Publications:

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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Journal Of Clinical Immunology

Frémond, Marie-Louise ML; Hully, Marie M; Fournier, Benjamin B; Barrois, Rémi R; Lévy, Romain R; Aubart, Mélodie M; Castelle, Martin M; Chabalier, Delphine D; Gins, Clarisse C; Sarda, Eugénie E; Al Adba, Buthaina B; Couderc, Sophie S; D' Almeida, Céline C; Berat, Claire-Marine CM; Durrleman, Chloé C; Espil, Caroline C; Lambert, Laetitia L; Méni, Cécile C; Périvier, Maximilien M; Pillet, Pascal P; Polivka, Laura L; Schiff, Manuel M; Todosi, Calina C; Uettwiller, Florence F; Lepelley, Alice A; Rice, Gillian I GI; Seabra, Luis L; Sanquer, Sylvia S; Hulin, Anne A; Pressiat, Claire C; Goldwirt, Lauriane L; Bondet, Vincent V; Duffy, Darragh D; Moshous, Despina D; Bader-Meunier, Brigitte B; Bodemer, Christine C; Robin-Renaldo, Florence F; Boddaert, Nathalie N; Blanche, Stéphane S; Desguerre, Isabelle I; Crow, Yanick J YJ; Neven, Bénédicte B

Publication Date: 2023-05-12

Variant appearance in text: ADAR1: Pro193Ala

PubMed Link: 37171742

Variant Present in the following documents:

• Main text
• 10875_2023_Article_1500.pdf

View BVdb publication page

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The ADAR1 editome reveals drivers of editing-specificity for ADAR1-isoforms.

Nucleic Acids Research

Kleinova, Renata R; Rajendra, Vinod V; Leuchtenberger, Alina F AF; Lo Giudice, Claudio C; Vesely, Cornelia C; Kapoor, Utkarsh U; Tanzer, Andrea A; Derdak, Sophia S; Picardi, Ernesto E; Jantsch, Michael F MF

Publication Date: 2023-04-07

Variant appearance in text: ADAR1: P193A

PubMed Link: 37026479

Variant Present in the following documents:

• Main text
• gkad265.pdf

View BVdb publication page

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Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.

Frontiers In Endocrinology

Dragoni, Francesca F; Garau, Jessica J; Orcesi, Simona S; Varesio, Costanza C; Bordoni, Matteo M; Scarian, Eveljn E; Di Gerlando, Rosalinda R; Fazzi, Elisa E; Battini, Roberta R; Gjurgjaj, Altea A; Rizzo, Bartolo B; Pansarasa, Orietta O; Gagliardi, Stella S

Publication Date: 2023

Variant appearance in text: ADAR1: P193A

PubMed Link: 36998476

Variant Present in the following documents:

• Main text
• fendo-14-1152237.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

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

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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RBP-RNA interactions in the control of autoimmunity and autoinflammation.

Cell Research

Liu, Juan J; Cao, Xuetao X

Publication Date: 2023-01-05

Variant appearance in text: ADAR1: 577C>G

PubMed Link: 36599968

Variant Present in the following documents:

• Main text
• 41422_2022_Article_752.pdf

View BVdb publication page

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Z-nucleic acids: Uncovering the functions from past to present.

European Journal Of Immunology

Tang, Qiannan Q

Publication Date: 2022-11

Variant appearance in text: ADAR1: Pro193Ala

PubMed Link: 36165274

Variant Present in the following documents:

• Main text
• EJI-52-1700.pdf

View BVdb publication page

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ADAR1 averts fatal type I interferon induction by ZBP1.

Nature

Jiao, Huipeng H; Wachsmuth, Laurens L; Wolf, Simone S; Lohmann, Juliane J; Nagata, Masahiro M; Kaya, Göksu Gökberk GG; Oikonomou, Nikos N; Kondylis, Vangelis V; Rogg, Manuel M; Diebold, Martin M; Tröder, Simon E SE; Zevnik, Branko B; Prinz, Marco M; Schell, Christoph C; Young, George R GR; Kassiotis, George G; Pasparakis, Manolis M

Publication Date: 2022-07

Variant appearance in text: ADAR1: P193A

PubMed Link: 35859176

Variant Present in the following documents:

• 41586_2022_4878_MOESM3_ESM.pdf

View BVdb publication page

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Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Frontiers In Pediatrics

Liu, Lingjuan L; Zhang, Lu L; Huang, Peng P; Xiong, Jie J; Xiao, Yangyang Y; Wang, Cheng C; Mao, Dingan D; Liu, Liqun L

Publication Date: 2022

Variant appearance in text: ADAR: 577C>G

PubMed Link: 35832578

Variant Present in the following documents:

• Main text
• fped-10-852903.pdf

View BVdb publication page

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Self or Non-Self? It Is also a Matter of RNA Recognition and Editing by ADAR1.

