Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: C345=

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The Promiscuous Profile of Complement Receptor 3 in Ligand Binding, Immune Modulation, and Pathophysiology.

Frontiers In Immunology

Lamers, Christina C; Plüss, Carla Johanna CJ; Ricklin, Daniel D

Publication Date: 2021

Variant appearance in text: 225: C345c

PubMed Link: 33995387

Variant Present in the following documents:

• Main text
• fimmu-12-662164.pdf

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 1035T>C

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: 225: 1035T>C

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Transcriptomic Analysis Reveals Abnormal Expression of Prion Disease Gene Pathway in Brains from Patients with Autism Spectrum Disorders.

Brain Sciences

Lombardo, Salvo Danilo SD; Battaglia, Giuseppe G; Petralia, Maria Cristina MC; Mangano, Katia K; Basile, Maria Sofia MS; Bruno, Valeria V; Fagone, Paolo P; Bella, Rita R; Nicoletti, Ferdinando F; Cavalli, Eugenio E

Publication Date: 2020-03-29

Variant appearance in text: EGR1: C345C

PubMed Link: 32235346

Variant Present in the following documents:

• brainsci-10-00200-s001.xlsx, sheet 1

View BVdb publication page

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Distinct gene expression patterns in vector-residing Leishmania infantum identify parasite stage-enriched markers.

Plos Neglected Tropical Diseases

Coutinho-Abreu, Iliano V IV; Serafim, Tiago D TD; Meneses, Claudio C; Kamhawi, Shaden S; Oliveira, Fabiano F; Valenzuela, Jesus G JG

Publication Date: 2020-03

Variant appearance in text: 225: C345C

PubMed Link: 32126078

Variant Present in the following documents:

• pntd.0008014.s008.xlsx, sheet 7

View BVdb publication page

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: 225: C345c

PubMed Link: 31844290

Variant Present in the following documents:

• NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 4
• NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 7

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 1035T>C

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Microstructure and in-depth proteomic analysis of Perna viridis shell.

Plos One

Liao, Zhi Z; Jiang, Yu-Ting YT; Sun, Qi Q; Fan, Mei-Hua MH; Wang, Jian-Xin JX; Liang, Hai-Ying HY

Publication Date: 2019

Variant appearance in text: 225: C345C

PubMed Link: 31323046

Variant Present in the following documents:

• Main text
• pone.0219699.pdf

View BVdb publication page

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Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma.

Nature Communications

Bandopadhayay, Pratiti P; Piccioni, Federica F; O'Rourke, Ryan R; Ho, Patricia P; Gonzalez, Elizabeth M EM; Buchan, Graham G; Qian, Kenin K; Gionet, Gabrielle G; Girard, Emily E; Coxon, Margo M; Rees, Matthew G MG; Brenan, Lisa L; Dubois, Frank F; Shapira, Ofer O; Greenwald, Noah F NF; Pages, Melanie M; Balboni Iniguez, Amanda A; Paolella, Brenton R BR; Meng, Alice A; Sinai, Claire C; Roti, Giovanni G; Dharia, Neekesh V NV; Creech, Amanda A; Tanenbaum, Benjamin B; Khadka, Prasidda P; Tracy, Adam A; Tiv, Hong L HL; Hong, Andrew L AL; Coy, Shannon S; Rashid, Rumana R; Lin, Jia-Ren JR; Cowley, Glenn S GS; Lam, Fred C FC; Goodale, Amy A; Lee, Yenarae Y; Schoolcraft, Kathleen K; Vazquez, Francisca F; Hahn, William C WC; Tsherniak, Aviad A; Bradner, James E JE; Yaffe, Michael B MB; Milde, Till T; Pfister, Stefan M SM; Qi, Jun J; Schenone, Monica M; Carr, Steven A SA; Ligon, Keith L KL; Kieran, Mark W MW; Santagata, Sandro S; Olson, James M JM; Gokhale, Prafulla C PC; Jaffe, Jacob D JD; Root, David E DE; Stegmaier, Kimberly K; Johannessen, Cory M CM; Beroukhim, Rameen R

Publication Date: 2019-06-03

Variant appearance in text: 225: 1035T>C

PubMed Link: 31160565

Variant Present in the following documents:

• 41467_2019_10307_MOESM8_ESM.xlsx, sheet 5

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: 225: 1035T>C

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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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 1035T>C

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Species Specificity of Vaccinia Virus Complement Control Protein for the Bovine Classical Pathway Is Governed Primarily by Direct Interaction of Its Acidic Residues with Factor I.

