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: MMEL1: M518T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.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: MMEL1: M518T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.

Frontiers In Immunology

Mulinacci, Giacomo G; Palermo, Andrea A; Gerussi, Alessio A; Asselta, Rosanna R; Gershwin, Merrill Eric ME; Invernizzi, Pietro P

Publication Date: 2022

Variant appearance in text: rs3748816

PubMed Link: 36119102

Variant Present in the following documents:

• Main text
• fimmu-13-975115.pdf

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: MMEL1: M518T; rs3748816

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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How genetic risk contributes to autoimmune liver disease.

Seminars In Immunopathology

Ellinghaus, David D

Publication Date: 2022-07

Variant appearance in text: rs3748816

PubMed Link: 35650446

Variant Present in the following documents:

• Main text
• 281_2022_Article_950.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: MMEL1: M518T

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: MMEL1: M518T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

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: MMEL1: M518T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

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: MMEL1: 1553T>C; M518T; rs3748816

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Causal Estimation with Functional Confounders.

Advances In Neural Information Processing Systems

Puli, Aahlad A; Perotte, Adler J AJ; Ranganath, Rajesh R

Publication Date: 2020-12

Variant appearance in text: rs3748816

PubMed Link: 33953524

Variant Present in the following documents:

• Main text

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: MMEL1: Met518Thr; rs3748816

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Journal Of Human Genetics

Cerqueira, Juliana X M JXM; Saavalainen, Päivi P; Kurppa, Kalle K; Laurikka, Pilvi P; Huhtala, Heini H; Nykter, Matti M; L E Koskinen, Lotta L; Yohannes, Dawit A DA; Kilpeläinen, Elina E; Shcherban, Anastasia A; Palotie, Aarno A; Kaukinen, Katri K; Lindfors, Katri K

Publication Date: 2021-06

Variant appearance in text: rs3748816

PubMed Link: 33446885

Variant Present in the following documents:

• 10038_2020_888_MOESM3_ESM.xlsx, sheet 1
• 10038_2020_888_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide resolution peripheral blood methylome profiling reveals signatures for cholestatic liver disease.

Epigenomics

Moore, Raymond M RM; Sun, Zhifu Z; Juran, Brian D BD; Lazaridis, Konstantinos N KN

Publication Date: 2020-08

Variant appearance in text: rs3748816

PubMed Link: 32914644

Variant Present in the following documents:

• Main text
• epi-12-1363.pdf

View BVdb publication page

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Differences Between Familial and Sporadic Celiac Disease.

Digestive Diseases And Sciences

Airaksinen, Laura L; Myllymäki, Lauri L; Kaukinen, Katri K; Saavalainen, Päivi P; Huhtala, Heini H; Lindfors, Katri K; Kurppa, Kalle K

Publication Date: 2021-06

Variant appearance in text: rs3748816

PubMed Link: 32705440

Variant Present in the following documents:

• Main text
• 10620_2020_Article_6490.pdf

View BVdb publication page

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Differences Between Familial and Sporadic Celiac Disease.

Digestive Diseases And Sciences

Airaksinen, Laura L; Myllymäki, Lauri L; Kaukinen, Katri K; Saavalainen, Päivi P; Huhtala, Heini H; Lindfors, Katri K; Kurppa, Kalle K

Publication Date: 2021-06

Variant appearance in text: rs3748816

PubMed Link: 32705440

Variant Present in the following documents:

• Main text
• 10620_2020_Article_6490.pdf

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: MMEL1: M518T; rs3748816

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: MMEL1: M518T

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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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: MMEL1: M518T; rs3748816

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Physiological Genomics

Shepard, C Joy CJ; Cline, Sara G SG; Hinds, David D; Jahanbakhsh, Seyedehameneh S; Prokop, Jeremy W JW

Publication Date: 2019-11-01

Variant appearance in text: MMEL1: M518T

PubMed Link: 31482761

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption.

Human Molecular Genetics

Fernandez-Jimenez, Nora N; Bilbao, Jose Ramon JR

Publication Date: 2019-09-15

Variant appearance in text: rs3748816

PubMed Link: 31127932

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary biliary cirrhosis: Family, genes, and bugs.

Clinical Liver Disease

Mells, George F GF

Publication Date: 2014-04

Variant appearance in text: rs3748816

PubMed Link: 30992889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.

