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: RNASEH2B: Ala177Thr

PubMed Link: 37171742

Variant Present in the following documents:

• Main text
• 10875_2023_Article_1500.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: RNASEH2B: A177T

PubMed Link: 36998476

Variant Present in the following documents:

• Main text
• fendo-14-1152237.pdf

View BVdb publication page

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Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes.

International Journal Of Molecular Sciences

Dragoni, Francesca F; Garau, Jessica J; Sproviero, Daisy D; Orcesi, Simona S; Varesio, Costanza C; De Siervi, Silvia S; Gagliardi, Stella S; Cereda, Cristina C; Pansarasa, Orietta O

Publication Date: 2022-11-21

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 36430958

Variant Present in the following documents:

• Main text
• ijms-23-14482.pdf

View BVdb publication page

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Proceedings of the 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana).

Medicine

Publication Date: 2022-07-29

Variant appearance in text: RNASEH2B: 529G>A

PubMed Link: 35905201

Variant Present in the following documents:

• Main text
• medi-101-e29313.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 9

View BVdb publication page

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DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.

The Journal Of Experimental Medicine

Giordano, Anna Maria Sole AMS; Luciani, Marco M; Gatto, Francesca F; Abou Alezz, Monah M; Beghè, Chiara C; Della Volpe, Lucrezia L; Migliara, Alessandro A; Valsoni, Sara S; Genua, Marco M; Dzieciatkowska, Monika M; Frati, Giacomo G; Tahraoui-Bories, Julie J; Giliani, Silvia Clara SC; Orcesi, Simona S; Fazzi, Elisa E; Ostuni, Renato R; D'Alessandro, Angelo A; Di Micco, Raffaella R; Merelli, Ivan I; Lombardo, Angelo A; Reijns, Martin A M MAM; Gromak, Natalia N; Gritti, Angela A; Kajaste-Rudnitski, Anna A

Publication Date: 2022-04-04

Variant appearance in text: AGS2: A177T

PubMed Link: 35262626

Variant Present in the following documents:

• Main text
• JEM_20211121.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: RNASEH2B: A177T; rs75184679

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

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

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 35046417

Variant Present in the following documents:

• Main text

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 35046417

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

Schlüter, Agatha A; Rodríguez-Palmero, Agustí A; Verdura, Edgard E; Vélez-Santamaría, Valentina V; Ruiz, Montserrat M; Fourcade, Stéphane S; Planas-Serra, Laura L; Martínez, Juan José JJ; Guilera, Cristina C; Girós, Marisa M; Artuch, Rafael R; Yoldi, María Eugenia ME; O'Callaghan, Mar M; García-Cazorla, Angels A; Armstrong, Judith J; Marti, Itxaso I; Mondragón Rezola, Elisabet E; Redin, Claire C; Mandel, Jean Louis JL; Conejo, David D; Sierra-Córcoles, Concepción C; Beltrán, Sergi S; Gut, Marta M; Vázquez, Elida E; Del Toro, Mireia M; Troncoso, Mónica M; Pérez-Jurado, Luis A LA; Gutiérrez-Solana, Luis G LG; López de Munain, Adolfo A; Casasnovas, Carlos C; Aguilera-Albesa, Sergio S; Macaya, Alfons A; Pujol, Aurora A; ,

Publication Date: 2022-03-01

Variant appearance in text: RNASEH2B: Ala177Thr

PubMed Link: 35012964

Variant Present in the following documents:

• Main text
• NEUROLOGY2021173779.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: RNASEH2B: 529G>A; A177T; rs75184679

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: RNASEH2B: 529G>A; A177T; rs75184679

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

---

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Genes

Grossi, Alice A; Miano, Maurizio M; Lanciotti, Marina M; Fioredda, Francesca F; Guardo, Daniela D; Palmisani, Elena E; Terranova, Paola P; Santamaria, Giuseppe G; Caroli, Francesco F; Caorsi, Roberta R; Volpi, Stefano S; Gattorno, Marco M; Dufour, Carlo C; Ceccherini, Isabella I

Publication Date: 2021-08-24

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 34573280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: RNASEH2B: 529G>A

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.

Frontiers In Neurology

Beysen, Diane D; De Cordt, Chania C; Dielman, Charlotte C; Ogunjimi, Benson B; Dandelooy, Julie J; Reyniers, Edwin E; Janssens, Katrien K; Meuwissen, Marije M E MME

Publication Date: 2021

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 33967934

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sensing of transposable elements by the antiviral innate immune system.

Rna (New York, N.Y.)

Gazquez-Gutierrez, Ana A; Witteveldt, Jeroen J; R Heras, Sara S; Macias, Sara S

Publication Date: 2021-04-22

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 33888553

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations.

