Publications:

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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: rs2245425

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: TOR1AIP1: 554-4G>A; rs2245425

PubMed Link: 36582804

Variant Present in the following documents:

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

View BVdb publication page

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

Ejhaem

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

Publication Date: 2022-11

Variant appearance in text: rs2245425

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force.

Nature Communications

Wang, Qingbo S QS; Edahiro, Ryuya R; Namkoong, Ho H; Hasegawa, Takanori T; Shirai, Yuya Y; Sonehara, Kyuto K; Tanaka, Hiromu H; Lee, Ho H; Saiki, Ryunosuke R; Hyugaji, Takayoshi T; Shimizu, Eigo E; Katayama, Kotoe K; Kanai, Masahiro M; Naito, Tatsuhiko T; Sasa, Noah N; Yamamoto, Kenichi K; Kato, Yasuhiro Y; Morita, Takayoshi T; Takahashi, Kazuhisa K; Harada, Norihiro N; Naito, Toshio T; Hiki, Makoto M; Matsushita, Yasushi Y; Takagi, Haruhi H; Ichikawa, Masako M; Nakamura, Ai A; Harada, Sonoko S; Sandhu, Yuuki Y; Kabata, Hiroki H; Masaki, Katsunori K; Kamata, Hirofumi H; Ikemura, Shinnosuke S; Chubachi, Shotaro S; Okamori, Satoshi S; Terai, Hideki H; Morita, Atsuho A; Asakura, Takanori T; Sasaki, Junichi J; Morisaki, Hiroshi H; Uwamino, Yoshifumi Y; Nanki, Kosaku K; Uchida, Sho S; Uno, Shunsuke S; Nishimura, Tomoyasu T; Ishiguro, Takashri T; Isono, Taisuke T; Shibata, Shun S; Matsui, Yuma Y; Hosoda, Chiaki C; Takano, Kenji K; Nishida, Takashi T; Kobayashi, Yoichi Y; Takaku, Yotaro Y; Takayanagi, Noboru N; Ueda, Soichiro S; Tada, Ai A; Miyawaki, Masayoshi M; Yamamoto, Masaomi M; Yoshida, Eriko E; Hayashi, Reina R; Nagasaka, Tomoki T; Arai, Sawako S; Kaneko, Yutaro Y; Sasaki, Kana K; Tagaya, Etsuko E; Kawana, Masatoshi M; Arimura, Ken K; Takahashi, Kunihiko K; Anzai, Tatsuhiko T; Ito, Satoshi S; Endo, Akifumi A; Uchimura, Yuji Y; Miyazaki, Yasunari Y; Honda, Takayuki T; Tateishi, Tomoya T; Tohda, Shuji S; Ichimura, Naoya N; Sonobe, Kazunari K; Sassa, Chihiro Tani CT; Nakajima, Jun J; Nakano, Yasushi Y; Nakajima, Yukiko Y; Anan, Ryusuke R; Arai, Ryosuke R; Kurihara, Yuko Y; Harada, Yuko Y; Nishio, Kazumi K; Ueda, Tetsuya T; Azuma, Masanori M; Saito, Ryuichi R; Sado, Toshikatsu T; Miyazaki, Yoshimune Y; Sato, Ryuichi R; Haruta, Yuki Y; Nagasaki, Tadao T; Yasui, Yoshinori Y; Hasegawa, Yoshinori Y; Mutoh, Yoshikazu Y; Kimura, Tomoki T; Sato, Tomonori T; Takei, Reoto R; Hagimoto, Satoshi S; Noguchi, Yoichiro Y; Yamano, Yasuhiko Y; Sasano, Hajime H; Ota, Sho S; Nakamori, Yasushi Y; Yoshiya, Kazuhisa K; Saito, Fukuki F; Yoshihara, Tomoyuki T; Wada, Daiki D; Iwamura, Hiromu H; Kanayama, Syuji S; Maruyama, Shuhei S; Yoshiyama, Takashi T; Ohta, Ken K; Kokuto, Hiroyuki H; Ogata, Hideo H; Tanaka, Yoshiaki Y; Arakawa, Kenichi K; Shimoda, Masafumi M; Osawa, Takeshi T; Tateno, Hiroki H; Hase, Isano I; Yoshida, Shuichi S; Suzuki, Shoji