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: FAS: T214t

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: FAS: 642T>C; Thr214=; rs2234978

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs2234978

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2234978

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.

Blood Advances

Martin, Paul J PJ; Levine, David M DM; Storer, Barry E BE; Sather, Cassandra L CL; Spellman, Stephen R SR; Hansen, John A JA

Publication Date: 2022-04-26

Variant appearance in text: rs2234978

PubMed Link: 34996099

Variant Present in the following documents:

• advancesADV2021005620-suppl1.pdf

View BVdb publication page

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An Update in Our Understanding of the Relationships Between Gene Polymorphisms and Chemotherapy-Induced Nausea and Vomiting.

International Journal Of General Medicine

Jin, Yilan Y; Li, Xiaorong X; Jiang, Caihong C; Zhao, Jun J; Liu, Guang G; Li, Hui H; Jin, Gaowa G; Li, Quanfu Q

Publication Date: 2021

Variant appearance in text: rs2234978

PubMed Link: 34566427

Variant Present in the following documents:

• Main text
• ijgm-14-5879.pdf

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: FAS: T214T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: FAS: T214T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: FAS: Thr214Thr; rs2234978

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One

Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F

Publication Date: 2021

Variant appearance in text: rs2234978

PubMed Link: 33507988

Variant Present in the following documents:

• Main text
• pone.0243084.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics

Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2020-11

Variant appearance in text: FAS: 642T>C; rs2234978

PubMed Link: 32951330

Variant Present in the following documents:

• CNS-26-1178-s002.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: N/A

PubMed Link: 32046637

Variant Present in the following documents:

View BVdb publication page

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Correlation between FAS single nucleotide polymorphisms and breast carcinoma susceptibility in Asia.

Medicine

Chen, Ying Y; Wang, Hanfei H; Yan, Yunwen Y; Ren, Min M; Yan, Cunye C; Wang, Benzhong B

Publication Date: 2019-12

Variant appearance in text: rs2234978

PubMed Link: 31804351

Variant Present in the following documents:

• Main text
• medi-98-e18240.pdf

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: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms.

Brain Pathology (Zurich, Switzerland)

Fransen, Nina L NL; Crusius, Jakob B A JBA; Smolders, Joost J; Mizee, Mark R MR; van Eden, Corbert G CG; Luchetti, Sabina S; Remmerswaal, Ester B M EBM; Hamann, Jörg J; Mason, Matthew R J MRJ; Huitinga, Inge I

Publication Date: 2020-01

Variant appearance in text: rs2234978

PubMed Link: 31228212

Variant Present in the following documents:

• Main text
• BPA-30-106.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2234978

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: FAS: 642T>C; Thr214Thr

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2234978

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2234978

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons.

Science Advances

Osaki, Tatsuya T; Uzel, Sebastien G M SGM; Kamm, Roger D RD

Publication Date: 2018-10

Variant appearance in text: rs2234978

PubMed Link: 30324134

Variant Present in the following documents:

• aat5847_SM.pdf

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: FAS: 642T>C; rs2234978

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.

Oncotarget

Benna, Clara C; Simioni, Andrea A; Pasquali, Sandro S; De Boni, Davide D; Rajendran, Senthilkumar S; Spiro, Giovanna G; Colombo, Chiara C; Virgone, Calogero C; DuBois, Steven G SG; Gronchi, Alessandro A; Rossi, Carlo Riccardo CR; Mocellin, Simone S

Publication Date: 2018-04-06

Variant appearance in text: rs2234978

PubMed Link: 29719630

Variant Present in the following documents:

View BVdb publication page

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Single nucleotide polymorphisms might influence chemotherapy induced nausea in women with breast cancer.

Clinical And Translational Radiation Oncology

Oliva, Delmy D; Nilsson, Mats M; Andersson, Bengt-Åke BÅ; Sharp, Lena L; Lewin, Freddi F; Laytragoon-Lewin, Nongnit N

Publication Date: 2017-02

Variant appearance in text: rs2234978

PubMed Link: 29657992

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphism related to monocyte-macrophage function is associated with graft-versus-host disease.

Scientific Reports

Hyvärinen, Kati K; Ritari, Jarmo J; Koskela, Satu S; Niittyvuopio, Riitta R; Nihtinen, Anne A; Volin, Liisa L; Gallardo, David D; Partanen, Jukka J

Publication Date: 2017-11-15

Variant appearance in text: rs2234978

PubMed Link: 29142307

Variant Present in the following documents:

• 41598_2017_15915_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2234978

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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MiRNAs and miRNA Polymorphisms Modify Drug Response.

International Journal Of Environmental Research And Public Health

Li, Mu-Peng MP; Hu, Yao-Dong YD; Hu, Xiao-Lei XL; Zhang, Yan-Jiao YJ; Yang, Yong-Long YL; Jiang, Chun C; Tang, Jie J; Chen, Xiao-Ping XP

Publication Date: 2016-11-08

Variant appearance in text: rs2234978

PubMed Link: 27834829

Variant Present in the following documents:

• Main text
• ijerph-13-01096.pdf

View BVdb publication page

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Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.

Alimentary Pharmacology & Therapeutics

Bek, S S; Nielsen, J V JV; Bojesen, A B AB; Franke, A A; Bank, S S; Vogel, U U; Andersen, V V

Publication Date: 2016-09

Variant appearance in text: rs2234978

PubMed Link: 27417569

Variant Present in the following documents:

• Main text
• APT-44-554.pdf

View BVdb publication page

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Single nucleotide polymorphisms in apoptosis pathway are associated with response to imatinib therapy in chronic myeloid leukemia.

