Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: FZD3: L145L; rs2241802

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: FZD3: L145L; rs2241802

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: FZD3: L145L; rs2241802

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Molecular Genetics & Genomic Medicine

Liu, Yan Y; Dong, Liang L; Zhi, Xiufang X; Liu, Yang Y; Zhao, Linsheng L; Xu, Xiaowei X; Wang, Lu L; Zheng, Jie J; Pu, Linjie L; Gu, Chunyu C; Shu, Jianbo J; Cai, Chunquan C

Publication Date: 2022-11-15

Variant appearance in text: FZD3: 435A>G

PubMed Link: 36378568

Variant Present in the following documents:

• Main text
• MGG3-11-e2094.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FZD3: L145L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: FZD3: L145L

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.

Human Genomics

Wu, Wenman W; Zhou, Xuanyou X; Jiang, Zhengwen Z; Zhang, Dazhi D; Yu, Feng F; Zhang, Lanlan L; Wang, Xuefeng X; Chen, Songchang S; Xu, Chenming C

Publication Date: 2022-07-27

Variant appearance in text: rs2241802

PubMed Link: 35897115

Variant Present in the following documents:

• 40246_2022_400_MOESM1_ESM.xlsx, sheet 1

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: FZD3: 435A>G; L145L; rs2241802

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2241802

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A multimodal attempt to follow-up linkage regions using RNA expression, SNPs and CpG methylation in schizophrenia and bipolar disorder kindreds.

European Journal Of Human Genetics : Ejhg

Chagnon, Yvon C YC; Maziade, Michel M; Paccalet, Thomas T; Croteau, Jordie J; Fournier, Alain A; Roy, Marc-André MA; Bureau, Alexandre A

Publication Date: 2020-04

Variant appearance in text: rs2241802

PubMed Link: 31695175

Variant Present in the following documents:

• Main text

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: FZD3: L145L; rs2241802

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_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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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: rs2241802

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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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: FZD3: 435A>G; rs2241802

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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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: FZD3: L145L; rs2241802

PubMed Link: 29221171

Variant Present in the following documents:

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

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: rs2241802

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: FZD3: L145L; rs2241802

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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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: FZD3: L145L; rs2241802

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

Plos Genetics

Wolf, Zena T ZT; Brand, Harrison A HA; Shaffer, John R JR; Leslie, Elizabeth J EJ; Arzi, Boaz B; Willet, Cali E CE; Cox, Timothy C TC; McHenry, Toby T; Narayan, Nicole N; Feingold, Eleanor E; Wang, Xioajing X; Sliskovic, Saundra S; Karmi, Nili N; Safra, Noa N; Sanchez, Carla C; Deleyiannis, Frederic W B FW; Murray, Jeffrey C JC; Wade, Claire M CM; Marazita, Mary L ML; Bannasch, Danika L DL

Publication Date: 2015-03

Variant appearance in text: rs2241802

PubMed Link: 25798845

Variant Present in the following documents:

• Main text
• pgen.1005059.pdf

View BVdb publication page

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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: FZD3: L145L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: FZD3: L145L; rs2241802

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Neurodevelopment in schizophrenia: the role of the wnt pathways.

Current Neuropharmacology

Panaccione, Isabella I; Napoletano, Flavia F; Forte, Alberto Maria AM; Kotzalidis, Giorgio D GD; Del Casale, Antonio A; Rapinesi, Chiara C; Brugnoli, Chiara C; Serata, Daniele D; Caccia, Federica F; Cuomo, Ilaria I; Ambrosi, Elisa E; Simonetti, Alessio A; Savoja, Valeria V; De Chiara, Lavinia L; Danese, Emanuela E; Manfredi, Giovanni G; Janiri, Delfina D; Motolese, Marta M; Nicoletti, Ferdinando F; Girardi, Paolo P; Sani, Gabriele G

Publication Date: 2013-09

Variant appearance in text: rs2241802

PubMed Link: 24403877

Variant Present in the following documents:

• Main text
• CN-11-535.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: FZD3: L145L; rs2241802

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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The wnt pathway in mood disorders.