S; Kawada, Miki M; Horinouchi, Hirohisa H; Saito, Fumitake F; Mitamura, Keiko K; Hagihara, Masao M; Ochi, Junichi J; Uchida, Tomoyuki T; Baba, Rie R; Arai, Daisuke D; Ogura, Takayuki T; Takahashi, Hidenori H; Hagiwara, Shigehiro S; Nagao, Genta G; Konishi, Shunichiro S; Nakachi, Ichiro I; Murakami, Koji K; Yamada, Mitsuhiro M; Sugiura, Hisatoshi H; Sano, Hirohito H; Matsumoto, Shuichiro S; Kimura, Nozomu N; Ono, Yoshinao Y; Baba, Hiroaki H; Suzuki, Yusuke Y; Nakayama, Sohei S; Masuzawa, Keita K; Namba, Shinichi S; Shiroyama, Takayuki T; Noda, Yoshimi Y; Niitsu, Takayuki T; Adachi, Yuichi Y; Enomoto, Takatoshi T; Amiya, Saori S; Hara, Reina R; Yamaguchi, Yuta Y; Murakami, Teruaki T; Kuge, Tomoki T; Matsumoto, Kinnosuke K; Yamamoto, Yuji Y; Yamamoto, Makoto M; Yoneda, Midori M; Tomono, Kazunori K; Kato, Kazuto K; Hirata, Haruhiko H; Takeda, Yoshito Y; Koh, Hidefumi H; Manabe, Tadashi T; Funatsu, Yohei Y; Ito, Fumimaro F; Fukui, Takahiro T; Shinozuka, Keisuke K; Kohashi, Sumiko S; Miyazaki, Masatoshi M; Shoko, Tomohisa T; Kojima, Mitsuaki M; Adachi, Tomohiro T; Ishikawa, Motonao M; Takahashi, Kenichiro K; Inoue, Takashi T; Hirano, Toshiyuki T; Kobayashi, Keigo K; Takaoka, Hatsuyo H; Watanabe, Kazuyoshi K; Miyazawa, Naoki N; Kimura, Yasuhiro Y; Sado, Reiko R; Sugimoto, Hideyasu H; Kamiya, Akane A; Kuwahara, Naota N; Fujiwara, Akiko A; Matsunaga, Tomohiro T; Sato, Yoko Y; Okada, Takenori T; Hirai, Yoshihiro Y; Kawashima, Hidetoshi H; Narita, Atsuya A; Niwa, Kazuki K; Sekikawa, Yoshiyuki Y; Nishi, Koichi K; Nishitsuji, Masaru M; Tani, Mayuko M; Suzuki, Junya J; Nakatsumi, Hiroki H; Ogura, Takashi T; Kitamura, Hideya H; Hagiwara, Eri E; Murohashi, Kota K; Okabayashi, Hiroko H; Mochimaru, Takao T; Nukaga, Shigenari S; Satomi, Ryosuke R; Oyamada, Yoshitaka Y; Mori, Nobuaki N; Baba, Tomoya T; Fukui, Yasutaka Y; Odate, Mitsuru M; Mashimo, Shuko S; Makino, Yasushi Y; Yagi, Kazuma K; Hashiguchi, Mizuha M; Kagyo, Junko J; Shiomi, Tetsuya T; Fuke, Satoshi S; Saito, Hiroshi H; Tsuchida, Tomoya T; Fujitani, Shigeki S; Takita, Mumon M; Morikawa, Daiki D; Yoshida, Toru T; Izumo, Takehiro T; Inomata, Minoru M; Kuse, Naoyuki N; Awano, Nobuyasu N; Tone, Mari M; Ito, Akihiro A; Nakamura, Yoshihiko Y; Hoshino, Kota K; Maruyama, Junichi J; Ishikura, Hiroyasu H; Takata, Tohru T; Odani, Toshio T; Amishima, Masaru M; Hattori, Takeshi T; Shichinohe, Yasuo Y; Kagaya, Takashi T; Kita, Toshiyuki T; Ohta, Kazuhide K; Sakagami, Satoru S; Koshida, Kiyoshi K; Hayashi, Kentaro K; Shimizu, Tetsuo T; Kozu, Yutaka Y; Hiranuma, Hisato H; Gon, Yasuhiro Y; Izumi, Namiki N; Nagata, Kaoru K; Ueda, Ken K; Taki, Reiko R; Hanada, Satoko S; Kawamura, Kodai K; Ichikado, Kazuya K; Nishiyama, Kenta K; Muranaka, Hiroyuki H; Nakamura, Kazunori K; Hashimoto, Naozumi N; Wakahara, Keiko K; Koji, Sakamoto S; Omote, Norihito N; Ando, Akira A; Kodama, Nobuhiro N; Kaneyama, Yasunari Y; Maeda, Shunsuke S; Kuraki, Takashige T; Matsumoto, Takemasa T; Yokote, Koutaro K; Nakada, Taka-Aki TA; Abe, Ryuzo R; Oshima, Taku