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: 217G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology

Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K

Publication Date: 2022-06-28

Variant appearance in text: 225: 217G>A

PubMed Link: 35777247

Variant Present in the following documents:

• mmc5.xls, sheet 3

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: 225: 217G>A

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports

Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T

Publication Date: 2022-01-07

Variant appearance in text: 225: 217G>A

PubMed Link: 34996979

Variant Present in the following documents:

• 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: 225: 217G>A

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 2

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: 225: 217G>A

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 217G>A

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.xlsx, sheet 1

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: 217G>A

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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HIV-1 transmitted drug resistance surveillance: shifting trends in study design and prevalence estimates.

Journal Of The International Aids Society

Rhee, Soo-Yon SY; Kassaye, Seble G SG; Barrow, Geoffrey G; Sundaramurthi, Jagadish Chandrabose JC; Jordan, Michael R MR; Shafer, Robert W RW

Publication Date: 2020-09

Variant appearance in text: 225: G73S

PubMed Link: 32936523

Variant Present in the following documents:

• JIA2-23-e25611-s002.xlsx, sheet 1

View BVdb publication page

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HIV-1 reverse transcriptase and protease mutations for drug-resistance detection among treatment-experienced and naïve HIV-infected individuals.

Plos One

Bokharaei-Salim, Farah F; Esghaei, Maryam M; Khanaliha, Khadijeh K; Kalantari, Saeed S; Marjani, Arezoo A; Fakhim, Atousa A; Keyvani, Hossein H

Publication Date: 2020

Variant appearance in text: 225: G73S

PubMed Link: 32119691

Variant Present in the following documents:

• Main text

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: 217G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Discovery and Development of Anti-HIV Therapeutic Agents: Progress Towards Improved HIV Medication.

Current Topics In Medicinal Chemistry

Maeda, Kenji K; Das, Debananda D; Kobayakawa, Takuya T; Tamamura, Hirokazu H; Takeuchi, Hiroaki H

Publication Date: 2019

Variant appearance in text: 225: G73S

PubMed Link: 31424371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: 225: 217G>A

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1

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: 217G>A

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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Whole-exome sequencing for variant discovery in blepharospasm.

Molecular Genetics & Genomic Medicine

Tian, Jun J; Vemula, Satya R SR; Xiao, Jianfeng J; Valente, Enza Maria EM; Defazio, Giovanni G; Petrucci, Simona S; Gigante, Angelo Fabio AF; Rudzińska-Bar, Monika M; Wszolek, Zbigniew K ZK; Kennelly, Kathleen D KD; Uitti, Ryan J RJ; van Gerpen, Jay A JA; Hedera, Peter P; Trimble, Elizabeth J EJ; LeDoux, Mark S MS

Publication Date: 2018-05-16

Variant appearance in text: 225: 217G>A

PubMed Link: 29770609

Variant Present in the following documents:

• MGG3-6-601-s002.pdf

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: 217G>A

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 217G>A

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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Structural analyses of 2015-updated drug-resistant mutations in HIV-1 protease: an implication of protease inhibitor cross-resistance.

Bmc Bioinformatics

Su, Chinh Tran-To CT; Ling, Wei-Li WL; Lua, Wai-Heng WH; Haw, Yu-Xuan YX; Gan, Samuel Ken-En SK

Publication Date: 2016-12-22

Variant appearance in text: 225: G73S

PubMed Link: 28155724

Variant Present in the following documents:

• 12859_2016_Article_1372.pdf

View BVdb publication page

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A Modified P1 Moiety Enhances In Vitro Antiviral Activity against Various Multidrug-Resistant HIV-1 Variants and In Vitro Central Nervous System Penetration Properties of a Novel Nonpeptidic Protease Inhibitor, GRL-10413.

Antimicrobial Agents And Chemotherapy

Amano, Masayuki M; Salcedo-Gómez, Pedro Miguel PM; Zhao, Rui R; Yedidi, Ravikiran S RS; Das, Debananda D; Bulut, Haydar H; Delino, Nicole S NS; Sheri, Venkata Reddy VR; Ghosh, Arun K AK; Mitsuya, Hiroaki H

Publication Date: 2016-12

Variant appearance in text: 225: G73S

PubMed Link: 27620483

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV-1 Protease, Reverse Transcriptase, and Integrase Variation.

Journal Of Virology

Rhee, Soo-Yon SY; Sankaran, Kris K; Varghese, Vici V; Winters, Mark A MA; Hurt, Christopher B CB; Eron, Joseph J JJ; Parkin, Neil N; Holmes, Susan P SP; Holodniy, Mark M; Shafer, Robert W RW

Publication Date: 2016-07-01

Variant appearance in text: 225: G73S

PubMed Link: 27099321

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: 217G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Persistent genital tract HIV-1 RNA shedding after change in treatment regimens in antiretroviral-experienced women with detectable plasma viral load.