Molecular Genetics & Genomic Medicine

Hoang, Thanh T TT; Lei, Yunping Y; Mitchell, Laura E LE; Sharma, Shreela V SV; Swartz, Michael D MD; Waller, D Kim DK; Finnell, Richard H RH; Benjamin, Renata H RH; Browne, Marilyn L ML; Canfield, Mark A MA; Lupo, Philip J PJ; McKenzie, Paige P; Shaw, Gary M GM; Agopian, A J AJ; ,

Publication Date: 2019-06

Variant appearance in text: rs3748816

PubMed Link: 30968606

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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: MMEL1: 1553T>C; rs3748816

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: MMEL1: M518T; rs3748816

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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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: MMEL1: M518T; rs3748816

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: MMEL1: 1553T>C; Met518Thr; rs3748816

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genome-Wide Identification of N6-Methyladenosine (m6A) SNPs Associated With Rheumatoid Arthritis.

Frontiers In Genetics

Mo, Xing-Bo XB; Zhang, Yong-Hong YH; Lei, Shu-Feng SF

Publication Date: 2018

Variant appearance in text: rs3748816

PubMed Link: 30123242

Variant Present in the following documents:

• Main text

View BVdb publication page

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ClusterMI: Detecting High-Order SNP Interactions Based on Clustering and Mutual Information.

International Journal Of Molecular Sciences

Cao, Xia X; Yu, Guoxian G; Liu, Jie J; Jia, Lianyin L; Wang, Jun J

Publication Date: 2018-08-02

Variant appearance in text: rs3748816

PubMed Link: 30072632

Variant Present in the following documents:

• Main text
• ijms-19-02267.pdf

View BVdb publication page

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature

Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC

Publication Date: 2017-07-13

Variant appearance in text: MMEL1: M518T; rs3748816

PubMed Link: 28658209

Variant Present in the following documents:

• NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 3
• NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2

View BVdb publication page

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Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.

Plos One

Koire, Amanda A; Kim, Young Won YW; Wang, Jarey J; Katsonis, Panagiotis P; Jin, Haijing H; Lichtarge, Olivier O

Publication Date: 2017

Variant appearance in text: MMEL1: M518T

PubMed Link: 28350864

Variant Present in the following documents:

• pone.0174766.s004.xlsx, sheet 1

View BVdb publication page

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Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.

Journal Of Immunology Research

Joshita, Satoru S; Umemura, Takeji T; Tanaka, Eiji E; Ota, Masao M

Publication Date: 2017

Variant appearance in text: rs3748816

PubMed Link: 28255561

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.

Bmc Genomics

Singh, Prashant K PK; van den Berg, Patrick R PR; Long, Mark D MD; Vreugdenhil, Angie A; Grieshober, Laurie L; Ochs-Balcom, Heather M HM; Wang, Jianmin J; Delcambre, Sylvie S; Heikkinen, Sami S; Carlberg, Carsten C; Campbell, Moray J MJ; Sucheston-Campbell, Lara E LE

Publication Date: 2017-02-06

Variant appearance in text: rs3748816

PubMed Link: 28166722

Variant Present in the following documents:

• Main text
• 12864_2017_Article_3481.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: rs3748816

PubMed Link: 27417569

Variant Present in the following documents:

• Main text
• APT-44-554.pdf

View BVdb publication page

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Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.

Disease Markers

Saadah, Omar I OI; Shaik, Noor Ahmad NA; Banaganapalli, Babajan B; Salama, Mohammed A MA; Al-Harthi, Sameer E SE; Wang, Jun J; Shawoosh, Harbi A HA; Alghamdi, Sharifa A SA; Bin-Taleb, Yagoub Y YY; Alhussaini, Bakr H BH; Elango, Ramu R; Al-Aama, Jumana Y JY

Publication Date: 2015

Variant appearance in text: MMEL1: 1553T>C; Met518Thr; rs3748816

PubMed Link: 26843707

Variant Present in the following documents:

• Main text
• DM2015-351673.pdf

View BVdb publication page

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Genome-Wide Association Studies in Primary Biliary Cirrhosis.

Seminars In Liver Disease

Gulamhusein, Aliya F AF; Juran, Brian D BD; Lazaridis, Konstantinos N KN

Publication Date: 2015-11

Variant appearance in text: rs3748816

PubMed Link: 26676814

Variant Present in the following documents:

• Main text

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: rs3748816

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genome-Wide Association Study Reveals Host Genetic Factors for Liver Diseases.

Journal Of Clinical And Translational Hepatology

Nishida, Nao N; Tokunaga, Katsushi K; Mizokami, Masashi M

Publication Date: 2013-09

Variant appearance in text: rs3748816

PubMed Link: 26357606

Variant Present in the following documents:

• Main text
• JCTH-1-045.pdf

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The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Journal Of Autoimmunity

Webb, G J GJ; Siminovitch, K A KA; Hirschfield, G M GM

Publication Date: 2015-11

Variant appearance in text: rs3748816

PubMed Link: 26250073

Variant Present in the following documents:

• Main text

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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: MMEL1: M518T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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The cumulative effects of known susceptibility variants to predict primary biliary cirrhosis risk.

