Publications:

---

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Blood Advances

Jadhao, Sudhir S; Davison, Candice C; Roulis, Eileen V EV; Lee, Simon S; Lacaze, Paul P; Riaz, Moeen M; McNeil, John J JJ; Thomas, David M DM; Pecheniuk, Natalie M NM; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-08-09

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 35420653

Variant Present in the following documents:

• mmc1.xlsx, sheet 5

View BVdb publication page

---

Deferasirox-induced robust and dose-dependent reversal of anemia in a patient with variants in the TRIB2 and ABCB6 genes.

Blood Advances

Stomper, Julia J; Richter-Pechanska, Paulina P; Pfeifer, Dietmar D; Andolfo, Immacolata I; Iolascon, Achille A; Muckenthaler, Martina U MU; Lübbert, Michael M

Publication Date: 2022-06-14

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 35320338

Variant Present in the following documents:

• Main text
• advancesADV2021006277.pdf

View BVdb publication page

---

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: ABCB6: R192Q; rs150221689

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine

Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-01-13

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 35033986

Variant Present in the following documents:

• mmc2.xlsx, sheet 13
• mmc3.xlsx, sheet 11

View BVdb publication page

---

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine

Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-02

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 35033986

Variant Present in the following documents:

• mmc3.xlsx, sheet 11
• mmc2.xlsx, sheet 13

View BVdb publication page

---

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Blood Advances

Farrell, Colin P CP; Nicolas, Gäel G; Desnick, Robert J RJ; Parker, Charles J CJ; Lamoril, Jerome J; Gouya, Laurent L; Karim, Zoubida Z; Tchernitchko, Dimitri D; Chan, Brenden B; Puy, Herve H; Phillips, John D JD

Publication Date: 2022-02-08

Variant appearance in text: ABCB6: R192Q

PubMed Link: 34724702

Variant Present in the following documents:

• Main text
• advancesADV2021005484-suppl1.pdf
• advancesADV2021005484.pdf

View BVdb publication page

---

Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: ABCB6: 549+343G>A; R192Q

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

---

Molecular insights into the human ABCB6 transporter.

Cell Discovery

Song, Guangyuan G; Zhang, Sensen S; Tian, Mengqi M; Zhang, Laixing L; Guo, Runyu R; Zhuo, Wei W; Yang, Maojun M

Publication Date: 2021-07-27

Variant appearance in text: ABCB6: R192Q

PubMed Link: 34312373

Variant Present in the following documents:

• Main text
• 41421_2021_Article_284.pdf

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs150221689

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

ABCB6, an ABC Transporter Impacting Drug Response and Disease.

The Aaps Journal

Boswell-Casteel, Rebba C RC; Fukuda, Yu Y; Schuetz, John D JD

Publication Date: 2017-11-30

Variant appearance in text: ABCB6: R192Q

PubMed Link: 29192381

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

---

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Nature Communications

Fukuda, Yu Y; Cheong, Pak Leng PL; Lynch, John J; Brighton, Cheryl C; Frase, Sharon S; Kargas, Vasileios V; Rampersaud, Evadnie E; Wang, Yao Y; Sankaran, Vijay G VG; Yu, Bing B; Ney, Paul A PA; Weiss, Mitchell J MJ; Vogel, Peter P; Bond, Peter J PJ; Ford, Robert C RC; Trent, Ronald J RJ; Schuetz, John D JD

Publication Date: 2016-08-10

Variant appearance in text: ABCB6: 575G>A; R192Q

PubMed Link: 27507172

Variant Present in the following documents:

• Main text
• ncomms12353-s1.pdf
• ncomms12353.pdf

View BVdb publication page

---

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: ABCB6: 575G>A; R192Q; rs150221689

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: ABCB6: R192Q

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.

Plos One

Koszarska, Magdalena M; Kucsma, Nora N; Kiss, Katalin K; Varady, Gyorgy G; Gera, Melinda M; Antalffy, Geza G; Andrikovics, Hajnalka H; Tordai, Attila A; Studzian, Maciej M; Strapagiel, Dominik D; Pulaski, Lukasz L; Tani, Yoshihiko Y; Sarkadi, Balazs B; Szakacs, Gergely G

Publication Date: 2014

Variant appearance in text: ABCB6: 575G>A; Arg192Gln; rs150221689

PubMed Link: 25360778

Variant Present in the following documents:

• Main text
• pone.0111590.pdf

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCB6: R192Q; rs150221689

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

European Journal Of Human Genetics : Ejhg

Prokudin, Ivan I; Simons, Cas C; Grigg, John R JR; Storen, Rebecca R; Kumar, Vikrant V; Phua, Zai Y ZY; Smith, James J; Flaherty, Maree M; Davila, Sonia S; Jamieson, Robyn V RV

Publication Date: 2014-07

Variant appearance in text: ABCB6: 575G>A; Arg192Gln; rs150221689

PubMed Link: 24281366

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One

Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO

Publication Date: 2011

Variant appearance in text: ABCB6: R192Q

PubMed Link: 21701589

Variant Present in the following documents:

• pone.0021097.s002.xls, sheet 3

View BVdb publication page

---