WFS1 c.1367G>A ;(p.R456H)

Variant ID: 4-6302889-G-A

NM_006005.3(WFS1):c.1367G>A;(p.R456H)

This variant was identified in 45 publications

View GRCh38 version.




Publications:


Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.

Basic And Clinical Neuroscience
Mirfazeli, Fatemeh Sadat FS; Mohebi, Fatemeh F; Jahanbakhshi, Amin A; Aryani, Omid O; Almasi-Dooghaee, Mostafa M
Publication Date: 2022

Variant appearance in text: WFS1: R456H
PubMed Link: 37323959
Variant Present in the following documents:
  • Main text
  • BCN-13-893.pdf
View BVdb publication page



Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.

Journal Of The Asean Federation Of Endocrine Societies
Jan, Asif A; Saeed, Muhammad M; Zakiullah, ; Akbar, Rani R; Khan, Hamayun H
Publication Date: 2023

Variant appearance in text: WFS1: 1367G>A; Arg456His; rs1801208
PubMed Link: 37234924
Variant Present in the following documents:
  • Main text
  • JAFES-38-S1-48.pdf
View BVdb publication page



Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: WFS1: 1367G>A; Arg456His
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Frontiers In Endocrinology
Ding, Yu Y; Li, Zhe Z; Zhang, Qianwen Q; Li, Niu N; Chang, Guoying G; Wang, Yirou Y; Li, Xin X; Li, Juan J; Li, Qun Q; Yao, Ru-En RE; Li, Xin X; Wang, Xiumin X
Publication Date: 2023

Variant appearance in text: WFS1: 1367G>A
PubMed Link: 36967753
Variant Present in the following documents:
  • Main text
  • fendo-14-1066320.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 3
  • can-22-2224_table_s8_suppst8.xlsx, sheet 8
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 35687490
Variant Present in the following documents:
  • advancesADV2021006654-suppl4.xlsx, sheet 26
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Nature Communications
Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ
Publication Date: 2021-11-23

Variant appearance in text: WFS1: R456H
PubMed Link: 34815418
Variant Present in the following documents:
  • 41467_2021_27156_MOESM1_ESM.pdf
View BVdb publication page



Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Nature Communications
Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ
Publication Date: 2021-11-23

Variant appearance in text: WFS1: R456H
PubMed Link: 34815418
Variant Present in the following documents:
  • 41467_2021_27156_MOESM1_ESM.pdf
View BVdb publication page



A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

International Journal Of Molecular Sciences
Delvecchio, Maurizio M; Ortolani, Federica F; Palumbo, Orazio O; Aloi, Concetta C; Salina, Alessandro A; Susca, Francesco Claudio FC; Palumbo, Pietro P; Carella, Massimo M; Resta, Nicoletta N; Piccinno, Elvira E
Publication Date: 2021-07-28

Variant appearance in text: rs1801208
PubMed Link: 34360843
Variant Present in the following documents:
  • Main text
  • ijms-22-08082.pdf
View BVdb publication page



β-Cell failure in diabetes: Common susceptibility and mechanisms shared between type 1 and type 2 diabetes.

Journal Of Diabetes Investigation
Ikegami, Hiroshi H; Babaya, Naru N; Noso, Shinsuke S
Publication Date: 2021-09

Variant appearance in text: WFS1: Arg456His
PubMed Link: 33993642
Variant Present in the following documents:
  • JDI-12-1526.pdf
View BVdb publication page



Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 1
  • Supplementary_Data1.xlsx, sheet 2
  • Supplementary_Data1.xlsx, sheet 3
View BVdb publication page



Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort.

Molecular Genetics & Genomic Medicine
Li, Jian-Kang JK; Li, Li-Li LL; Li, Wei W; Wang, Zi-Wei ZW; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Qu, Shou-Fang SF; Huang, Jie J; Wang, Lu-Sheng LS; Wu, Ji-Hong JH; Chen, Fang F
Publication Date: 2020-07

Variant appearance in text: rs1801208
PubMed Link: 32337810
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: WFS1: 1367G>A; R456H; rs1801208
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: WFS1: 1367G>A; Arg456His; rs1801208
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.

