Publications:

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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.

Elife

Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P

Publication Date: 2022-12-01

Variant appearance in text: HBB: 208G>A; G70S

PubMed Link: 36453528

Variant Present in the following documents:

• elife-79713-supp2.xlsx, sheet 6
• elife-79713-supp2.xlsx, sheet 1
• elife-79713-supp2.xlsx, sheet 3

View BVdb publication page

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Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry

Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF

Publication Date: 2022-09

Variant appearance in text: HBB: G70S

PubMed Link: 35863433

Variant Present in the following documents:

• mmc4.xlsx, sheet 3

View BVdb publication page

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Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.

Npj Precision Oncology

Wu, Chia-Chin CC; Beird, Hannah C HC; Lamhamedi-Cherradi, Salah-Eddine SE; Soeung, Melinda M; Ingram, Davis D; Truong, Danh D DD; Porter, Robert W RW; Krishnan, Sandhya S; Little, Latasha L; Gumbs, Curtis C; Zhang, Jianhua J; Titus, Mark M; Genovese, Giannicola G; Ludwig, Joseph A JA; Lazar, Alexander J AJ; Hayes-Jordan, Andrea A; Futreal, P Andrew PA

Publication Date: 2022-04-04

Variant appearance in text: HBB: G70S; rs33947415

PubMed Link: 35379887

Variant Present in the following documents:

• 41698_2022_257_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: HBB: G70S; rs33947415

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.

Nature Communications

Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A

Publication Date: 2021-06-23

Variant appearance in text: HBB: G70S

PubMed Link: 34162872

Variant Present in the following documents:

• 41467_2021_24164_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: HBB: G70S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: HBB: G70S

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Cold Spring Harbor Molecular Case Studies

Rohanizadegan, Mersedeh M; Abdo, Sara M SM; O'Donnell-Luria, Anne A; Mihalek, Ivana I; Chen, Peggy P; Sanders, Marilyn M; Leeman, Kristen K; Cho, Megan M; Hung, Christina C; Bodamer, Olaf O

Publication Date: 2017-11

Variant appearance in text: HBB: 208G>A; G70S

PubMed Link: 28802248

Variant Present in the following documents:

• Main text
• RohanizadeganMCS002147.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: HBB: 208G>A; Gly70Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: HBB: 208G>A; G70S; rs33947415

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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The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Scientific Reports

Kountouris, Petros P; Kousiappa, Ioanna I; Papasavva, Thessalia T; Christopoulos, George G; Pavlou, Eleni E; Petrou, Miranda M; Feleki, Xenia X; Karitzie, Eleni E; Phylactides, Marios M; Fanis, Pavlos P; Lederer, Carsten W CW; Kyrri, Andreani R AR; Kalogerou, Eleni E; Makariou, Christiana C; Ioannou, Christiana C; Kythreotis, Loukas L; Hadjilambi, Georgia G; Andreou, Nicoletta N; Pangalou, Evangelia E; Savvidou, Irene I; Angastiniotis, Michael M; Hadjigavriel, Michael M; Sitarou, Maria M; Kolnagou, Annita A; Kleanthous, Marina M; Christou, Soteroula S

Publication Date: 2016-05-20

Variant appearance in text: HBB: 208G>A

PubMed Link: 27199182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Genetic Testing And Molecular Biomarkers

Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM

Publication Date: 2016-06

Variant appearance in text: HBB: G70S

PubMed Link: 27104957

Variant Present in the following documents:

• Main text
• gtmb.2016.0014.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HBB: G70S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: HBB: G70S; rs33947415

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: HBB: G70S; rs33947415

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5

View BVdb publication page

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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics

Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G

Publication Date: 2014-06

Variant appearance in text: rs33947415

PubMed Link: 24777453

Variant Present in the following documents:

• NIHMS581495-supplement-1.pdf

View BVdb publication page

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