Genes And Immunity

Tang, R R; Chen, H H; Miao, Q Q; Bian, Z Z; Ma, W W; Feng, X X; Seldin, M F MF; Invernizzi, P P; Gershwin, M E ME; Liao, W W; Ma, X X

Publication Date: 2015

Variant appearance in text: rs3748816

PubMed Link: 25569263

Variant Present in the following documents:

• Main text

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Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

The Journal Of Allergy And Clinical Immunology

Seidel, Markus G MG; Hirschmugl, Tatjana T; Gamez-Diaz, Laura L; Schwinger, Wolfgang W; Serwas, Nina N; Deutschmann, Andrea A; Gorkiewicz, Gregor G; Zenz, Werner W; Windpassinger, Christian C; Grimbacher, Bodo B; Urban, Christian C; Boztug, Kaan K

Publication Date: 2015-05

Variant appearance in text: rs3748816

PubMed Link: 25539626

Variant Present in the following documents:

• Main text

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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: MMEL1: M518T; rs3748816

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: MMEL1: M518T; rs3748816

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Single nucleotide polymorphism (SNP)-strings: an alternative method for assessing genetic associations.

Plos One

Goodin, Douglas S DS; Khankhanian, Pouya P

Publication Date: 2014

Variant appearance in text: rs3748816

PubMed Link: 24727690

Variant Present in the following documents:

• Main text
• pone.0090034.pdf

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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: rs3748816

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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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs3748816

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.

American Journal Of Human Genetics

,

Publication Date: 2013-06-06

Variant appearance in text: rs3748816

PubMed Link: 23731539

Variant Present in the following documents:

• Main text

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Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Nature Genetics

Liu, Jimmy Z JZ; Hov, Johannes Roksund JR; Folseraas, Trine T; Ellinghaus, Eva E; Rushbrook, Simon M SM; Doncheva, Nadezhda T NT; Andreassen, Ole A OA; Weersma, Rinse K RK; Weismüller, Tobias J TJ; Eksteen, Bertus B; Invernizzi, Pietro P; Hirschfield, Gideon M GM; Gotthardt, Daniel Nils DN; Pares, Albert A; Ellinghaus, David D; Shah, Tejas T; Juran, Brian D BD; Milkiewicz, Piotr P; Rust, Christian C; Schramm, Christoph C; Müller, Tobias T; Srivastava, Brijesh B; Dalekos, Georgios G; Nöthen, Markus M MM; Herms, Stefan S; Winkelmann, Juliane J; Mitrovic, Mitja M; Braun, Felix F; Ponsioen, Cyriel Y CY; Croucher, Peter J P PJ; Sterneck, Martina M; Teufel, Andreas A; Mason, Andrew L AL; Saarela, Janna J; Leppa, Virpi V; Dorfman, Ruslan R; Alvaro, Domenico D; Floreani, Annarosa A; Onengut-Gumuscu, Suna S; Rich, Stephen S SS; Thompson, Wesley K WK; Schork, Andrew J AJ; Næss, Sigrid S; Thomsen, Ingo I; Mayr, Gabriele G; König, Inke R IR; Hveem, Kristian K; Cleynen, Isabelle I; Gutierrez-Achury, Javier J; Ricaño-Ponce, Isis I; van Heel, David D; Björnsson, Einar E; Sandford, Richard N RN; Durie, Peter R PR; Melum, Espen E; Vatn, Morten H MH; Silverberg, Mark S MS; Duerr, Richard H RH; Padyukov, Leonid L; Brand, Stephan S; Sans, Miquel M; Annese, Vito V; Achkar, Jean-Paul JP; Boberg, Kirsten Muri KM; Marschall, Hanns-Ulrich HU; Chazouillères, Olivier O; Bowlus, Christopher L CL; Wijmenga, Cisca C; Schrumpf, Erik E; Vermeire, Severine S; Albrecht, Mario M; , ; Rioux, John D JD; Alexander, Graeme G; Bergquist, Annika A; Cho, Judy J; Schreiber, Stefan S; Manns, Michael P MP; Färkkilä, Martti M; Dale, Anders M AM; Chapman, Roger W RW; Lazaridis, Konstantinos N KN; , ; Franke, Andre A; Anderson, Carl A CA; Karlsen, Tom H TH; ,

Publication Date: 2013-06

Variant appearance in text: rs3748816

PubMed Link: 23603763

Variant Present in the following documents:

• Main text

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