Current Neuropharmacology

Sani, Gabriele G; Napoletano, Flavia F; Forte, Alberto Maria AM; Kotzalidis, Giorgio D GD; Panaccione, Isabella I; Porfiri, Giulio Maria GM; Simonetti, Alessio A; Caloro, Matteo M; Girardi, Nicoletta N; Telesforo, Carla Ludovica CL; Serra, Giulia G; Romano, Silvia S; Manfredi, Giovanni G; Savoja, Valeria V; Tamorri, Stefano Maria SM; Koukopoulos, Alexia E AE; Serata, Daniele D; Rapinesi, Chiara C; Del Casale, Antonio A; Nicoletti, Ferdinando F; Girardi, Paolo P

Publication Date: 2012-09

Variant appearance in text: rs2241802

PubMed Link: 23449817

Variant Present in the following documents:

• Main text
• CN-10-239.pdf

View BVdb publication page

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Genetic factors modulating the response to stimulant drugs in humans.

Current Topics In Behavioral Neurosciences

Hart, Amy B AB; de Wit, Harriet H; Palmer, Abraham A AA

Publication Date: 2012

Variant appearance in text: rs2241802

PubMed Link: 22261702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Methamphetamine-associated psychosis.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology

Grant, Kathleen M KM; LeVan, Tricia D TD; Wells, Sandra M SM; Li, Ming M; Stoltenberg, Scott F SF; Gendelman, Howard E HE; Carlo, Gustavo G; Bevins, Rick A RA

Publication Date: 2012-03

Variant appearance in text: rs2241802

PubMed Link: 21728034

Variant Present in the following documents:

• Main text
• 11481_2011_Article_9288.pdf

View BVdb publication page

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Selected summaries from the XVI World Congress of Psychiatric Genetics, Osaka, Japan, 11-15 October 2008.

Psychiatric Genetics

Bergen, Sarah S; Chen, Jingchun J; Dagdan, Elif E; Foon, Tee Shiau TS; Goes, Fernando S FS; Houlihan, Lorna M LM; Kloiber, Stefan S; Kumar, Ravinesh A RA; Kuzman, Martina Rojnic MR; Menke, Andreas A; Pedroso, Inti I; Videtic, Alja A; Villafuerte, Sandra S; DeLisi, Lynn E LE

Publication Date: 2009-10

Variant appearance in text: rs2241802

PubMed Link: 19661838

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Frizzled 3 gene is associated with methamphetamine psychosis in the Japanese population.

Behavioral And Brain Functions : Bbf

Kishimoto, Makiko M; Ujike, Hiroshi H; Okahisa, Yuko Y; Kotaka, Tatsuya T; Takaki, Manabu M; Kodama, Masafumi M; Inada, Toshiya T; Yamada, Mitsuhiko M; Uchimura, Naohisa N; Iwata, Nakao N; Sora, Ichiro I; Iyo, Masaomi M; Ozaki, Norio N; Kuroda, Shigetoshi S

Publication Date: 2008-08-15

Variant appearance in text: rs2241802

PubMed Link: 18702828

Variant Present in the following documents:

• Main text
• 1744-9081-4-37.pdf

View BVdb publication page

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A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.

American Journal Of Medical Genetics. Part A

Riley, B M BM; Schultz, R E RE; Cooper, M E ME; Goldstein-McHenry, T T; Daack-Hirsch, S S; Lee, K T KT; Dragan, E E; Vieira, A R AR; Lidral, A C AC; Marazita, M L ML; Murray, J C JC

Publication Date: 2007-04-15

Variant appearance in text: rs2241802

PubMed Link: 17366557

Variant Present in the following documents:

• Main text

View BVdb publication page

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