Journal Of Translational Medicine

Zheng, Qiaoli Q; Cao, Jiang J; Hamad, Nada N; Kim, Hyeoung-Joon HJ; Moon, Joon Ho JH; Sohn, Sang Kyun SK; Jung, Chul Won CW; Lipton, Jeffrey H JH; Kim, Dennis Dong Hwan DD

Publication Date: 2016-03-24

Variant appearance in text: rs2234978

PubMed Link: 27009330

Variant Present in the following documents:

• Main text
• 12967_2016_Article_837.pdf

View BVdb publication page

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: FAS: 642T>C; rs2234978

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 2

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 26092435

Variant Present in the following documents:

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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: FAS: T214T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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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: FAS: T214T; rs2234978

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Zhao, Yang Y; Wei, Qingyi Q; Hu, Lingming L; Chen, Feng F; Hu, Zhibin Z; Heist, Rebecca S RS; Su, Li L; Amos, Christopher I CI; Shen, Hongbing H; Christiani, David C DC

Publication Date: 2014-11

Variant appearance in text: rs2234978

PubMed Link: 25103824

Variant Present in the following documents:

• Main text

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs2234978

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: FAS: T214T; rs2234978

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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MicroRNA-related genetic variants associated with clinical outcomes in early-stage non-small cell lung cancer patients.

Cancer Research

Pu, Xia X; Roth, Jack A JA; Hildebrandt, Michelle A T MA; Ye, Yuanqing Y; Wei, Hua H; Minna, John D JD; Lippman, Scott M SM; Wu, Xifeng X

Publication Date: 2013-03-15

Variant appearance in text: rs2234978

PubMed Link: 23378343

Variant Present in the following documents:

• Main text

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In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.

Haematologica

Hansford, Jordan R JR; Pal, Manika M; Poplawski, Nicola N; Haan, Eric E; Boog, Bernadette B; Ferrante, Antonio A; Davis, Joie J; Niemela, Julie E JE; Rao, V Koneti VK; Suppiah, Ram R

Publication Date: 2013-04

Variant appearance in text: rs2234978

PubMed Link: 22983578

Variant Present in the following documents:

• Main text

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Genetic variation in cell death genes and risk of non-Hodgkin lymphoma.

Plos One

Schuetz, Johanna M JM; Daley, Denise D; Graham, Jinko J; Berry, Brian R BR; Gallagher, Richard P RP; Connors, Joseph M JM; Gascoyne, Randy D RD; Spinelli, John J JJ; Brooks-Wilson, Angela R AR

Publication Date: 2012

Variant appearance in text: rs2234978

PubMed Link: 22347493

Variant Present in the following documents:

• Main text

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Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.

Plos One

Christie, Jason D JD; Wurfel, Mark M MM; Feng, Rui R; O'Keefe, Grant E GE; Bradfield, Jonathan J; Ware, Lorraine B LB; Christiani, David C DC; Calfee, Carolyn S CS; Cohen, Mitchell J MJ; Matthay, Michael M; Meyer, Nuala J NJ; Kim, Cecilia C; Li, Mingyao M; Akey, Joshua J; Barnes, Kathleen C KC; Sevransky, Jonathan J; Lanken, Paul N PN; May, Addison K AK; Aplenc, Richard R; Maloney, James P JP; Hakonarson, Hakon H; ,

Publication Date: 2012

Variant appearance in text: rs2234978

PubMed Link: 22295056

Variant Present in the following documents:

• Main text

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Identifying host genetic risk factors in the context of public health surveillance for invasive pneumococcal disease.

Plos One

Lingappa, Jairam R JR; Dumitrescu, Logan L; Zimmer, Shanta M SM; Lynfield, Ruth R; McNicholl, Janet M JM; Messonnier, Nancy E NE; Whitney, Cynthia G CG; Crawford, Dana C DC

Publication Date: 2011

Variant appearance in text: rs2234978

PubMed Link: 21858107

Variant Present in the following documents:

• Main text
• pone.0023413.pdf

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A -436C>A polymorphism in the human FAS gene promoter associated with severe childhood malaria.

Plos Genetics

Schuldt, Kathrin K; Kretz, Cosima C CC; Timmann, Christian C; Sievertsen, Jürgen J; Ehmen, Christa C; Esser, Claudia C; Loag, Wibke W; Ansong, Daniel D; Dering, Carmen C; Evans, Jennifer J; Ziegler, Andreas A; May, Jürgen J; Krammer, Peter H PH; Agbenyega, Tsiri T; Horstmann, Rolf D RD

Publication Date: 2011-05

Variant appearance in text: rs2234978

PubMed Link: 21625619

Variant Present in the following documents:

• Main text

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Genetic correlations of brain lesion distribution in multiple sclerosis: an exploratory study.

Ajnr. American Journal Of Neuroradiology

Sombekke, M H MH; Vellinga, M M MM; Uitdehaag, B M J BM; Barkhof, F F; Polman, C H CH; Arteta, D D; Tejedor, D D; Martinez, A A; Crusius, J B A JB; Peña, A S AS; Geurts, J J G JJ; Vrenken, H H

Publication Date: 2011-04

Variant appearance in text: rs2234978

PubMed Link: 21436341

Variant Present in the following documents:

• Main text

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Genetic variation in the FAS gene and associations with acute lung injury.

American Journal Of Respiratory And Critical Care Medicine

Glavan, Bradford J BJ; Holden, Tarah D TD; Goss, Christopher H CH; Black, R Anthony RA; Neff, Margaret J MJ; Nathens, Avery B AB; Martin, Thomas R TR; Wurfel, Mark M MM; ,

Publication Date: 2011-02-01

Variant appearance in text: rs2234978

PubMed Link: 20813889

Variant Present in the following documents:

• Main text

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs2234978

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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