Publications:

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 36335097

Variant Present in the following documents:

• 41467_2022_34116_MOESM2_ESM.pdf

View BVdb publication page

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Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.

Frontiers In Genetics

Tong, Keya K; He, Wenbin W; He, Yao Y; Li, Xiurong X; Hu, Liang L; Hu, Hao H; Lu, Guangxiu G; Lin, Ge G; Dong, Chang C; Zhang, Victor Wei VW; Du, Juan J; Liu, Dongyun D

Publication Date: 2022

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 36072675

Variant Present in the following documents:

• Main text
• fgene-13-943058.pdf

View BVdb publication page

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Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Dermatology And Therapy

Sugiura, Kazumitsu K

Publication Date: 2022-02

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 35060076

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: IL36RN: 115+6T>C; rs148755083

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
• 43141_2021_Article_268.pdf

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: IL36RN: 115+6T>C; rs148755083

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
• 43141_2021_Article_268.pdf

View BVdb publication page

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Papulosquamous Disorders and Pregnancy.

Cureus

AlBalbeesi, Amal O AO; Qadoumi, Tala A TA

Publication Date: 2021-10

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 34796057

Variant Present in the following documents:

• cureus-0013-00000018762.pdf

View BVdb publication page

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Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Frontiers In Genetics

Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S

Publication Date: 2021

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 34539730

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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An update on genetic basis of generalized pustular psoriasis (Review).

International Journal Of Molecular Medicine

Zhou, Jiahong J; Luo, Qing Q; Cheng, Yang Y; Wen, Xia X; Liu, Jinbo J

Publication Date: 2021-06

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 33955502

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: A PRISMA-compliant systematic review and meta-analysis.

Medicine

Liu, Zhi-Jie ZJ; Tian, Yu-Tong YT; Shi, Bo-Yi BY; Zhou, Yin Y; Jia, Xue-Song XS

Publication Date: 2020-11-06

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 33157966

Variant Present in the following documents:

• Main text
• medi-99-e23068.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: rs148755083

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Recurrent generalized pustular psoriasis possibly triggered by apremilast.

Chinese Medical Journal

Wang, Wen-Ming WM; Shu, Dan D; Jiang, Yan-Yun YY; Jin, Hong-Zhong HZ

Publication Date: 2020-05-20

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 32433065

Variant Present in the following documents:

• Main text
• cm9-133-1259.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: IL36RN: 115+6T>C; rs148755083

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, 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: IL36RN: 115+6T>C; rs148755083

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients.

Anais Brasileiros De Dermatologia

Xiaoling, Yu Y; Dan, Shu S; Hongzhong, Jin J

Publication Date: 2019

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 31789248

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: IL36RN: 115+6T>C; rs148755083

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study.

Medicine

Li, Zhongtao Z; Yang, Qianyi Q; Wang, Sheng S

Publication Date: 2018-08

Variant appearance in text: rs148755083

PubMed Link: 30075588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and genetic differences between pustular psoriasis subtypes.

The Journal Of Allergy And Clinical Immunology

Twelves, Sophie S; Mostafa, Alshimaa A; Dand, Nick N; Burri, Elias E; Farkas, Katalin K; Wilson, Rosemary R; Cooper, Hywel L HL; Irvine, Alan D AD; Oon, Hazel H HH; Kingo, Külli K; Köks, Sulev S; Mrowietz, Ulrich U; Puig, Luis L; Reynolds, Nick N; Tan, Eugene Sern-Ting ES; Tanew, Adrian A; Torz, Kaspar K; Trattner, Hannes H; Valentine, Mark M; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; Bata-Csörgő, Zsuzsa Z; Szell, Marta M; Griffiths, Christopher E M CEM; Burden, A David AD; Choon, Siew-Eng SE; Smith, Catherine H CH; Barker, Jonathan N JN; Navarini, Alexander A AA; Capon, Francesca F

Publication Date: 2019-03

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 30036598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impetigo Herpetiformis: Review of Pathogenesis, Complication, and Treatment.

Dermatology Research And Practice

Namazi, Nastaran N; Dadkhahfar, Sahar S

Publication Date: 2018

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 29849579

Variant Present in the following documents:

• DRP2018-5801280.pdf

View BVdb publication page

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Pustular psoriasis of pregnancy: current perspectives.

International Journal Of Women'S Health

Trivedi, Megha K MK; Vaughn, Alexandra R AR; Murase, Jenny E JE

Publication Date: 2018

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 29520163

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acrodermatitis Continua of Hallopeau with Bone Resorption in an 8-Year-Old Patient: A Case Report.

Case Reports In Dermatology

Alorainy, May M; Alshaya, Mohammed M; Al-Rikabi, Ammar A; Ayesh, Mohammed M; Alsaif, Fahad F

Publication Date: 2017

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 29422844

Variant Present in the following documents:

• Main text
• cde-0009-0259.pdf

View BVdb publication page

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in IL36RN are associated with geographic tongue.

Human Genetics

Liang, Jianying J; Huang, Peichen P; Li, Huaguo H; Zhang, Jia J; Ni, Cheng C; Wang, Yirong Y; Shen, Jinwen J; Li, Chunxiao C; Kang, Lu L; Chen, Jie J; Zhang, Hui H; Wang, Zhen Z; Zhang, Zhen Z; Li, Ming M; Yao, Zhirong Z

Publication Date: 2017-02

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 27900482

Variant Present in the following documents:

• Main text
• 439_2016_Article_1750.pdf

View BVdb publication page

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Gene mutation analysis in a korean patient with early-onset and recalcitrant generalized pustular psoriasis.

Annals Of Dermatology

Song, Hyo Sang HS; Yun, Su Jin SJ; Park, Sun S; Lee, Eun-So ES

Publication Date: 2014-06

Variant appearance in text: IL36RN: 115+6T>C

PubMed Link: 24966656

Variant Present in the following documents:

• Main text

View BVdb publication page

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