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: PKLR: 721G>T; Glu241Ter

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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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: PKLR: 721G>T; Glu241Ter

PubMed Link: 36007526

Variant Present in the following documents:

• mmc1.pdf

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: PKLR: E241X; rs201953584

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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The variable manifestations of disease in pyruvate kinase deficiency and their management.

Haematologica

Al-Samkari, Hanny H; Van Beers, Eduard J EJ; Kuo, Kevin H M KHM; Barcellini, Wilma W; Bianchi, Paola P; Glenthøj, Andreas A; Del Mar Mañú Pereira, María M; Van Wijk, Richard R; Glader, Bertil B; Grace, Rachael F RF

Publication Date: 2020-09-01

Variant appearance in text: PKLR: 721G>T; Glu241X

PubMed Link: 33054048

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular heterogeneity of pyruvate kinase deficiency.

Haematologica

Bianchi, Paola P; Fermo, Elisa E

Publication Date: 2020-09-01

Variant appearance in text: PKLR: 721G>T; E241*; rs201953584

PubMed Link: 33054047

Variant Present in the following documents:

• 1052218.pdf

View BVdb publication page

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Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

American Journal Of Hematology

Bianchi, Paola P; Fermo, Elisa E; Lezon-Geyda, Kimberly K; van Beers, Eduard J EJ; Morton, Holmes D HD; Barcellini, Wilma W; Glader, Bertil B; Chonat, Satheesh S; Ravindranath, Yaddanapudi Y; Newburger, Peter E PE; Kollmar, Nina N; Despotovic, Jenny M JM; Verhovsek, Madeleine M; Sharma, Mukta M; Kwiatkowski, Janet L JL; Kuo, Kevin H M KHM; Wlodarski, Marcin W MW; Yaish, Hassan M HM; Holzhauer, Susanne S; Wang, Heng H; Kunz, Joachim J; Addonizio, Kathryn K; Al-Sayegh, Hasan H; London, Wendy B WB; Andres, Oliver O; van Wijk, Richard R; Gallagher, Patrick G PG; Grace, Rachael F F RFF

Publication Date: 2020-05

Variant appearance in text: PKLR: E241X

PubMed Link: 32043619

Variant Present in the following documents:

• Main text

View BVdb publication page

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AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.

Haematologica

Rab, Minke A E MAE; Van Oirschot, Brigitte A BA; Kosinski, Penelope A PA; Hixon, Jeffrey J; Johnson, Kendall K; Chubukov, Victor V; Dang, Lenny L; Pasterkamp, Gerard G; Van Straaten, Stephanie S; Van Solinge, Wouter W WW; Van Beers, Eduard J EJ; Kung, Charles C; Van Wijk, Richard R

Publication Date: 2021-01-01

Variant appearance in text: PKLR: 721G>T; Glu241*

PubMed Link: 31974203

Variant Present in the following documents:

• 106238.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PKLR: 721G>T; Glu241*; rs201953584

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: PKLR: E241X; rs201953584

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure.

Plos One

Del Rey, Javier J; Vidal, Francisco F; Ramírez, Lorena L; Borràs, Nina N; Corrales, Irene I; Garcia, Iris I; Martinez-Pasarell, Olga O; Fernandez, Silvia F SF; Garcia-Cruz, Raquel R; Pujol, Aïda A; Plaja, Alberto A; Salaverria, Itziar I; Oliver-Bonet, Maria M; Benet, Jordi J; Navarro, Joaquima J

Publication Date: 2018

Variant appearance in text: PKLR: 721G>T; Glu241Ter

PubMed Link: 30332465

Variant Present in the following documents:

• Main text
• pone.0205692.pdf

View BVdb publication page

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Novel mutations associated with pyruvate kinase deficiency in Brazil.

Revista Brasileira De Hematologia E Hemoterapia

Svidnicki, Maria Carolina Costa Melo MCCM; Santos, Andrey A; Fernandez, Jhonathan Angel Araujo JAA; Yokoyama, Ana Paula Hitomi APH; Magalhães, Isis Quezado IQ; Pinheiro, Vitoria Regia Pereira VRP; Brandalise, Silvia Regina SR; Silveira, Paulo Augusto Achucarro PAA; Costa, Fernando Ferreira FF; Saad, Sara Teresinha Olalla STO

Publication Date: 2018

Variant appearance in text: PKLR: 721G>T

PubMed Link: 29519373

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

British Journal Of Haematology

Roy, Noémi B A NB; Wilson, Edward A EA; Henderson, Shirley S; Wray, Katherine K; Babbs, Christian C; Okoli, Steven S; Atoyebi, Wale W; Mixon, Avery A; Cahill, Mary R MR; Carey, Peter P; Cullis, Jonathan J; Curtin, Julie J; Dreau, Helene H; Ferguson, David J P DJ; Gibson, Brenda B; Hall, Georgina G; Mason, Joanne J; Morgan, Mary M; Proven, Melanie M; Qureshi, Amrana A; Sanchez Garcia, Joaquin J; Sirachainan, Nongnuch N; Teo, Juliana J; Tedgård, Ulf U; Higgs, Doug D; Roberts, David D; Roberts, Irene I; Schuh, Anna A

Publication Date: 2016-10

Variant appearance in text: PKLR: Glu241Ter

PubMed Link: 27432187

Variant Present in the following documents:

• Main text
• BJH-175-318.pdf

View BVdb publication page

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