Publications:

---

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: NTAN1: S287P; rs1135999

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

---

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

Ejhaem

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

Publication Date: 2022-11

Variant appearance in text: rs1135999

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: NTAN1: 859T>C; Ser287Pro; rs1135999

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

---

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: NTAN1: 859T>C; S287P; rs1135999

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: NTAN1: 859T>C; Ser287Pro; rs1135999

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

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: NTAN1: S287P; rs1135999

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: NTAN1: S287P

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs1135999

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

---

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: NTAN1: S287P; rs1135999

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications

Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y

Publication Date: 2019-09-27

Variant appearance in text: rs1135999

PubMed Link: 31562340

Variant Present in the following documents:

• 41467_2019_12276_MOESM9_ESM.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: NTAN1: S287P; rs1135999

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

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: NTAN1: 859T>C; Ser287Pro; rs1135999

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs1135999

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs1135999

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

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

Publication Date: 2017-11-10

Variant appearance in text: NTAN1: S287P; rs1135999

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

---

Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports

Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K

Publication Date: 2017-07-20

Variant appearance in text: NTAN1: Ser287Pro; rs1135999

PubMed Link: 28729637

Variant Present in the following documents:

• 41598_2017_6158_MOESM1_ESM.pdf

View BVdb publication page

---

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

Human Genome Variation

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

Publication Date: 2017

Variant appearance in text: rs1135999

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

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

Orphanet Journal Of Rare Diseases

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

Publication Date: 2017-05-23

Variant appearance in text: NTAN1: S287P; rs1135999

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs1135999

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

---

Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.

Plos One

Qin, Longjuan L; Liu, Yuyong Y; Wang, Ya Y; Wu, Guiju G; Chen, Jie J; Ye, Weiyuan W; Yang, Jiancai J; Huang, Qingyang Q

Publication Date: 2016

Variant appearance in text: rs1135999

PubMed Link: 26930606

Variant Present in the following documents:

• Main text
• pone.0150070.pdf

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: rs1135999

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: NTAN1: S287P; rs1135999

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

---

New genetic loci link adipose and insulin biology to body fat distribution.

