Publications:

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A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.

Iranian Journal Of Public Health

Chu, Xin X; Dai, Jie J; Cui, Hengxiang H; Shen, Hailin H; Wu, Qi Q; Zhu, Xiangyang X; Zhu, Baofeng B

Publication Date: 2022-12

Variant appearance in text: NRG1: 113G>A; R38Q; rs3924999

PubMed Link: 36742238

Variant Present in the following documents:

• Main text
• IJPH-51-2817.pdf

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: NRG1: R38Q; rs3924999

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: NRG1: 113G>A; Arg38Gln; rs3924999

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs3924999

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Comparative Analysis of Dopaminergic and Cholinergic Mechanisms of Sensory and Sensorimotor Gating in Healthy Individuals and in Patients With Schizophrenia.

Frontiers In Behavioral Neuroscience

Proshin, Andrey T AT

Publication Date: 2022

Variant appearance in text: NRG1: Arg38Gln

PubMed Link: 35846783

Variant Present in the following documents:

• fnbeh-16-887312.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: NRG1: 113G>A; Arg38Gln

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Association of genetic polymorphisms with psychological symptoms in cancer: A systematic review.

Asia-Pacific Journal Of Oncology Nursing

Chair, Sek Ying SY; Law, Bernard M H BMH; Chan, Judy Y W JYW; So, Winnie K W WKW; Waye, Mary M Y MMY

Publication Date: 2022-01

Variant appearance in text: rs3924999

PubMed Link: 35528795

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: NRG1: 113G>A; rs3924999

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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

Frontiers In Oncology

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

Publication Date: 2021

Variant appearance in text: NRG1: R38Q

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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

Molecular & Cellular Proteomics : Mcp

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

Publication Date: 2021-10-19

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 34673281

Variant Present in the following documents:

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

View BVdb publication page

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

Molecular & Cellular Proteomics : Mcp

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

Publication Date: 2021

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 34673281

Variant Present in the following documents:

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

View BVdb publication page

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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: NRG1: 113G>A; rs3924999

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: NRG1: 113G>A; Arg38Gln; rs3924999

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM5_ESM.xlsx, sheet 2
• 42003_2021_1959_MOESM10_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: NRG1: Arg38Gln; rs3924999

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: NRG1: 113G>A; R38Q; rs3924999

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs3924999

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 22
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 23

View BVdb publication page

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NRG1, PIP4K2A, and HTR2C as Potential Candidate Biomarker Genes for Several Clinical Subphenotypes of Depression and Bipolar Disorder.

Frontiers In Genetics

Levchenko, Anastasia A; Vyalova, Natalia M NM; Nurgaliev, Timur T; Pozhidaev, Ivan V IV; Simutkin, German G GG; Bokhan, Nikolay A NA; Ivanova, Svetlana A SA

Publication Date: 2020

Variant appearance in text: rs3924999

PubMed Link: 33193575

Variant Present in the following documents:

• Main text
• fgene-11-00936.pdf

View BVdb publication page

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Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease.

The International Journal Of Neuropsychopharmacology

Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V

Publication Date: 2020-11-26

Variant appearance in text: rs3924999

PubMed Link: 32710539

Variant Present in the following documents:

• Main text
• pyaa028.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: NRG1: R38Q; rs3924999

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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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: NRG1: 113G>A; rs3924999

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Protein-protein interactions underlying the behavioral and psychological symptoms of dementia (BPSD) and Alzheimer's disease.

Plos One

Mao, Yimin Y; Fisher, Daniel W DW; Yang, Shuxing S; Keszycki, Rachel M RM; Dong, Hongxin H

Publication Date: 2020

Variant appearance in text: rs3924999

PubMed Link: 31951614

Variant Present in the following documents:

• pone.0226021.s001.xlsx, sheet 1

View BVdb publication page

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Genetic variation in NRG 1 gene and risk of post-traumatic stress disorders in patients with hepatocellular carcinoma.

Journal Of Clinical Laboratory Analysis

Luo, Liumei L; Li, Li L; Guo, Min M; Chen, Xi X; Lin, Yuzhu Y; Wu, Dingyin D

Publication Date: 2020-05

Variant appearance in text: rs3924999

PubMed Link: 31944381

Variant Present in the following documents:

• Main text
• JCLA-34-e23187.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: NRG1: R38Q

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications

Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T

Publication Date: 2019-08-09

Variant appearance in text: NRG1: 113G>A; Arg38Gln; rs3924999

PubMed Link: 31399568

Variant Present in the following documents:

• 41467_2019_11496_MOESM4_ESM.xlsx, sheet 3
• 41467_2019_11496_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Clinical-Pharmacogenetic Predictive Models for Time to Occurrence of Levodopa Related Motor Complications in Parkinson's Disease.

Frontiers In Genetics

Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V

Publication Date: 2019

Variant appearance in text: rs3924999

PubMed Link: 31156712

Variant Present in the following documents:

• Main text
• fgene-10-00461.pdf

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: NRG1: R38Q; rs3924999

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3924999

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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: NRG1: R38Q; rs3924999

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: NRG1: R38Q

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: NRG1: 113G>A; Arg38Gln

PubMed Link: 30319441

Variant Present in the following documents:

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

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: rs3924999

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 6
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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

Genome Research

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

Publication Date: 2018-04

Variant appearance in text: NRG1: R38Q; rs3924999

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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Prediction Analysis for Transition to Schizophrenia in Individuals at Clinical High Risk for Psychosis: The Relationship of DAO, DAOA, and NRG1 Variants with Negative Symptoms and Cognitive Deficits.