Cellular & Molecular Immunology

Garau, Jessica J; Sproviero, Daisy D; Dragoni, Francesca F; Piscianz, Elisa E; Santonicola, Carolina C; Tonduti, Davide D; Carelli, Stephana S; Tesser, Alessandra A; Zuccotti, Gian Vincenzo GV; Tommasini, Alberto A; Orcesi, Simona S; Pansarasa, Orietta O; Cereda, Cristina C

Publication Date: 2021-06

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 33707687

Variant Present in the following documents:

• Main text
• 41423_2021_Article_657.pdf

View BVdb publication page

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Germline variation of Ribonuclease H2 genes in ovarian cancer patients.

Journal Of Ovarian Research

Polaczek, Rahel R; Schürmann, Peter P; Speith, Lisa-Marie LM; Geffers, Robert R; Dürst, Matthias M; Hillemanns, Peter P; Park-Simon, Tjoung-Won TW; Liebrich, Clemens C; Dörk, Thilo T

Publication Date: 2020-12-22

Variant appearance in text: RNASEH2B: A177T; rs75184679

PubMed Link: 33353557

Variant Present in the following documents:

• Main text
• 13048_2020_Article_753.pdf

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: RNASEH2B: Ala177Thr

PubMed Link: 33307271

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Frontiers In Immunology

Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,

Publication Date: 2020

Variant appearance in text: RNASEH2B: 529G>A

PubMed Link: 32373116

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.

Movement Disorders Clinical Practice

Videira, Gonçalo G; Malaquias, Maria João MJ; Laranjinha, Inês I; Martins, Ricardo R; Taipa, Ricardo R; Magalhães, Marina M

Publication Date: 2020-04

Variant appearance in text: RNASEH2B: 529G>A; A177T

PubMed Link: 32258229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.

Annals Of Clinical And Translational Neurology

Lambe, Jeffrey J; Murphy, Olwen C OC; Mu, Weiyi W; Sondergaard Schatz, Krista K; Barañano, Kristin W KW; Venkatesan, Arun A

Publication Date: 2020-02

Variant appearance in text: RNASEH2B: 529G>A; A177T

PubMed Link: 31920009

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: RNASEH2B: 529G>A; rs75184679

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

---

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 31664448

Variant Present in the following documents:

• Main text

View BVdb publication page

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A clinical score to guide in decision making for monogenic type I IFNopathies.

Pediatric Research

Sönmez, Hafize Emine HE; Karaaslan, Cagatay C; de Jesus, Adriana A AA; Batu, Ezgi Deniz ED; Anlar, Banu B; Sözeri, Betül B; Bilginer, Yelda Y; Karaguzel, Dilara D; Cagdas Ayvaz, Deniz D; Tezcan, Ilhan I; Goldbach-Mansky, Raphaela R; Ozen, Seza S

Publication Date: 2020-03

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 31641281

Variant Present in the following documents:

• Main text

View BVdb publication page

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Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

Journal Of Clinical Medicine

Boursier, Guilaine G; Rittore, Cécile C; Georgin-Lavialle, Sophie S; Belot, Alexandre A; Galeotti, Caroline C; Hachulla, Eric E; Hentgen, Véronique V; Rossi-Semerano, Linda L; Sarrabay, Guillaume G; Touitou, Isabelle I

Publication Date: 2019-10-18

Variant appearance in text: RNASEH2B: Ala177Thr

PubMed Link: 31635385

Variant Present in the following documents:

• Main text
• jcm-08-01729.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: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 31130681

Variant Present in the following documents:

• Main text
• jcm-08-00750.pdf

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Exome Sequencing in Children.

Deutsches Arzteblatt International

Mahler, Elisa A EA; Johannsen, Jessika J; Tsiakas, Konstantinos K; Kloth, Katja K; Lüttgen, Sabine S; Mühlhausen, Chris C; Alhaddad, Bader B; Haack, Tobias B TB; Strom, Tim M TM; Kortüm, Fanny F; Meitinger, Thomas T; Muntau, Ania C AC; Santer, René R; Kubisch, Christian C; Lessel, Davor D; Denecke, Jonas J; Hempel, Maja M

Publication Date: 2019-03-22

Variant appearance in text: RNASEH2B: 529G>A

PubMed Link: 31056085

Variant Present in the following documents:

• Main text

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Genome instability consequences of RNase H2 Aicardi-Goutières syndrome alleles.

Dna Repair

Potenski, Catherine J CJ; Epshtein, Anastasiya A; Bianco, Christopher C; Klein, Hannah L HL

Publication Date: 2019-12

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 30975634

Variant Present in the following documents:

• Main text

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: RNASEH2B: A177T; rs75184679

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 4
• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 3

View BVdb publication page

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A

Publication Date: 2018-11

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr; rs75184679

PubMed Link: 30293248

Variant Present in the following documents:

• Main text

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Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Orphanet Journal Of Rare Diseases

Tonduti, Davide D; Panteghini, Celeste C; Pichiecchio, Anna A; Decio, Alice A; Carecchio, Miryam M; Reale, Chiara C; Moroni, Isabella I; Nardocci, Nardo N; Campistol, Jaume J; Garcia-Cazorla, Angela A; Perez Duenas, Belen B; , ; Chiapparini, Luisa L; Garavaglia, Barbara B; Orcesi, Simona S