Molecular Medicine Reports
Glotov, Oleg S OS; Serebryakova, Elena A EA; Turkunova, Mariia E ME; Efimova, Olga A OA; Glotov, Andrey S AS; Barbitoff, Yury A YA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Fedyakov, Mikhail A MA; Polyakova, Irina V IV; Ivashchenko, Tatyana E TE; Shved, Natalia Y NY; Shabanova, Elena S ES; Tiselko, Alena V AV; Romanova, Olga V OV; Sarana, Andrey M AM; Pendina, Anna A AA; Scherbak, Sergey G SG; Musina, Ekaterina V EV; Petrovskaia-Kaminskaia, Anastasiia V AV; Lonishin, Liubov R LR; Ditkovskaya, Liliya V LV; Zhelenina, Liudmila А LА; Tyrtova, Ludmila V LV; Berseneva, Olga S OS; Skitchenko, Rostislav K RK; Suspitsin, Evgenii N EN; Bashnina, Elena B EB; Baranov, Vladislav S VS
Publication Date: 2019-12

Variant appearance in text: WFS1: Arg456His
PubMed Link: 31638168
Variant Present in the following documents:
  • mmr-20-06-4905.pdf
View BVdb publication page



Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Nature
Flannick, Jason J; Mercader, Josep M JM; Fuchsberger, Christian C; Udler, Miriam S MS; Mahajan, Anubha A; Wessel, Jennifer J; Teslovich, Tanya M TM; Caulkins, Lizz L; Koesterer, Ryan R; Barajas-Olmos, Francisco F; Blackwell, Thomas W TW; Boerwinkle, Eric E; Brody, Jennifer A JA; Centeno-Cruz, Federico F; Chen, Ling L; Chen, Siying S; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; Cortes, Maria M; DeFronzo, Ralph A RA; Dolan, Lawrence L; Drews, Kimberly L KL; Elliott, Amanda A; Floyd, James S JS; Gabriel, Stacey S; Garay-Sevilla, Maria Eugenia ME; García-Ortiz, Humberto H; Gross, Myron M; Han, Sohee S; Heard-Costa, Nancy L NL; Jackson, Anne U AU; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kelsey, Megan M; Kim, Bong-Jo BJ; Koistinen, Heikki A HA; Kuusisto, Johanna J; Leader, Joseph B JB; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jianjun J; Lyssenko, Valeriya V; Manning, Alisa K AK; Marcketta, Anthony A; Malacara-Hernandez, Juan Manuel JM; Martínez-Hernández, Angélica A; Matsuo, Karen K; Mayer-Davis, Elizabeth E; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morrison, Alanna C AC; Ndungu, Anne A; Ng, Maggie C Y MCY; O'Dushlaine, Colm C; Payne, Anthony J AJ; Pihoker, Catherine C; , ; Post, Wendy S WS; Preuss, Michael M; Psaty, Bruce M BM; Vasan, Ramachandran S RS; Rayner, N William NW; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Robertson, Neil R NR; Santoro, Nicola N; Schurmann, Claudia C; So, Wing Yee WY; Soberón, Xavier X; Stringham, Heather M HM; Strom, Tim M TM; Tam, Claudia H T CHT; Thameem, Farook F; Tomlinson, Brian B; Torres, Jason M JM; Tracy, Russell P RP; van Dam, Rob M RM; Vujkovic, Marijana M; Wang, Shuai S; Welch, Ryan P RP; Witte, Daniel R DR; Wong, Tien-Yin TY; Atzmon, Gil G; Barzilai, Nir N; Blangero, John J; Bonnycastle, Lori L LL; Bowden, Donald W DW; Chambers, John C JC; Chan, Edmund E; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Collins, Francis S FS; de Vries, Paul S PS; Duggirala, Ravindranath R; Glaser, Benjamin B; Gonzalez, Clicerio C; Gonzalez, Ma Elena ME; Groop, Leif L; Kooner, Jaspal Singh JS; Kwak, Soo Heon SH; Laakso, Markku M; Lehman, Donna M DM; Nilsson, Peter P; Spector, Timothy D TD; Tai, E Shyong ES; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wilson, James G JG; Aguilar-Salinas, Carlos A CA; Bottinger, Erwin E; Burke, Brian B; Carey, David J DJ; Chan, Juliana C N JCN; Dupuis, Josée J; Frossard, Philippe P; Heckbert, Susan R SR; Hwang, Mi Yeong MY; Kim, Young Jin YJ; Kirchner, H Lester HL; Lee, Jong-Young JY; Lee, Juyoung J; Loos, Ruth J F RJF; Ma, Ronald C W RCW; Morris, Andrew D AD; O'Donnell, Christopher J CJ; Palmer, Colin N A CNA; Pankow, James J; Park, Kyong Soo KS; Rasheed, Asif A; Saleheen, Danish D; Sim, Xueling X; Small, Kerrin S KS; Teo, Yik Ying YY; Haiman, Christopher C; Hanis, Craig L CL; Henderson, Brian E BE; Orozco, Lorena L; Tusié-Luna, Teresa T; Dewey, Frederick E FE; Baras, Aris A; Gieger, Christian C; Meitinger, Thomas T; Strauch, Konstantin K; Lange, Leslie L; Grarup, Niels N; Hansen, Torben T; Pedersen, Oluf O; Zeitler, Philip P; Dabelea, Dana D; Abecasis, Goncalo G; Bell, Graeme I GI; Cox, Nancy J NJ; Seielstad, Mark M; Sladek, Rob R; Meigs, James B JB; Rich, Steve S SS; Rotter, Jerome I JI; , ; , ; , ; , ; , ; , ; , ; , ; , ; Altshuler, David D; Burtt, Noël P NP; Scott, Laura J LJ; Morris, Andrew P AP; Florez, Jose C JC; McCarthy, Mark I MI; Boehnke, Michael M
Publication Date: 2019-06