Frontiers In Psychiatry

Jagannath, Vinita V; Theodoridou, Anastasia A; Gerstenberg, Miriam M; Franscini, Maurizia M; Heekeren, Karsten K; Correll, Christoph U CU; Rössler, Wulf W; Grünblatt, Edna E; Walitza, Susanne S

Publication Date: 2017

Variant appearance in text: rs3924999

PubMed Link: 29326614

Variant Present in the following documents:

• Main text

View BVdb publication page

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Elevated peripheral expression of neuregulin-1 (NRG1) mRNA isoforms in clozapine-treated schizophrenia patients.

Translational Psychiatry

Mostaid, Md Shaki MS; Lee, Ting Ting TT; Chana, Gursharan G; Sundram, Suresh S; Shannon Weickert, Cynthia C; Pantelis, Christos C; Everall, Ian I; Bousman, Chad C

Publication Date: 2017-12-11

Variant appearance in text: rs3924999

PubMed Link: 29225331

Variant Present in the following documents:

• Main text
• 41398_2017_Article_41.pdf

View BVdb publication page

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BACE1-Dependent Neuregulin-1 Signaling: An Implication for Schizophrenia.

Frontiers In Molecular Neuroscience

Zhang, Zhengrong Z; Huang, Jing J; Shen, Yong Y; Li, Rena R

Publication Date: 2017

Variant appearance in text: rs3924999

PubMed Link: 28993723

Variant Present in the following documents:

• Main text
• fnmol-10-00302.pdf

View BVdb publication page

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Attempts to replicate genetic associations with schizophrenia in a cohort from north India.

Npj Schizophrenia

Prasad, Suman S; Bhatia, Triptish T; Kukshal, Prachi P; Nimgaonkar, Vishwajit L VL; Deshpande, Smita N SN; Thelma, B K BK

Publication Date: 2017-08-30

Variant appearance in text: rs3924999

PubMed Link: 28855605

Variant Present in the following documents:

• Main text
• 41537_2017_Article_30.pdf

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: rs3924999

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Specialized Information Processing Deficits and Distinct Metabolomic Profiles Following TM-Domain Disruption of Nrg1.

Schizophrenia Bulletin

O'Tuathaigh, Colm M P CMP; Mathur, Naina N; O'Callaghan, Matthew J MJ; MacIntyre, Lynsey L; Harvey, Richard R; Lai, Donna D; Waddington, John L JL; Pickard, Benjamin S BS; Watson, David G DG; Moran, Paula M PM

Publication Date: 2017-09-01

Variant appearance in text: rs3924999

PubMed Link: 28338897

Variant Present in the following documents:

• Main text

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: NRG1: 113G>A; R38Q

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Meta-analysis reveals associations between genetic variation in the 5' and 3' regions of Neuregulin-1 and schizophrenia.

Translational Psychiatry

Mostaid, M S MS; Mancuso, S G SG; Liu, C C; Sundram, S S; Pantelis, C C; Everall, I P IP; Bousman, C A CA

Publication Date: 2017-01-17

Variant appearance in text: rs3924999

PubMed Link: 28094814

Variant Present in the following documents:

• Main text
• tp2016279a.pdf

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Genetics of psychosis of Alzheimer disease.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Shah, Chintan C; DeMichele-Sweet, Mary Ann A MA; Sweet, Robert A RA

Publication Date: 2017-01

Variant appearance in text: rs3924999

PubMed Link: 26756273

Variant Present in the following documents:

• Main text

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Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.

American Journal Of Human Genetics

Deschamps, Matthieu M; Laval, Guillaume G; Fagny, Maud M; Itan, Yuval Y; Abel, Laurent L; Casanova, Jean-Laurent JL; Patin, Etienne E; Quintana-Murci, Lluis L

Publication Date: 2016-01-07

Variant appearance in text: rs3924999

PubMed Link: 26748513

Variant Present in the following documents:

• Main text

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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: rs3924999

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.

Schizophrenia Research

Greenwood, Tiffany A TA; Lazzeroni, Laura C LC; Calkins, Monica E ME; Freedman, Robert R; Green, Michael F MF; Gur, Raquel E RE; Gur, Ruben C RC; Light, Gregory A GA; Nuechterlein, Keith H KH; Olincy, Ann A; Radant, Allen D AD; Seidman, Larry J LJ; Siever, Larry J LJ; Silverman, Jeremy M JM; Stone, William S WS; Sugar, Catherine A CA; Swerdlow, Neal R NR; Tsuang, Debby W DW; Tsuang, Ming T MT; Turetsky, Bruce I BI; Braff, David L DL

Publication Date: 2016-01

Variant appearance in text: NRG1: Arg38Gln

PubMed Link: 26597662

Variant Present in the following documents:

• Main text

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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: NRG1: R38Q; rs3924999

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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Hierarchical Classes Analysis (HICLAS): A novel data reduction method to examine associations between biallelic SNPs and perceptual organization phenotypes in schizophrenia.

Schizophrenia Research. Cognition

Joseph, Jamie J; Gara, Michael A MA; Silverstein, Steven M SM

Publication Date: 2015-06-01

Variant appearance in text: rs3924999

PubMed Link: 26346124

Variant Present in the following documents:

• Main text
• main.pdf

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