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: LCT: V219I

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: LCT: V219I; rs3754689

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: LCT: V219I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_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: LCT: V219I

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

View BVdb publication page

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Inflammation, microbiome and colorectal cancer disparity in African-Americans: Are there bugs in the genetics?

World Journal Of Gastroenterology

Ahmad, Sami S; Ashktorab, Hassan H; Brim, Hassan H; Housseau, Franck F

Publication Date: 2022-07-07

Variant appearance in text: rs3754689

PubMed Link: 35978869

Variant Present in the following documents:

• WJG-28-2782.pdf

View BVdb publication page

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Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Spena, Silvia S; Cairo, Andrea A; Pappalardo, Emanuela E; Gorski, Marcin M MM; Garagiola, Isabella I; Hassan, Shermarke S; Gualtierotti, Roberta R; Peyvandi, Flora F

Publication Date: 2022-03

Variant appearance in text: LCT: Val219Ile; rs3754689

PubMed Link: 35182444

Variant Present in the following documents:

• Main text
• HAE-28-270.pdf

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: LCT: 655G>A; V219I; rs3754689

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Ileal Lactase Expression Associates with Lactase Persistence Genotypes.

Nutrients

Nowak, Jan Krzysztof JK; Dybska, Emilia E; Dworacka, Marzena M; Tsikhan, Natallia N; Kononets, Victoria V; Bermagambetova, Saule S; Walkowiak, Jarosław J

Publication Date: 2021-04-17

Variant appearance in text: rs3754689

PubMed Link: 33920682

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: LCT: Val219Ile; rs3754689

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: LCT: 655G>A; V219I; rs3754689

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: LCT: 655G>A; V219I; rs3754689

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota.

Communications Biology

Ishida, Sachiko S; Kato, Kumiko K; Tanaka, Masami M; Odamaki, Toshitaka T; Kubo, Ryuichi R; Mitsuyama, Eri E; Xiao, Jin-Zhong JZ; Yamaguchi, Rui R; Uematsu, Satoshi S; Imoto, Seiya S; Miyano, Satoru S

Publication Date: 2020-11-18

Variant appearance in text: rs3754689

PubMed Link: 33208821

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1416.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: LCT: V219I; rs3754689

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

European Journal Of Human Genetics : Ejhg

Spitali, Pietro P; Zaharieva, Irina I; Bohringer, Stefan S; Hiller, Monika M; Chaouch, Amina A; Roos, Andreas A; Scotton, Chiara C; Claustres, Mireille M; Bello, Luca L; McDonald, Craig M CM; Hoffman, Eric P EP; , ; Koeks, Zaida Z; Eka Suchiman, H H; Cirak, Sebahattin S; Scoto, Mariacristina M; Reza, Mojgan M; 't Hoen, Peter A C PAC; Niks, Erik H EH; Tuffery-Giraud, Sylvie S; Lochmüller, Hanns H; Ferlini, Alessandra A; Muntoni, Francesco F; Aartsma-Rus, Annemieke A

Publication Date: 2020-06

Variant appearance in text: rs3754689

PubMed Link: 31896777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: LCT: Val219Ile; rs3754689

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.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: LCT: 655G>A; Val219Ile; rs3754689

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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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: LCT: V219I; rs3754689

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: LCT: V219I

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

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: LCT: V219I; rs3754689

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A.

Haematologica

Zuccherato, Luciana W LW; Elói-Santos, Silvana M SM; Jardim, Letícia L LL; Camelo, Ricardo M RM; Chaves, Daniel G DG; Souza, Renan P RP; Hollox, Edward J EJ; Rezende, Suely M SM

Publication Date: 2019-11

Variant appearance in text: rs3754689

PubMed Link: 30872367

Variant Present in the following documents:

• Main text

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: rs3754689

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.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: LCT: V219I; rs3754689

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: rs3754689

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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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: LCT: 655G>A; Val219Ile; rs3754689

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Adaptation to milking agropastoralism in Chilean goat herders and nutritional benefit of lactase persistence.

Annals Of Human Genetics

Montalva, Nicolás N; Adhikari, Kaustubh K; Liebert, Anke A; Mendoza-Revilla, Javier J; Flores, Sergio V SV; Mace, Ruth R; Swallow, Dallas M DM

Publication Date: 2019-01

Variant appearance in text: rs3754689

PubMed Link: 30264486

Variant Present in the following documents:

• Main text
• AHG-83-11-s001.pdf
• AHG-83-11.pdf

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: LCT: 655G>A; V219I; rs3754689

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.

Human Genetics

Liebert, Anke A; López, Saioa S; Jones, Bryony Leigh BL; Montalva, Nicolas N; Gerbault, Pascale P; Lau, Winston W; Thomas, Mark G MG; Bradman, Neil N; Maniatis, Nikolas N; Swallow, Dallas M DM

Publication Date: 2017-11

Variant appearance in text: rs3754689

PubMed Link: 29063188

Variant Present in the following documents:

• 439_2017_1847_MOESM1_ESM.pdf

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: LCT: V219I

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: LCT: V219I

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 3

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: rs3754689

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: LCT: 655G>A; V219I; rs3754689

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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Host genetic variation impacts microbiome composition across human body sites.