Variant appearance in text: WFS1: Arg456His; rs1801208
PubMed Link: 31118516
Variant Present in the following documents:
  • 41586_2019_1231_MOESM1_ESM.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: WFS1: 1367G>A; Arg456His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: WFS1: R456H; rs1801208
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: WFS1: 1367G>A; R456H; rs1801208
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.

Molecular Metabolism
Cnop, Miriam M; Toivonen, Sanna S; Igoillo-Esteve, Mariana M; Salpea, Paraskevi P
Publication Date: 2017-09

Variant appearance in text: WFS: Arg456His
PubMed Link: 28951826
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics
Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C
Publication Date: 2017-08-03

Variant appearance in text: rs1801208
PubMed Link: 28757201
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science
Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A
Publication Date: 2016-11-01

Variant appearance in text: WFS1: R456H
PubMed Link: 27898983
Variant Present in the following documents:
  • iovs-57-14-17_s03.xlsx, sheet 1
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: WFS1: R456H
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Endocrine Reviews
Yang, Yisheng Y; Chan, Lawrence L
Publication Date: 2016-06

Variant appearance in text: WFS1: R456H
PubMed Link: 27035557
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: WFS1: R456H; rs1801208
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: WFS1: 1367G>A; R456H; rs1801208
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
  • pone.0140684.s004.xlsx, sheet 4
View BVdb publication page



Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.

Plos One
Elek, Zsuzsanna Z; Németh, Nóra N; Nagy, Géza G; Németh, Helga H; Somogyi, Anikó A; Hosszufalusi, Nóra N; Sasvári-Székely, Mária M; Rónai, Zsolt Z
Publication Date: 2015

Variant appearance in text: rs1801208
PubMed Link: 26426397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Frontiers In Pediatrics
Valencia, C Alexander CA; Husami, Ammar A; Holle, Jennifer J; Johnson, Judith A JA; Qian, Yaping Y; Mathur, Abhinav A; Wei, Chao C; Indugula, Subba Rao SR; Zou, Fanggeng F; Meng, Haiying H; Wang, Lijun L; Li, Xia X; Fisher, Rachel R; Tan, Tony T; Hogart Begtrup, Amber A; Collins, Kathleen K; Wusik, Katie A KA; Neilson, Derek D; Burrow, Thomas T; Schorry, Elizabeth E; Hopkin, Robert R; Keddache, Mehdi M; Harley, John Barker JB; Kaufman, Kenneth M KM; Zhang, Kejian K
Publication Date: 2015

Variant appearance in text: WFS1: 1367G>A; R456H
PubMed Link: 26284228
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: WFS1: R456H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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Evaluation of exome sequencing variation in undiagnosed ataxias.

Brain : A Journal Of Neurology
Sandford, Erin E; Li, Jun Z JZ; Burmeister, Margit M
Publication Date: 2015-10

Variant appearance in text: WFS1: Arg456His
PubMed Link: 25842391
Variant Present in the following documents:
  • Main text
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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: WFS1: R456H; rs1801208
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
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Exome sequencing in undiagnosed inherited and sporadic ataxias.