Biology

Tassinari, Valentina V; Cerboni, Cristina C; Soriani, Alessandra A

Publication Date: 2022-04-08

Variant appearance in text: ADAR1: P193A

PubMed Link: 35453767

Variant Present in the following documents:

• Main text
• biology-11-00568.pdf

View BVdb publication page

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Emerging Roles of lncRNAs Regulating RNA-Mediated Type-I Interferon Signaling Pathway.

Frontiers In Immunology

Ji, Xiaoxin X; Meng, Wei W; Liu, Zichuan Z; Mu, Xin X

Publication Date: 2022

Variant appearance in text: ADAR1: P193A

PubMed Link: 35280983

Variant Present in the following documents:

• Main text
• fimmu-13-811122.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ADAR: P193A; rs145588689

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: ADAR: 577C>G; rs145588689

PubMed Link: 34905135

Variant Present in the following documents:

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

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: ADAR: 577C>G; rs145588689

PubMed Link: 34905135

Variant Present in the following documents:

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

View BVdb publication page

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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Nature Communications

Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ

Publication Date: 2021-11-23

Variant appearance in text: ADAR1: P193A

PubMed Link: 34815418

Variant Present in the following documents:

• 41467_2021_27156_MOESM1_ESM.pdf

View BVdb publication page

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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Nature Communications

Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ

Publication Date: 2021-11-23

Variant appearance in text: ADAR1: P193A

PubMed Link: 34815418

Variant Present in the following documents:

• 41467_2021_27156_MOESM1_ESM.pdf

View BVdb publication page

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Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.

Frontiers In Pediatrics

Cattalini, Marco M; Galli, Jessica J; Zunica, Fiammetta F; Ferraro, Rosalba Monica RM; Carpanelli, Marialuisa M; Orcesi, Simona S; Palumbo, Giovanni G; Pinelli, Lorenzo L; Giliani, Silvia S; Fazzi, Elisa E; Badolato, Raffaele R

Publication Date: 2021

Variant appearance in text: ADAR1: 577C>G

PubMed Link: 34778129

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deciphering the Biological Significance of ADAR1-Z-RNA Interactions.

International Journal Of Molecular Sciences

Nakahama, Taisuke T; Kawahara, Yukio Y

Publication Date: 2021-10-23

Variant appearance in text: ADAR1: P193A

PubMed Link: 34768866

Variant Present in the following documents:

• Main text
• ijms-22-11435.pdf

View BVdb publication page

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The type I interferonopathies: 10 years on.

Nature Reviews. Immunology

Crow, Yanick J YJ; Stetson, Daniel B DB

Publication Date: 2021-10-20

Variant appearance in text: ADAR: Pro193Ala

PubMed Link: 34671122

Variant Present in the following documents:

• Main text
• 41577_2021_Article_633.pdf

View BVdb publication page

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The type I interferonopathies: 10 years on.

Nature Reviews. Immunology

Crow, Yanick J YJ; Stetson, Daniel B DB

Publication Date: 2022-08

Variant appearance in text: ADAR: Pro193Ala

PubMed Link: 34671122

Variant Present in the following documents:

• Main text
• 41577_2021_Article_633.pdf

View BVdb publication page

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Adenosine-to-inosine editing of endogenous Z-form RNA by the deaminase ADAR1 prevents spontaneous MAVS-dependent type I interferon responses.

Immunity

Tang, Qiannan Q; Rigby, Rachel E RE; Young, George R GR; Hvidt, Astrid Korning AK; Davis, Tanja T; Tan, Tiong Kit TK; Bridgeman, Anne A; Townsend, Alain R AR; Kassiotis, George G; Rehwinkel, Jan J

Publication Date: 2021-09-14

Variant appearance in text: ADAR1: Pro193Ala

PubMed Link: 34525337

Variant Present in the following documents:

• Main text
• mmc3.pdf

View BVdb publication page

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Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.