Nature

Shungin, Dmitry D; Winkler, Thomas W TW; Croteau-Chonka, Damien C DC; Ferreira, Teresa T; Locke, Adam E AE; Mägi, Reedik R; Strawbridge, Rona J RJ; Pers, Tune H TH; Fischer, Krista K; Justice, Anne E AE; Workalemahu, Tsegaselassie T; Wu, Joseph M W JMW; Buchkovich, Martin L ML; Heard-Costa, Nancy L NL; Roman, Tamara S TS; Drong, Alexander W AW; Song, Ci C; Gustafsson, Stefan S; Day, Felix R FR; Esko, Tonu T; Fall, Tove T; Kutalik, Zoltán Z; Luan, Jian'an J; Randall, Joshua C JC; Scherag, André A; Vedantam, Sailaja S; Wood, Andrew R AR; Chen, Jin J; Fehrmann, Rudolf R; Karjalainen, Juha J; Kahali, Bratati B; Liu, Ching-Ti CT; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Ehret, Georg B GB; Feitosa, Mary F MF; Goel, Anuj A; Jackson, Anne U AU; Johnson, Toby T; Kleber, Marcus E ME; Kristiansson, Kati K; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Stančáková, Alena A; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Van Vliet-Ostaptchouk, Jana V JV; Yengo, Loïc L; Zhang, Weihua W; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Bandinelli, Stefania S; Barrett, Amy A; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blüher, Matthias M; Böhringer, Stefan S; Bonnet, Fabrice F; Böttcher, Yvonne Y; Bruinenberg, Marcel M; Carba, Delia B DB; Caspersen, Ida H IH; Clarke, Robert R; Daw, E Warwick EW; Deelen, Joris J; Deelman, Ewa E; Delgado, Graciela G; Doney, Alex Sf AS; Eklund, Niina N; Erdos, Michael R MR; Estrada, Karol K; Eury, Elodie E; Friedrich, Nele N; Garcia, Melissa E ME; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grewal, Jagvir J; Groves, Christopher J CJ; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heikkilä, Kauko K; Herzig, Karl-Heinz KH; Helmer, Quinta Q; Hillege, Hans L HL; Holmen, Oddgeir O; Hunt, Steven C SC; Isaacs, Aaron A; Ittermann, Till T; James, Alan L AL; Johansson, Ingegerd I; Juliusdottir, Thorhildur T; Kalafati, Ioanna-Panagiota IP; Kinnunen, Leena L; Koenig, Wolfgang W; Kooner, Ishminder K IK; Kratzer, Wolfgang W; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lobbens, Stéphane S; Lorentzon, Mattias M; Mach, François F; Magnusson, Patrik Ke PK; Mahajan, Anubha A; McArdle, Wendy L WL; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Mills, Rebecca R; Moayyeri, Alireza A; Monda, Keri L KL; Mooijaart, Simon P SP; Mühleisen, Thomas W TW; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Nagaraja, Ramaiah R; Nalls, Michael A MA; Narisu, Narisu N; Glorioso, Nicola N; Nolte, Ilja M IM; Olden, Matthias M; Rayner, Nigel W NW; Renstrom, Frida F; Ried, Janina S JS; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Sennblad, Bengt B; Seufferlein, Thomas T; Sitlani, Colleen M CM; Smith, Albert Vernon AV; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tomaschitz, Andreas A; Troffa, Chiara C; van Oort, Floor Va FV; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Wennauer, Roman R; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Zhang, Qunyuan Q; Zhao, Jing Hua JH; Brennan, Eoin P EP; Choi, Murim M; Eriksson, Per P; Folkersen, Lasse L; Franco-Cereceda, Anders A; Gharavi, Ali G AG; Hedman, Åsa K ÅK; Hivert, Marie-France MF; Huang, Jinyan J; Kanoni, Stavroula S; Karpe, Fredrik F; Keildson, Sarah S; Kiryluk, Krzysztof K; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McKnight, Amy J AJ; McPherson, Ruth R; Metspalu, Andres A; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Olsson, Christian C; Perry, John Rb JR; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Schadt, Eric E EE; Scott, Robert A RA; Stolk, Lisette L; Vallejo, Edgar E EE; Westra, Harm-Jan HJ; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Amouyel, Philippe P; Arveiler, Dominique D; Bakker, Stephan Jl SJ; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Brown, Morris J MJ; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chines, Peter S PS; Claudi-Boehm, Simone S; Collins, Francis S FS; Crawford, Dana C DC; Danesh, John J; de Faire, Ulf U; de Geus, Eco Jc EJ; Dörr, Marcus M; Erbel, Raimund R; Eriksson, Johan G JG; Farrall, Martin M; Ferrannini, Ele E; Ferrières, Jean J; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gieger, Christian C; Gudnason, Vilmundur V; Haiman, Christopher A CA; Harris, Tamara B TB; Hattersley, Andrew T AT; Heliövaara, Markku M; Hicks, Andrew A AA; Hingorani, Aroon D AD; Hoffmann, Wolfgang W; Hofman, Albert A; Homuth, Georg G; Humphries, Steve E SE; Hyppönen, Elina E; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Johansen, Berit B; Jousilahti, Pekka P; Jula, Antti M AM; Kaprio, Jaakko J; Kee, Frank F; Keinanen-Kiukaanniemi, Sirkka M SM; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Lakka, Timo A TA; Langenberg, Claudia C; Le Marchand, Loic L; Lehtimäki, Terho T; Lyssenko, Valeriya V; Männistö, Satu S; Marette, André A; Matise, Tara C TC; McKenzie, Colin A CA; McKnight, Barbara B; Musk, Arthur W AW; Möhlenkamp, Stefan S; Morris, Andrew D AD; Nelis, Mari M; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Palmer, Lyle J LJ; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Ridker, Paul M PM; Ritchie, Marylyn D MD; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Saramies, Jouko J; Sarzynski, Mark A MA; Schwarz, Peter Eh PE; Shuldiner, Alan R AR; Staessen, Jan A JA; Steinthorsdottir, Valgerdur V; Stolk, Ronald P RP; Strauch, Konstantin K; Tönjes, Anke A; Tremblay, Angelo A; Tremoli, Elena E; Vohl, Marie-Claude MC; Völker, Uwe U; Vollenweider, Peter P; Wilson, James F JF; Witteman, Jacqueline C JC; Adair, Linda S LS; Bochud, Murielle M; Boehm, Bernhard O BO; Bornstein, Stefan R SR; Bouchard, Claude C; Cauchi, Stéphane S; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Cooper, Richard S RS; Dedoussis, George G; Ferrucci, Luigi L; Froguel, Philippe P; Grabe, Hans-Jörgen HJ; Hamsten, Anders A; Hui, Jennie J; Hveem, Kristian K; Jöckel, Karl-Heinz KH; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; März, Winfried W; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin Na CN; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sinisalo, Juha J; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Veronesi, Giovanni G; Walker, Mark M; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Berndt, Sonja I SI; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Franke, Lude L; Frayling, Timothy M TM; Groop, Leif C LC; Hunter, David J DJ; Kaplan, Robert C RC; O'Connell, Jeffrey R JR; Qi, Lu L; Schlessinger, David D; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Willer, Cristen J CJ; Visscher, Peter M PM; Yang, Jian J; Hirschhorn, Joel N JN; Zillikens, M Carola MC; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Fox, Caroline S CS; Barroso, Inês I; Franks, Paul W PW; Ingelsson, Erik E; Heid, Iris M IM; Loos, Ruth Jf RJ; Cupples, L Adrienne LA; Morris, Andrew P AP; Lindgren, Cecilia M CM; Mohlke, Karen L KL

Publication Date: 2015-02-12

Variant appearance in text: NTAN1: S287P; rs1135999

PubMed Link: 25673412

Variant Present in the following documents:

• Main text
• emss-61357.pdf
• NIHMS61357-supplement-2.pdf

View BVdb publication page

---

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: NTAN1: S287P; rs1135999

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs1135999

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 3
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 8

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: NTAN1: S287P

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3

View BVdb publication page

---

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: rs1135999

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

---