Brain : A Journal Of Neurology
Pyle, Angela A; Smertenko, Tania T; Bargiela, David D; Griffin, Helen H; Duff, Jennifer J; Appleton, Marie M; Douroudis, Konstantinos K; Pfeffer, Gerald G; Santibanez-Koref, Mauro M; Eglon, Gail G; Yu-Wai-Man, Patrick P; Ramesh, Venkateswaran V; Horvath, Rita R; Chinnery, Patrick F PF
Publication Date: 2015-02

Variant appearance in text: WFS1: 1367G>A; Arg456His
PubMed Link: 25497598
Variant Present in the following documents:
  • Main text
  • awu348.pdf
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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: WFS1: R456H; rs1801208
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Plos One
Matsunaga, Kimie K; Tanabe, Katsuya K; Inoue, Hiroshi H; Okuya, Shigeru S; Ohta, Yasuharu Y; Akiyama, Masaru M; Taguchi, Akihiko A; Kora, Yukari Y; Okayama, Naoko N; Yamada, Yuichiro Y; Wada, Yasuhiko Y; Amemiya, Shin S; Sugihara, Shigetaka S; Nakao, Yuzo Y; Oka, Yoshitomo Y; Tanizawa, Yukio Y
Publication Date: 2014

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 25211237
Variant Present in the following documents:
  • pone.0106906.s001.pdf
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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
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Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

Diabetes
Bonnycastle, Lori L LL; Chines, Peter S PS; Hara, Takashi T; Huyghe, Jeroen R JR; Swift, Amy J AJ; Heikinheimo, Pirkko P; Mahadevan, Jana J; Peltonen, Sirkku S; Huopio, Hanna H; Nuutila, Pirjo P; Narisu, Narisu N; Goldfeder, Rachel L RL; Stitzel, Michael L ML; Lu, Simin S; Boehnke, Michael M; Urano, Fumihiko F; Collins, Francis S FS; Laakso, Markku M
Publication Date: 2013-11

Variant appearance in text: WFS1: Arg456His
PubMed Link: 23903355
Variant Present in the following documents:
  • 3943.pdf
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Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

American Journal Of Human Genetics
Saxena, Richa R; Elbers, Clara C CC; Guo, Yiran Y; Peter, Inga I; Gaunt, Tom R TR; Mega, Jessica L JL; Lanktree, Matthew B MB; Tare, Archana A; Castillo, Berta Almoguera BA; Li, Yun R YR; Johnson, Toby T; Bruinenberg, Marcel M; Gilbert-Diamond, Diane D; Rajagopalan, Ramakrishnan R; Voight, Benjamin F BF; Balasubramanyam, Ashok A; Barnard, John J; Bauer, Florianne F; Baumert, Jens J; Bhangale, Tushar T; Böhm, Bernhard O BO; Braund, Peter S PS; Burton, Paul R PR; Chandrupatla, Hareesh R HR; Clarke, Robert R; Cooper-DeHoff, Rhonda M RM; Crook, Errol D ED; Davey-Smith, George G; Day, Ian N IN; de Boer, Anthonius A; de Groot, Mark C H MC; Drenos, Fotios F; Ferguson, Jane J; Fox, Caroline S CS; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Gilhuijs-Pederson, Lisa A LA; Glessner, Joseph T JT; Goel, Anuj A; Gong, Yan Y; Grant, Struan F A SF; Grobbee, Diederick E DE; Hastie, Claire C; Humphries, Steve E SE; Kim, Cecilia E CE; Kivimaki, Mika M; Kleber, Marcus M; Meisinger, Christa C; Kumari, Meena M; Langaee, Taimour Y TY; Lawlor, Debbie A DA; Li, Mingyao M; Lobmeyer, Maximilian T MT; Maitland-van der Zee, Anke-Hilse AH; Meijs, Matthijs F L MF; Molony, Cliona M CM; Morrow, David A DA; Murugesan, Gurunathan G; Musani, Solomon K SK; Nelson, Christopher P CP; Newhouse, Stephen J SJ; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Palmen, Jutta J; Patel, Sanjey R SR; Pepine, Carl J CJ; Pettinger, Mary M; Price, Thomas S TS; Rafelt, Suzanne S; Ranchalis, Jane J; Rasheed, Asif A; Rosenthal, Elisabeth E; Ruczinski, Ingo I; Shah, Sonia S; Shen, Haiqing H; Silbernagel, Günther G; Smith, Erin N EN; Spijkerman, Annemieke W M AW; Stanton, Alice A; Steffes, Michael W MW; Thorand, Barbara B; Trip, Mieke M; van der Harst, Pim P; van der A, Daphne L DL; van Iperen, Erik P A EP; van Setten, Jessica J; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Wolffenbuttel, Bruce H R BH; Young, Taylor T; Zafarmand, M Hadi MH; Zmuda, Joseph M JM; , ; , ; Boehnke, Michael M; Altshuler, David D; McCarthy, Mark M; Kao, W H Linda WH; Pankow, James S JS; Cappola, Thomas P TP; Sever, Peter P; Poulter, Neil N; Caulfield, Mark M; Dominiczak, Anna A; Shields, Denis C DC; Bhatt, Deepak L DL; Bhatt, Deepak D; Zhang, Li L; Curtis, Sean P SP; Danesh, John J; Casas, Juan P JP; van der Schouw, Yvonne T YT; Onland-Moret, N Charlotte NC; Doevendans, Pieter A PA; Dorn, Gerald W GW; Farrall, Martin M; FitzGerald, Garret A GA; Hamsten, Anders A; Hegele, Robert R; Hingorani, Aroon D AD; Hofker, Marten H MH; Huggins, Gordon S GS; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Klungel, Olaf H OH; Knowler, William C WC; Koenig, Wolfgang W; März, Winfried W; Meigs, James B JB; Melander, Olle O; Munroe, Patricia B PB; Mitchell, Braxton D BD; Bielinski, Susan J SJ; Rader, Daniel J DJ; Reilly, Muredach P MP; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Samani, Nilesh J NJ; Schadt, Eric E EE; Shuldiner, Alan R AR; Silverstein, Roy R; Kottke-Marchant, Kandice K; Talmud, Philippa J PJ; Watkins, Hugh H; Asselbergs, Folkert W FW; Asselbergs, Folkert F; de Bakker, Paul I W PI; McCaffery, Jeanne J; Wijmenga, Cisca C; Sabatine, Marc S MS; Wilson, James G JG; Reiner, Alex A; Bowden, Donald W DW; Hakonarson, Hakon H; Siscovick, David S DS; Keating, Brendan J BJ
Publication Date: 2012-03-09