T; Shimada, Tadanaga T; Harada, Masahiro M; Takahashi, Takeshi T; Ono, Hiroshi H; Sakurai, Toshihiro T; Shibusawa, Takayuki T; Kimizuka, Yoshifumi Y; Kawana, Akihiko A; Sano, Tomoya T; Watanabe, Chie C; Suematsu, Ryohei R; Sageshima, Hisako H; Yoshifuji, Ayumi A; Ito, Kazuto K; Takahashi, Saeko S; Ishioka, Kota K; Nakamura, Morio M; Masuda, Makoto M; Wakabayashi, Aya A; Watanabe, Hiroki H; Ueda, Suguru S; Nishikawa, Masanori M; Chihara, Yusuke Y; Takeuchi, Mayumi M; Onoi, Keisuke K; Shinozuka, Jun J; Sueyoshi, Atsushi A; Nagasaki, Yoji Y; Okamoto, Masaki M; Ishihara, Sayoko S; Shimo, Masatoshi M; Tokunaga, Yoshihisa Y; Kusaka, Yu Y; Ohba, Takehiko T; Isogai, Susumu S; Ogawa, Aki A; Inoue, Takuya T; Fukuyama, Satoru S; Eriguchi, Yoshihiro Y; Yonekawa, Akiko A; Kan-O, Keiko K; Matsumoto, Koichiro K; Kanaoka, Kensuke K; Ihara, Shoichi S; Komuta, Kiyoshi K; Inoue, Yoshiaki Y; Chiba, Shigeru S; Yamagata, Kunihiro K; Hiramatsu, Yuji Y; Kai, Hirayasu H; Asano, Koichiro K; Oguma, Tsuyoshi T; Ito, Yoko Y; Hashimoto, Satoru S; Yamasaki, Masaki M; Kasamatsu, Yu Y; Komase, Yuko Y; Hida, Naoya N; Tsuburai, Takahiro T; Oyama, Baku B; Takada, Minoru M; Kanda, Hidenori H; Kitagawa, Yuichiro Y; Fukuta, Tetsuya T; Miyake, Takahito T; Yoshida, Shozo S; Ogura, Shinji S; Abe, Shinji S; Kono, Yuta Y; Togashi, Yuki Y; Takoi, Hiroyuki H; Kikuchi, Ryota R; Ogawa, Shinichi S; Ogata, Tomouki T; Ishihara, Shoichiro S; Kanehiro, Arihiko A; Ozaki, Shinji S; Fuchimoto, Yasuko Y; Wada, Sae S; Fujimoto, Nobukazu N; Nishiyama, Kei K; Terashima, Mariko M; Beppu, Satoru S; Yoshida, Kosuke K; Narumoto, Osamu O; Nagai, Hideaki H; Ooshima, Nobuharu N; Motegi, Mitsuru M; Umeda, Akira A; Miyagawa, Kazuya K; Shimada, Hisato H; Endo, Mayu M; Ohira, Yoshiyuki Y; Watanabe, Masafumi M; Inoue, Sumito S; Igarashi, Akira A; Sato, Masamichi M; Sagara, Hironori H; Tanaka, Akihiko A; Ohta, Shin S; Kimura, Tomoyuki T; Shibata, Yoko Y; Tanino, Yoshinori Y; Nikaido, Takefumi T; Minemura, Hiroyuki H; Sato, Yuki Y; Yamada, Yuichiro Y; Hashino, Takuya T; Shinoki, Masato M; Iwagoe, Hajime H; Takahashi, Hiroshi H; Fujii, Kazuhiko K; Kishi, Hiroto H; Kanai, Masayuki M; Imamura, Tomonori T; Yamashita, Tatsuya T; Yatomi, Masakiyo M; Maeno, Toshitaka T; Hayashi, Shinichi S; Takahashi, Mai M; Kuramochi, Mizuki M; Kamimaki, Isamu I; Tominaga, Yoshiteru Y; Ishii, Tomoo T; Utsugi, Mitsuyoshi M; Ono, Akihiro A; Tanaka, Toru T; Kashiwada, Takeru T; Fujita, Kazue K; Saito, Yoshinobu Y; Seike, Masahiro M; Watanabe, Hiroko H; Matsuse, Hiroto H; Kodaka, Norio N; Nakano, Chihiro C; Oshio, Takeshi T; Hirouchi, Takatomo T; Makino, Shohei S; Egi, Moritoki M; Omae, Yosuke Y; Nannya, Yasuhito Y; Ueno, Takafumi T; Takano, Tomomi T; Katayama, Kazuhiko K; Ai, Masumi M; Kumanogoh, Atsushi A; Sato, Toshiro T; Hasegawa, Naoki N; Tokunaga, Katsushi K; Ishii, Makoto M; Koike, Ryuji R; Kitagawa, Yuko Y; Kimura, Akinori A; Imoto, Seiya S; Miyano, Satoru S; Ogawa, Seishi S; Kanai, Takanori T; Fukunaga, Koichi K; Okada, Yukinori Y