Journal Of Neuroinflammation

Guo, Xinfeng X; Wiley, Clayton A CA; Steinman, Richard A RA; Sheng, Yi Y; Ji, Beihong B; Wang, Junmei J; Zhang, Liyong L; Wang, Tony T; Zenatai, Mazen M; Billiar, Timothy R TR; Wang, Qingde Q

Publication Date: 2021-07-31

Variant appearance in text: ADAR1: P193A

PubMed Link: 34332594

Variant Present in the following documents:

• Main text
• 12974_2021_Article_2217.pdf

View BVdb publication page

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To "Z" or not to "Z": Z-RNA, self-recognition, and the MDA5 helicase.

Plos Genetics

Herbert, Alan A

Publication Date: 2021-05

Variant appearance in text: ADAR1: P193A

PubMed Link: 33983939

Variant Present in the following documents:

• Main text

View BVdb publication page

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Decoupling expression and editing preferences of ADAR1 p150 and p110 isoforms.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Tony T; Yu, Yingpu Y; Wu, Xianfang X; Acevedo, Ashley A; Luo, Ji-Dung JD; Wang, Jiayi J; Schneider, William M WM; Hurwitz, Brian B; Rosenberg, Brad R BR; Chung, Hachung H; Rice, Charles M CM

Publication Date: 2021-03-23

Variant appearance in text: ADAR1: P193A

PubMed Link: 33723056

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adenosine-to-inosine RNA editing in neurological development and disease.

Rna Biology

Yang, Yuxi Y; Okada, Shunpei S; Sakurai, Masayuki M

Publication Date: 2021-07

Variant appearance in text: ADAR: P193A

PubMed Link: 33393416

Variant Present in the following documents:

• Main text

View BVdb publication page

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To protect and modify double-stranded RNA - the critical roles of ADARs in development, immunity and oncogenesis.

Critical Reviews In Biochemistry And Molecular Biology

Erdmann, Emily A EA; Mahapatra, Ananya A; Mukherjee, Priyanka P; Yang, Boyoon B; Hundley, Heather A HA

Publication Date: 2021-02

Variant appearance in text: ADAR: P193A

PubMed Link: 33356612

Variant Present in the following documents:

• Main text

View BVdb publication page

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Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

Pediatric Neurology

Piccoli, Cara C; Bronner, Nowa N; Gavazzi, Francesco F; Dubbs, Holly H; De Simone, Micaela M; De Giorgis, Valentina V; Orcesi, Simona S; Fazzi, Elisa E; Galli, Jessica J; Masnada, Silvia S; Tonduti, Davide D; Varesio, Costanza C; Vanderver, Adeline A; Vossough, Arastoo A; Adang, Laura L

Publication Date: 2021-02

Variant appearance in text: ADAR1: Pro193Ala

PubMed Link: 33307271

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA editing in mesothelioma: a look forward.

Open Biology

Hariharan, Ananya A; Sun, Suna S; Wipplinger, Martin M; Felley-Bosco, Emanuela E

Publication Date: 2020-10

Variant appearance in text: ADAR: Pro193Ala

PubMed Link: 33050791

Variant Present in the following documents:

• Main text
• rsob-10-200112.pdf

View BVdb publication page

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ALU non-B-DNA conformations, flipons, binary codes and evolution.

Royal Society Open Science

Herbert, Alan A

Publication Date: 2020-06

Variant appearance in text: ADAR: P193A

PubMed Link: 32742689

Variant Present in the following documents:

• Main text
• rsos200222.pdf
• rsos200222_review_history.pdf

View BVdb publication page

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What do editors do? Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs.

Open Biology

Heraud-Farlow, Jacki E JE; Walkley, Carl R CR

Publication Date: 2020-07

Variant appearance in text: ADAR: P193A

PubMed Link: 32603639

Variant Present in the following documents:

• Main text
• rsob-10-200085.pdf

View BVdb publication page

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Z-nucleic-acid sensing triggers ZBP1-dependent necroptosis and inflammation.

Nature

Jiao, Huipeng H; Wachsmuth, Laurens L; Kumari, Snehlata S; Schwarzer, Robin R; Lin, Juan J; Eren, Remzi Onur RO; Fisher, Amanda A; Lane, Rebecca R; Young, George R GR; Kassiotis, George G; Kaiser, William J WJ; Pasparakis, Manolis M

Publication Date: 2020-04

Variant appearance in text: ADAR1: P193A

PubMed Link: 32296175

Variant Present in the following documents:

• Main text
• EMS85829.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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: ADAR: 577C>G; Pro193Ala; rs145588689

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Frontiers In Genetics

Graziola, Federica F; Garone, Giacomo G; Stregapede, Fabrizia F; Bosco, Luca L; Vigevano, Federico F; Curatolo, Paolo P; Bertini, Enrico E; Travaglini, Lorena L; Capuano, Alessandro A