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 22325160
Variant Present in the following documents:
  • Main text
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Wolfram syndrome: new mutations, different phenotype.

Plos One
Aloi, Concetta C; Salina, Alessandro A; Pasquali, Lorenzo L; Lugani, Francesca F; Perri, Katia K; Russo, Chiara C; Tallone, Ramona R; Ghiggeri, Gian Marco GM; Lorini, Renata R; d'Annunzio, Giuseppe G
Publication Date: 2012

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 22238590
Variant Present in the following documents:
  • Main text
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Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Diabetes Care
Rohayem, Julia J; Ehlers, Christian C; Wiedemann, Bärbel B; Holl, Reinhard R; Oexle, Konrad K; Kordonouri, Olga O; Salzano, Giuseppina G; Meissner, Thomas T; Burger, Walter W; Schober, Edith E; Huebner, Angela A; Lee-Kirsch, Min Ae MA; ,
Publication Date: 2011-07

Variant appearance in text: WFS1: R456H
PubMed Link: 21602428
Variant Present in the following documents:
  • Main text
  • 1503.pdf
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Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

Diabetes
Fawcett, Katherine A KA; Wheeler, Eleanor E; Morris, Andrew P AP; Ricketts, Sally L SL; Hallmans, Göran G; Rolandsson, Olov O; Daly, Allan A; Wasson, Jon J; Permutt, Alan A; Hattersley, Andrew T AT; Glaser, Benjamin B; Franks, Paul W PW; McCarthy, Mark I MI; Wareham, Nicholas J NJ; Sandhu, Manjinder S MS; Barroso, Inês I
Publication Date: 2010-03

Variant appearance in text: WFS1: R456H; rs1801208
PubMed Link: 20028947
Variant Present in the following documents:
  • Main text
  • zdb741.pdf
  • supp_db09-0920_db09-0920online_appendix.pdf
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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

American Journal Of Medical Genetics. Part A
Hildebrand, Michael S MS; Sorensen, Jessica L JL; Jensen, Maren M; Kimberling, William J WJ; Smith, Richard J H RJ
Publication Date: 2008-09-01

Variant appearance in text: WFS1: R456H
PubMed Link: 18688868
Variant Present in the following documents:
  • Main text
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Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Human Molecular Genetics
Bespalova, I N IN; Van Camp, G G; Bom, S J SJ; Brown, D J DJ; Cryns, K K; DeWan, A T AT; Erson, A E AE; Flothmann, K K; Kunst, H P HP; Kurnool, P P; Sivakumaran, T A TA; Cremers, C W CW; Leal, S M SM; Burmeister, M M; Lesperance, M M MM
Publication Date: 2001-10-15

Variant appearance in text: DFNA6: R456H
PubMed Link: 11709537
Variant Present in the following documents:
  • Main text
View BVdb publication page