Journal Of Virology

Kumar, Jitendra J; Yadav, Viveka Nand VN; Phulera, Swastik S; Kamble, Ashish A; Gautam, Avneesh Kumar AK; Panwar, Hemendra Singh HS; Sahu, Arvind A

Publication Date: 2017-10-01

Variant appearance in text: 225: C345C

PubMed Link: 28724763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 1035T>C

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Structure of Complement C3(H2O) Revealed By Quantitative Cross-Linking/Mass Spectrometry And Modeling.

Molecular & Cellular Proteomics : Mcp

Chen, Zhuo A ZA; Pellarin, Riccardo R; Fischer, Lutz L; Sali, Andrej A; Nilges, Michael M; Barlow, Paul N PN; Rappsilber, Juri J

Publication Date: 2016-08

Variant appearance in text: 225: C345C

PubMed Link: 27250206

Variant Present in the following documents:

• 10.1074_M115.056473_mcp.M115.056473-4.pdf

View BVdb publication page

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CCR5 deficiency accelerates lipopolysaccharide-induced astrogliosis, amyloid-beta deposit and impaired memory function.

Oncotarget

Hwang, Chul Ju CJ; Park, Mi Hee MH; Hwang, Jae Yeon JY; Kim, Ju Hwan JH; Yun, Na Young NY; Oh, Sang Yeon SY; Song, Ju Kyung JK; Seo, Hyun Ok HO; Kim, Yun-Bae YB; Hwang, Dae Yeon DY; Oh, Ki-Wan KW; Han, Sang-Bae SB; Hong, Jin Tae JT

Publication Date: 2016-03-15

Variant appearance in text: EGR1: C345C

PubMed Link: 26910914

Variant Present in the following documents:

• oncotarget-07-11984-s001.pdf

View BVdb publication page

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Complement System Part I - Molecular Mechanisms of Activation and Regulation.

Frontiers In Immunology

Merle, Nicolas S NS; Church, Sarah Elizabeth SE; Fremeaux-Bacchi, Veronique V; Roumenina, Lubka T LT

Publication Date: 2015

Variant appearance in text: 225: C345C

PubMed Link: 26082779

Variant Present in the following documents:

• Main text
• fimmu-06-00262.pdf

View BVdb publication page

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Infections of people with complement deficiencies and patients who have undergone splenectomy.

Clinical Microbiology Reviews

Ram, Sanjay S; Lewis, Lisa A LA; Rice, Peter A PA

Publication Date: 2010-10

Variant appearance in text: 225: C345c

PubMed Link: 20930072

Variant Present in the following documents:

• Main text

View BVdb publication page

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A heterodimeric complex of the LRR proteins LRIM1 and APL1C regulates complement-like immunity in Anopheles gambiae.

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

Baxter, Richard H G RH; Steinert, Stefanie S; Chelliah, Yogarany Y; Volohonsky, Gloria G; Levashina, Elena A EA; Deisenhofer, Johann J

Publication Date: 2010-09-28

Variant appearance in text: 225: C345C

PubMed Link: 20826443

Variant Present in the following documents:

• Main text

View BVdb publication page

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A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia.

Plos Genetics

Plaisier, Christopher L CL; Horvath, Steve S; Huertas-Vazquez, Adriana A; Cruz-Bautista, Ivette I; Herrera, Miguel F MF; Tusie-Luna, Teresa T; Aguilar-Salinas, Carlos C; Pajukanta, Päivi P

Publication Date: 2009-09

Variant appearance in text: 225: C345C

PubMed Link: 19750004

Variant Present in the following documents:

• pgen.1000642.s007.pdf

View BVdb publication page

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