Publication Date: 2018-08-16

Variant appearance in text: RNASEH2B: Ala177Thr

PubMed Link: 30111349

Variant Present in the following documents:

• Main text
• 13023_2018_Article_854.pdf

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RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

The Embo Journal

Benitez-Guijarro, Maria M; Lopez-Ruiz, Cesar C; Tarnauskaitė, Žygimantė Ž; Murina, Olga O; Mian Mohammad, Mahwish M; Williams, Thomas C TC; Fluteau, Adeline A; Sanchez, Laura L; Vilar-Astasio, Raquel R; Garcia-Canadas, Marta M; Cano, David D; Kempen, Marie-Jeanne Hc MH; Sanchez-Pozo, Antonio A; Heras, Sara R SR; Jackson, Andrew P AP; Reijns, Martin Am MA; Garcia-Perez, Jose L JL

Publication Date: 2018-08-01

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 29959219

Variant Present in the following documents:

• Main text
• EMBJ-37-e98506-s008.pdf
• EMBJ-37-e98506.pdf

View BVdb publication page

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Astrocytes, an active player in Aicardi-Goutières syndrome.

Brain Pathology (Zurich, Switzerland)

Sase, Sunetra S; Takanohashi, Asako A; Vanderver, Adeline A; Almad, Akshata A

Publication Date: 2018-05

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 29740948

Variant Present in the following documents:

• Main text

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Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.

Molecular Syndromology

Jiménez-Romero, Salud S; Carrasco-Salas, Pilar P; Benítez-Burraco, Antonio A

Publication Date: 2018-02

Variant appearance in text: RNASEH2B: 529G>A; Ala177Thr

PubMed Link: 29593475

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: RNASEH2B: 529G>A; A177T; rs75184679

PubMed Link: 29245897

Variant Present in the following documents:

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

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Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Developmental Medicine And Child Neurology

Svingen, Leah L; Goheen, Mitchell M; Godfrey, Rena R; Wahl, Colleen C; Baker, Eva H EH; Gahl, William A WA; Malicdan, May Christine V MCV; Toro, Camilo C

Publication Date: 2017-12

Variant appearance in text: RNASEH2B: 529G>A

PubMed Link: 28762473

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome instabilities arising from ribonucleotides in DNA.

Dna Repair

Klein, Hannah L HL

Publication Date: 2017-08

Variant appearance in text: RNASEH2B: A177T

PubMed Link: 28629774

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nature Genetics

Jenkinson, Emma M EM; Rodero, Mathieu P MP; Kasher, Paul R PR; Uggenti, Carolina C; Oojageer, Anthony A; Goosey, Laurence C LC; Rose, Yoann Y; Kershaw, Christopher J CJ; Urquhart, Jill E JE; Williams, Simon G SG; Bhaskar, Sanjeev S SS; O'Sullivan, James J; Baerlocher, Gabriela M GM; Haubitz, Monika M; Aubert, Geraldine G; Barañano, Kristin W KW; Barnicoat, Angela J AJ; Battini, Roberta R; Berger, Andrea A; Blair, Edward M EM; Brunstrom-Hernandez, Janice E JE; Buckard, Johannes A JA; Cassiman, David M DM; Caumes, Rosaline R; Cordelli, Duccio M DM; De Waele, Liesbeth M LM; Fay, Alexander J AJ; Ferreira, Patrick P; Fletcher, Nicholas A NA; Fryer, Alan E AE; Goel, Himanshu H; Hemingway, Cheryl A CA; Henneke, Marco M; Hughes, Imelda I; Jefferson, Rosalind J RJ; Kumar, Ram R; Lagae, Lieven L; Landrieu, Pierre G PG; Lourenço, Charles M CM; Malpas, Timothy J TJ; Mehta, Sarju G SG; Metz, Imke I; Naidu, Sakkubai S; Õunap, Katrin K; Panzer, Axel A; Prabhakar, Prab P; Quaghebeur, Gerardine G; Schiffmann, Raphael R; Sherr, Elliott H EH; Sinnathuray, Kanaga R KR; Soh, Calvin C; Stewart, Helen S HS; Stone, John J; Van Esch, Hilde H; Van Mol, Christine E G CE; Vanderver, Adeline A; Wakeling, Emma L EL; Whitney, Andrea A; Pavitt, Graham D GD; Griffiths-Jones, Sam S; Rice, Gillian I GI; Revy, Patrick P; van der Knaap, Marjo S MS; Livingston, John H JH; O'Keefe, Raymond T RT; Crow, Yanick J YJ

Publication Date: 2016-10

Variant appearance in text: RNASEH2B: Ala177Thr

PubMed Link: 27571260

Variant Present in the following documents:

• Main text
• emss-69587.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: RNASEH2B: 529G>A; A177T; rs75184679

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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