Publications:

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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: UGT1A6: 1018C>T; Arg340Ter

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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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs72551349

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: UGT1A4: 1024C>T; Arg342*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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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: UGT1A4: 1024C>T; R342*

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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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: UGT1A1: 1021C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: UGT1A3: R342X; rs72551349

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: UGT1A1: 1021C>T; R341X; rs72551349

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

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Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

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

Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R

Publication Date: 2021-06-01

Variant appearance in text: UGT1A1: R341*

PubMed Link: 34050029

Variant Present in the following documents:

• pnas.2104504118.sd02.xlsx, sheet 1

View BVdb publication page

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De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Circulation. Genomic And Precision Medicine

Boskovski, Marko T MT; Homsy, Jason J; Nathan, Meena M; Sleeper, Lynn A LA; Morton, Sarah S; Manheimer, Kathryn B KB; Tai, Angela A; Gorham, Joshua J; Lewis, Matthew M; Swartz, Michael M; Alfieris, George M GM; Bacha, Emile A EA; Karimi, Mohsen M; Meyer, David D; Nguyen, Khanh K; Bernstein, Daniel D; Romano-Adesman, Angela A; Porter, George A GA; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Srivastava, Deepak D; Kaltman, Jonathan R JR; Tristani-Firouzi, Martin M; Lifton, Richard R; Roberts, Amy E AE; Gaynor, J William JW; Gelb, Bruce D BD; Kim, Richard R; Seidman, Jonathan G JG; Brueckner, Martina M; Mayer, John E JE; Newburger, Jane W JW; Seidman, Christine E CE

Publication Date: 2020-08

Variant appearance in text: UGT1A6: R340X

PubMed Link: 32812804

Variant Present in the following documents:

• hcg-13-e002836-s001.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: UGT1A1: 1021C>T; R341X; rs72551349

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational Psychiatry

Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D

Publication Date: 2020-02-24

Variant appearance in text: UGT1A1: 1021C>T; Arg341*

PubMed Link: 32094338

Variant Present in the following documents:

• 41398_2020_760_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: UGT1A3: 1024C>T; Arg342Ter

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Medicine

Abuduxikuer, Kuerbanjiang K; Fang, Ling-Juan LJ; Li, Li-Ting LT; Gong, Jing-Yu JY; Wang, Jian-She JS

Publication Date: 2018-12

Variant appearance in text: UGT1A1: 1021C>T; R341X

PubMed Link: 30544479

Variant Present in the following documents:

• Main text
• medi-97-e13576.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72551349

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: UGT1A6: 1018C>T; Arg340Ter

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs72551349

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: UGT1A6: R340*; rs72551349

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: UGT1A7: R338X; rs72551349

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72551349

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72551349

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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