Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 1A>G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation

Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M

Publication Date: 2023-03-16

Variant appearance in text: GC: 1A>G

PubMed Link: 36928090

Variant Present in the following documents:

• jci-133-164413-s193.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 1A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

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: GC: 1A>G; Met1Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Beyond the genomes of Fulvia fulva (syn. Cladosporium fulvum) and Dothistroma septosporum: New insights into how these fungal pathogens interact with their host plants.

Molecular Plant Pathology

Mesarich, Carl H CH; Barnes, Irene I; Bradley, Ellie L EL; de la Rosa, Silvia S; de Wit, Pierre J G M PJGM; Guo, Yanan Y; Griffiths, Scott A SA; Hamelin, Richard C RC; Joosten, Matthieu H A J MHAJ; Lu, Mengmeng M; McCarthy, Hannah M HM; Schol, Christiaan R CR; Stergiopoulos, Ioannis I; Tarallo, Mariana M; Zaccaron, Alex Z AZ; Bradshaw, Rosie E RE

Publication Date: 2023-02-15

Variant appearance in text: GC: 1A>G

PubMed Link: 36790136

Variant Present in the following documents:

• MPP-24-474.pdf

View BVdb publication page

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Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.

Frontiers In Genetics

Khandakji, Mohannad N MN; Mifsud, Borbala B

Publication Date: 2022

Variant appearance in text: GC: 1A>G

PubMed Link: 36246618

Variant Present in the following documents:

• Table1.xlsx, sheet 3

View BVdb publication page

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Whole genome resequencing and complementation tests reveal candidate loci contributing to bacterial wilt (Ralstonia sp.) resistance in tomato.

Scientific Reports

Barchenger, Derek W DW; Hsu, Yu-Ming YM; Ou, Jheng-Yang JY; Lin, Ya-Ping YP; Lin, Yao-Cheng YC; Balendres, Mark Angelo O MAO; Hsu, Yun-Che YC; Schafleitner, Roland R; Hanson, Peter P

Publication Date: 2022-05-19

Variant appearance in text: GC: 1A>G

PubMed Link: 35589778

Variant Present in the following documents:

• 41598_2022_12326_MOESM4_ESM.xlsx, sheet 4

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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: GC: 1A>G

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

The Journal Of Experimental Medicine

Li, Juan J; Lei, Wei-Te WT; Zhang, Peng P; Rapaport, Franck F; Seeleuthner, Yoann Y; Lyu, Bingnan B; Asano, Takaki T; Rosain, Jérémie J; Hammadi, Boualem B; Zhang, Yu Y; Pelham, Simon J SJ; Spaan, András N AN; Migaud, Mélanie M; Hum, David D; Bigio, Benedetta B; Chrabieh, Maya M; Béziat, Vivien V; Bustamante, Jacinta J; Zhang, Shen-Ying SY; Jouanguy, Emmanuelle E; Boisson-Dupuis, Stephanie S; El Baghdadi, Jamila J; Aimanianda, Vishukumar V; Thoma, Katharina K; Fliegauf, Manfred M; Grimbacher, Bodo B; Korganow, Anne-Sophie AS; Saunders, Carol C; Rao, V Koneti VK; Uzel, Gulbu G; Freeman, Alexandra F AF; Holland, Steven M SM; Su, Helen C HC; Cunningham-Rundles, Charlotte C; Fieschi, Claire C; Abel, Laurent L; Puel, Anne A; Cobat, Aurélie A; Casanova, Jean-Laurent JL; Zhang, Qian Q; Boisson, Bertrand B

Publication Date: 2021-11-01

Variant appearance in text: GC: 1A>G; Met1Val

PubMed Link: 34473196

Variant Present in the following documents:

• JEM_20210566_TableS1.xlsx, sheet 1

View BVdb publication page

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GC: 1A>G

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GC: 1A>G

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine

Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M

Publication Date: 2020-12-30

Variant appearance in text: GC: 1A>G

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: GC: 1A>G

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications

Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2020-10-01

Variant appearance in text: GC: 1A>G

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications

Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S

Publication Date: 2020-09-14

Variant appearance in text: GC: 1A>G

PubMed Link: 32929070

Variant Present in the following documents:

• 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

Eye (London, England)

Ba-Abbad, Rola R; Robson, Anthony G AG; Mahroo, Omar A OA; Wright, Genevieve G; Schiff, Elena E; Duignan, Emma S ES; Michaelides, Michel M; Arno, Gavin G; Webster, Andrew R AR

Publication Date: 2021-05

Variant appearance in text: GC: 1A>G

PubMed Link: 32681094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Molecular Genetics & Genomic Medicine

Wang, Chao C; Liu, Yang Y; Cai, Fengying F; Zhang, Xinjie X; Xu, Xiaowei X; Li, Yani Y; Zou, Qianqian Q; Zheng, Jie J; Zhang, Yuqin Y; Guo, Wei W; Cai, Chunquan C; Shu, Jianbo J

Publication Date: 2020-06

Variant appearance in text: GC: 1A>G; Met1Val

PubMed Link: 32198913

Variant Present in the following documents:

• MGG3-8-e1221.pdf

View BVdb publication page

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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Human Mutation

Abdelkreem, Elsayed E; Harijan, Rajesh K RK; Yamaguchi, Seiji S; Wierenga, Rikkert K RK; Fukao, Toshiyuki T

Publication Date: 2019-10

Variant appearance in text: GC: 1A>G

PubMed Link: 31268215

Variant Present in the following documents:

• HUMU-40-1641-s001.pdf

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: GC: 1A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.

Clinical Case Reports

Comegna, Marika M; Amato, Felice F; Liguori, Renato R; Berni Canani, Roberto R; Spagnuolo, Maria Immacolata MI; Morroni, Manrico M; Guarino, Alfredo A; Castaldo, Giuseppe G

Publication Date: 2018-12

Variant appearance in text: GC: 1A>G

PubMed Link: 30564347

Variant Present in the following documents:

• Main text
• CCR3-6-2451.pdf

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: GC: 1A>G

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: GC: 1A>G

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: GC: 1A>G

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: GC: M1V

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies

Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2017-01

Variant appearance in text: N/A

PubMed Link: 28050602

Variant Present in the following documents:

View BVdb publication page

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Mutation spectrum of PAX6 in Chinese patients with aniridia.

Molecular Vision

Zhang, Xiaohui X; Wang, Panfeng P; Li, Shiqiang S; Xiao, Xueshan X; Guo, Xiangming X; Zhang, Qingjiong Q

Publication Date: 2011

Variant appearance in text: GC: 1A>G

PubMed Link: 21850189

Variant Present in the following documents:

• mv-v17-2139.pdf

View BVdb publication page

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