Genome Biology

Blekhman, Ran R; Goodrich, Julia K JK; Huang, Katherine K; Sun, Qi Q; Bukowski, Robert R; Bell, Jordana T JT; Spector, Timothy D TD; Keinan, Alon A; Ley, Ruth E RE; Gevers, Dirk D; Clark, Andrew G AG

Publication Date: 2015-09-15

Variant appearance in text: rs3754689

PubMed Link: 26374288

Variant Present in the following documents:

• 13059_2015_759_MOESM2_ESM.pdf

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: LCT: 655G>A; V219I; rs3754689

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

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: LCT: V219I; rs3754689

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 genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: LCT: V219I; rs3754689

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: LCT: V219I; rs3754689

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, 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: LCT: V219I; rs3754689

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

Plos One

Blake, Jonathon J; Riddell, Andrew A; Theiss, Susanne S; Gonzalez, Alexis Perez AP; Haase, Bettina B; Jauch, Anna A; Janssen, Johannes W G JW; Ibberson, David D; Pavlinic, Dinko D; Moog, Ute U; Benes, Vladimir V; Runz, Heiko H

Publication Date: 2014

Variant appearance in text: LCT: V219I; rs3754689

PubMed Link: 24625750

Variant Present in the following documents:

• pone.0090894.s004.pdf

View BVdb publication page

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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: rs3754689

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.

Plos One

Friedrich, Deise C DC; Santos, Sidney E B SE; Ribeiro-dos-Santos, Ândrea K C ÂK; Hutz, Mara H MH

Publication Date: 2012

Variant appearance in text: rs3754689

PubMed Link: 23029545

Variant Present in the following documents:

• Main text
• pone.0046520.pdf

View BVdb publication page

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Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.

Genome Biology

Guha, Saurav S; Rosenfeld, Jeffrey A JA; Malhotra, Anil K AK; Lee, Annette T AT; Gregersen, Peter K PK; Kane, John M JM; Pe'er, Itsik I; Darvasi, Ariel A; Lencz, Todd T

Publication Date: 2012-01-25

Variant appearance in text: rs3754689

PubMed Link: 22277159

Variant Present in the following documents:

• Main text
• gb-2012-13-1-r2.pdf

View BVdb publication page

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Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury.

American Journal Of Hematology

Muehlschlegel, Jochen D JD; Perry, Tjörvi E TE; Liu, Kuang-Yu KY; Fox, Amanda A AA; Smith, Shane A SA; Lichtner, Peter P; Collard, Charles D CD; Shernan, Stanton K SK; Hartwig, John H JH; Body, Simon C SC; Hoffmeister, Karin M KM

Publication Date: 2012-02

Variant appearance in text: rs3754689

PubMed Link: 22228373

Variant Present in the following documents:

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Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.

Circulation. Cardiovascular Genetics

Body, Simon C SC; Collard, Charles D CD; Shernan, Stanton K SK; Fox, Amanda A AA; Liu, Kuang-Yu KY; Ritchie, Marylyn D MD; Perry, Tjörvi E TE; Muehlschlegel, Jochen D JD; Aranki, Sary S; Donahue, Brian S BS; Pretorius, Mias M; Estrada, Juan-Carlos JC; Ellinor, Patrick T PT; Newton-Cheh, Christopher C; Seidman, Christine E CE; Seidman, J G JG; Herman, Daniel S DS; Lichtner, Peter P; Meitinger, Thomas T; Pfeufer, Arne A; Kääb, Stefan S; Brown, Nancy J NJ; Roden, Dan M DM; Darbar, Dawood D

Publication Date: 2009-10

Variant appearance in text: rs3754689

PubMed Link: 20031626

Variant Present in the following documents:

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Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.

Anesthesiology

Fox, Amanda A AA; Collard, Charles D CD; Shernan, Stanton K SK; Seidman, Christine E CE; Seidman, Jonathan G JG; Liu, Kuang-Yu KY; Muehlschlegel, Jochen D JD; Perry, Tjorvi E TE; Aranki, Sary F SF; Lange, Christoph C; Herman, Daniel S DS; Meitinger, Thomas T; Lichtner, Peter P; Body, Simon C SC

Publication Date: 2009-04

Variant appearance in text: rs3754689

PubMed Link: 19326473

Variant Present in the following documents:

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Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

American Journal Of Human Genetics

Kuokkanen, Mikko M; Kokkonen, Jorma J; Enattah, Nabil Sabri NS; Ylisaukko-Oja, Tero T; Komu, Hanna H; Varilo, Teppo T; Peltonen, Leena L; Savilahti, Erkki E; Jarvela, Irma I

Publication Date: 2006-02

Variant appearance in text: LCT: V219I; rs3754689

PubMed Link: 16400612

Variant Present in the following documents:

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