Publication Date: 2022-08-22

Variant appearance in text: rs2245425

PubMed Link: 35995775

Variant Present in the following documents:

• Main text
• 41467_2022_Article_32276.pdf
• 41467_2022_32276_MOESM1_ESM.pdf

View BVdb publication page

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Genetic architecture of band neutrophil fraction in Iceland.

Communications Biology

Oskarsson, Gudjon R GR; Magnusson, Magnus K MK; Oddsson, Asmundur A; Jensson, Brynjar O BO; Fridriksdottir, Run R; Arnadottir, Gudny A GA; Katrinardottir, Hildigunnur H; Rognvaldsson, Solvi S; Halldorsson, Gisli H GH; Sveinbjornsson, Gardar G; Ivarsdottir, Erna V EV; Stefansdottir, Lilja L; Ferkingstad, Egil E; Norland, Kristjan K; Tragante, Vinicius V; Saemundsdottir, Jona J; Jonasdottir, Aslaug A; Jonasdottir, Adalbjorg A; Sigurjonsdottir, Svanhvit S; Petursdottir, Karen O KO; Davidsson, Olafur B OB; Rafnar, Thorunn T; Holm, Hilma H; Olafsson, Isleifur I; Onundarson, Pall T PT; Vidarsson, Brynjar B; Sigurdardottir, Olof O; Masson, Gisli G; Gudbjartsson, Daniel F DF; Jonsdottir, Ingileif I; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2022-06-01

Variant appearance in text: rs2245425

PubMed Link: 35650273

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3462.pdf
• 42003_2022_3462_MOESM2_ESM.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: rs2245425

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs2245425

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: rs2245425

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: TOR1AIP1: 554-4G>A; rs2245425

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs2245425

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility.

Cell Discovery

Wang, Fang F; Huang, Shujia S; Gao, Rongsui R; Zhou, Yuwen Y; Lai, Changxiang C; Li, Zhichao Z; Xian, Wenjie W; Qian, Xiaobo X; Li, Zhiyu Z; Huang, Yushan Y; Tang, Qiyuan Q; Liu, Panhong P; Chen, Ruikun R; Liu, Rong R; Li, Xuan X; Tong, Xin X; Zhou, Xuan X; Bai, Yong Y; Duan, Gang G; Zhang, Tao T; Xu, Xun X; Wang, Jian J; Yang, Huanming H; Liu, Siyang S; He, Qing Q; Jin, Xin X; Liu, Lei L

Publication Date: 2020-11-10

Variant appearance in text: rs2245425

PubMed Link: 33298875

Variant Present in the following documents:

• 41421_2020_231_MOESM2_ESM.xlsx, sheet 5
• 41421_2020_231_MOESM2_ESM.xlsx, sheet 4

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: rs2245425

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs2245425

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 20

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: rs2245425

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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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: rs2245425

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50876_MOESM2_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: rs2245425

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_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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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: rs2245425

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_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: rs2245425

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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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: rs2245425

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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

Human Genome Variation

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

Publication Date: 2017

Variant appearance in text: rs2245425

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: rs2245425

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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

Stem Cell Reports

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

Publication Date: 2015-12-08

Variant appearance in text: rs2245425

PubMed Link: 26549847

Variant Present in the following documents:

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

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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: rs2245425

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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Impact of allele-specific peptides in proteome quantification.

Proteomics. Clinical Applications

Wu, Linfeng L; Snyder, Michael M

Publication Date: 2015-04

Variant appearance in text: rs2245425

PubMed Link: 25676416

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: rs2245425

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: rs2245425

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Targeted assembly of short sequence reads.

Plos One

Warren, René L RL; Holt, Robert A RA

Publication Date: 2011-05-11

Variant appearance in text: rs2245425

PubMed Link: 21589938

Variant Present in the following documents:

• Main text
• pone.0019816.pdf

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Wobble splicing reveals the role of the branch point sequence-to-NAGNAG region in 3' tandem splice site selection.

Molecular And Cellular Biology

Tsai, Kuo-Wang KW; Tarn, Woan-Yuh WY; Lin, Wen-Chang WC

Publication Date: 2007-08

Variant appearance in text: rs2245425

PubMed Link: 17562859

Variant Present in the following documents:

• Main text

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Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.

American Journal Of Human Genetics

Hiller, Michael M; Huse, Klaus K; Szafranski, Karol K; Jahn, Niels N; Hampe, Jochen J; Schreiber, Stefan S; Backofen, Rolf R; Platzer, Matthias M

Publication Date: 2006-02

Variant appearance in text: rs2245425

PubMed Link: 16400609

Variant Present in the following documents:

• Main text

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