Journal Of Women'S Health (2002)

Venkatesh, Kartik K KK; DeLong, Allison K AK; Kantor, Rami R; Chapman, Stacey S; Ingersoll, Jessica J; Kurpewski, Jaclynn J; De Pasquale, Maria Pia MP; D'Aquila, Richard R; Caliendo, Angela M AM; Cu-Uvin, Susan S

Publication Date: 2013-04

Variant appearance in text: 225: G73S

PubMed Link: 23531097

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transmitted Drug Resistance among People Living with HIV/Aids at Major Cities of Sao Paulo State, Brazil.

Advances In Virology

Ferreira, Joao Leandro Paula JL; Rodrigues, Rosangela R; Lança, Andre Minhoto AM; de Almeida, Valeria Correia VC; Rocha, Simone Queiroz SQ; Ragazzo, Taisa Grotta TG; Estevam, Denise Lotufo DL; Brigido, Luis Fernando de Macedo LF

Publication Date: 2013

Variant appearance in text: 225: G73S

PubMed Link: 23401688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resistance in pediatric patients experiencing virologic failure with first-line and second-line antiretroviral therapy.

The Pediatric Infectious Disease Journal

Orrell, Catherine C; Levison, Julie J; Ciaranello, Andrea A; Bekker, Linda-Gail LG; Kuritzkes, Daniel R DR; Freedberg, Kenneth A KA; Wood, Robin R

Publication Date: 2013-06

Variant appearance in text: 225: G73S

PubMed Link: 23303240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical, epidemiological and molecular features of the HIV-1 subtype C and recombinant forms that are circulating in the city of São Paulo, Brazil.

Virology Journal

Alcalde, Rosana R; Guimarães, Monick L ML; Duarte, Alberto J S AJ; Casseb, Jorge J

Publication Date: 2012-08-09

Variant appearance in text: 225: G73S

PubMed Link: 22877156

Variant Present in the following documents:

• Main text
• 1743-422X-9-156.pdf

View BVdb publication page

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A Guide to HIV-1 Reverse Transcriptase and Protease Sequencing for Drug Resistance Studies.

Hiv Sequence Compendium

Shafer, Robert W RW; Dupnik, Kathryn K; Winters, Mark A MA; Eshleman, Susan H SH

Publication Date: 2001

Variant appearance in text: 225: G73S

PubMed Link: 22324021

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of darunavir in the management of HIV infection.

Hiv/Aids (Auckland, N.Z.)

Lascar, R Monica RM; Benn, Paul P

Publication Date: 2009

Variant appearance in text: 225: G73S

PubMed Link: 22096377

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Genetic Basis of HIV-1 Resistance to Reverse Transcriptase and Protease Inhibitors.

Aids Reviews

Shafer, Robert W RW; Kantor, Rami R; Gonzales, Matthew J MJ

Publication Date: 2000

Variant appearance in text: 225: G73S

PubMed Link: 19096725

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV-1 drug resistance mutations: an updated framework for the second decade of HAART.

Aids Reviews

Shafer, Robert W RW; Schapiro, Jonathan M JM

Publication Date: 2008

Variant appearance in text: 225: G73S

PubMed Link: 18615118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotypic predictors of human immunodeficiency virus type 1 drug resistance.

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

Rhee, Soo-Yon SY; Taylor, Jonathan J; Wadhera, Gauhar G; Ben-Hur, Asa A; Brutlag, Douglas L DL; Shafer, Robert W RW

Publication Date: 2006-11-14

Variant appearance in text: 225: G73S

PubMed Link: 17065321

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of a multiple-cycle, recombinant virus, growth competition assay that uses flow cytometry to measure replication efficiency of human immunodeficiency virus type 1 in cell culture.

Journal Of Clinical Microbiology

Dykes, Carrie C; Wang, Jiong J; Jin, Xia X; Planelles, Vicente V; An, Dong Sung DS; Tallo, Amanda A; Huang, Yangxin Y; Wu, Hulin H; Demeter, Lisa M LM

Publication Date: 2006-06

Variant appearance in text: 225: G73S

PubMed Link: 16757582

Variant Present in the following documents:

• Main text

View BVdb publication page

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HIV-1 Protease and reverse-transcriptase mutations: correlations with antiretroviral therapy in subtype B isolates and implications for drug-resistance surveillance.

The Journal Of Infectious Diseases

Rhee, Soo-Yon SY; Fessel, W Jeffrey WJ; Zolopa, Andrew R AR; Hurley, Leo L; Liu, Tommy T; Taylor, Jonathan J; Nguyen, Dong Phuong DP; Slome, Sally S; Klein, Daniel D; Horberg, Michael M; Flamm, Jason J; Follansbee, Stephen S; Schapiro, Jonathan M JM; Shafer, Robert W RW

Publication Date: 2005-08-01

Variant appearance in text: 225: G73S

PubMed Link: 15995959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources and magnitude of intralaboratory variability in a sequence-based genotypic assay for human immunodeficiency virus type 1 drug resistance.

Journal Of Clinical Microbiology

Galli, R A RA; Sattha, B B; Wynhoven, B B; O'Shaughnessy, M V MV; Harrigan, P R PR

Publication Date: 2003-07

Variant appearance in text: 225: G73S

PubMed Link: 12843019

Variant Present in the following documents:

• Main text

View BVdb publication page

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