Publication Date: 2019

Variant appearance in text: ADAR1: P193A

PubMed Link: 31737037

Variant Present in the following documents:

• Main text

View BVdb publication page

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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Human Mutation

Ngo, Kathie J KJ; Rexach, Jessica E JE; Lee, Hane H; Petty, Lauren E LE; Perlman, Susan S; Valera, Juliana M JM; Deignan, Joshua L JL; Mao, Yuanming Y; Aker, Mamdouh M; Posey, Jennifer E JE; Jhangiani, Shalini N SN; Coban-Akdemir, Zeynep H ZH; Boerwinkle, Eric E; Muzny, Donna D; Nelson, Alexandra B AB; Hassin-Baer, Sharon S; Poke, Gemma G; Neas, Katherine K; Geschwind, Michael D MD; Grody, Wayne W WW; Gibbs, Richard R; Geschwind, Daniel H DH; Lupski, James R JR; Below, Jennifer E JE; Nelson, Stanley F SF; Fogel, Brent L BL

Publication Date: 2020-02

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 31692161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR.

European Journal Of Human Genetics : Ejhg

Herbert, Alan A

Publication Date: 2020-01

Variant appearance in text: ADAR: Pro193Ala; rs145588689

PubMed Link: 31320745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Journal Of Clinical Medicine

Garau, Jessica J; Cavallera, Vanessa V; Valente, Marialuisa M; Tonduti, Davide D; Sproviero, Daisy D; Zucca, Susanna S; Battaglia, Domenica D; Battini, Roberta R; Bertini, Enrico E; Cappanera, Silvia S; Chiapparini, Luisa L; Crasà, Camilla C; Crichiutti, Giovanni G; Dalla Giustina, Elvio E; D'Arrigo, Stefano S; De Giorgis, Valentina V; De Simone, Micaela M; Galli, Jessica J; La Piana, Roberta R; Messana, Tullio T; Moroni, Isabella I; Nardocci, Nardo N; Panteghini, Celeste C; Parazzini, Cecilia C; Pichiecchio, Anna A; Pini, Antonella A; Ricci, Federica F; Saletti, Veronica V; Salvatici, Elisabetta E; Santorelli, Filippo M FM; Sartori, Stefano S; Tinelli, Francesca F; Uggetti, Carla C; Veneselli, Edvige E; Zorzi, Giovanna G; Garavaglia, Barbara B; Fazzi, Elisa E; Orcesi, Simona S; Cereda, Cristina C

Publication Date: 2019-05-26

Variant appearance in text: ADAR1: 577C>G; rs145588689

PubMed Link: 31130681

Variant Present in the following documents:

• Main text

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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The RNA binding activity of the first identified trypanosome protein with Z-DNA-binding domains.

Scientific Reports

Nikpour, Najmeh N; Salavati, Reza R

Publication Date: 2019-04-11

Variant appearance in text: ADAR1: P193A

PubMed Link: 30976048

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42409.pdf

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Z-DNA and Z-RNA in human disease.

Communications Biology

Herbert, Alan A

Publication Date: 2019

Variant appearance in text: ADAR: P193A

PubMed Link: 30729177

Variant Present in the following documents:

• Main text
• 42003_2018_Article_237.pdf

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Diagnostic value of partial exome sequencing in developmental disorders.

Plos One

Gieldon, Laura L; Mackenroth, Luisa L; Kahlert, Anne-Karin AK; Lemke, Johannes R JR; Porrmann, Joseph J; Schallner, Jens J; von der Hagen, Maja M; Markus, Susanne S; Weidensee, Sabine S; Novotna, Barbara B; Soerensen, Charlotte C; Klink, Barbara B; Wagner, Johannes J; Tzschach, Andreas A; Jahn, Arne A; Kuhlee, Franziska F; Hackmann, Karl K; Schrock, Evelin E; Di Donato, Nataliya N; Rump, Andreas A

Publication Date: 2018

Variant appearance in text: ADAR: 577C>G; Pro193Ala

PubMed Link: 30091983

Variant Present in the following documents:

• pone.0201041.s001.xlsx, sheet 1

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Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology

Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE

Publication Date: 2018-07

Variant appearance in text: ADAR: P193A

PubMed Link: 29908077

Variant Present in the following documents:

• Main text
• ANA-84-51.pdf

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ADAR: P193A; rs145588689

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: ADAR: 577C>G; P193A; rs145588689

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1
• oncotarget-08-99237-s002.xlsx, sheet 1

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