Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: PLG: 758G>A; Arg253His; rs143034754

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: PLG: R253H; rs143034754

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl4.xlsx, sheet 24
• advancesADV2021006654-suppl12.xlsx, sheet 1

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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: PLG: 758G>A; Arg253His; rs143034754

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PLG: 758G>A; R253H

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Translational Psychiatry

Forstner, Andreas J AJ; Fischer, Sascha B SB; Schenk, Lorena M LM; Strohmaier, Jana J; Maaser-Hecker, Anna A; Reinbold, Céline S CS; Sivalingam, Sugirthan S; Hecker, Julian J; Streit, Fabian F; Degenhardt, Franziska F; Witt, Stephanie H SH; Schumacher, Johannes J; Thiele, Holger H; Nürnberg, Peter P; Guzman-Parra, José J; Orozco Diaz, Guillermo G; Auburger, Georg G; Albus, Margot M; Borrmann-Hassenbach, Margitta M; González, Maria José MJ; Gil Flores, Susana S; Cabaleiro Fabeiro, Francisco J FJ; Del Río Noriega, Francisco F; Perez Perez, Fermin F; Haro González, Jesus J; Rivas, Fabio F; Mayoral, Fermin F; Bauer, Michael M; Pfennig, Andrea A; Reif, Andreas A; Herms, Stefan S; Hoffmann, Per P; Pirooznia, Mehdi M; Goes, Fernando S FS; Rietschel, Marcella M; Nöthen, Markus M MM; Cichon, Sven S

Publication Date: 2020-02-04

Variant appearance in text: PLG: R253H

PubMed Link: 32066727

Variant Present in the following documents:

• 41398_2020_732_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: PLG: 758G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_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: PLG: 758G>A; R253H; rs143034754

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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Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.

Journal Of Korean Medical Science

Cheong, Hae Il HI; Jo, Sang Kyung SK; Yoon, Sung Soo SS; Cho, Heeyeon H; Kim, Jin Seok JS; Kim, Young Ok YO; Koo, Ja Ryong JR; Park, Yong Y; Park, Young Seo YS; Shin, Jae Il JI; Yoo, Kee Hwan KH; Oh, Doyeun D

Publication Date: 2016-10

Variant appearance in text: PLG: 758G>A; Arg253His

PubMed Link: 27550478

Variant Present in the following documents:

• Main text
• jkms-31-1516.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: PLG: 758G>A; R253H; rs143034754

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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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs143034754

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PLG: R253H; rs143034754

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Journal Of The American Society Of Nephrology : Jasn

Bu, Fengxiao F; Maga, Tara T; Meyer, Nicole C NC; Wang, Kai K; Thomas, Christie P CP; Nester, Carla M CM; Smith, Richard J H RJ

Publication Date: 2014-01

Variant appearance in text: PLG: 758G>A; R253H; rs143034754

PubMed Link: 24029428

Variant Present in the following documents:

• Main text

View BVdb publication page

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