Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs17124706

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs17124706

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2022-04-20

Variant appearance in text: rs17124706

PubMed Link: 35443759

Variant Present in the following documents:

• 41467_2022_29921_MOESM1_ESM.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: LARP4: F351L; rs17124706

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs17124706

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM1_ESM.pdf

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs17124706

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM1_ESM.pdf

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: LARP4: 1053T>A; Phe351Leu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs17124706

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: N/A

PubMed Link: 30784590

Variant Present in the following documents:

View BVdb publication page

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iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Cell Death & Disease

Melguizo-Sanchis, Dario D; Xu, Yaobo Y; Taheem, Dheraj D; Yu, Min M; Tilgner, Katarzyna K; Barta, Tomas T; Gassner, Katja K; Anyfantis, George G; Wan, Tengfei T; Elango, Ramu R; Alharthi, Sameer S; El-Harouni, Ashraf A AA; Przyborski, Stefan S; Adam, Soheir S; Saretzki, Gabriele G; Samarasinghe, Sujith S; Armstrong, Lyle L; Lako, Majlinda M

Publication Date: 2018-01-26

Variant appearance in text: LARP4: F351L; rs17124706

PubMed Link: 29374141

Variant Present in the following documents:

• 41419_2017_141_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: LARP4: F351L; rs17124706

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs17124706

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs17124706

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs17124706

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 9
• pone.0123569.s008.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: LARP4: F351L; rs17124706

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: rs17124706

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22

View BVdb publication page

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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: rs17124706

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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