 1214G>A; Arg405Gln; rs17089782

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Human Mutation

Ghosh, Rajarshi R; Harrison, Steven M SM; Rehm, Heidi L HL; Plon, Sharon E SE; Biesecker, Leslie G LG; ,

Publication Date: 2018-11

Variant appearance in text: PIBF1: 1214G>A; Arg405Gln

PubMed Link: 30311383

Variant Present in the following documents:

• Main text

View BVdb publication page

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A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

Journal Of Human Genetics

Hebbar, Malavika M; Kanthi, Anil A; Shukla, Anju A; Bielas, Stephanie S; Girisha, Katta M KM

Publication Date: 2018-07

Variant appearance in text: PIBF1: 1214G>A

PubMed Link: 29695797

Variant Present in the following documents:

• Main text
• nihms958880.pdf

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: rs17089782

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: PIBF1: R405Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: PIBF1: R405Q

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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