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: DGAT1: 751+2T>C

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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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: rs148665132

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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Genetic Variations of Vitamin A-Absorption and Storage-Related Genes, and Their Potential Contribution to Vitamin A Deficiency Risks Among Different Ethnic Groups.

Frontiers In Nutrition

Suzuki, Masako M; Tomita, Meika M

Publication Date: 2022

Variant appearance in text: rs148665132

PubMed Link: 35571879

Variant Present in the following documents:

• Main text
• fnut-09-861619.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: rs148665132

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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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: DGAT1: 751+2T>C

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: DGAT1: 751+2T>C; rs148665132

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: DGAT1: 751+2T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

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

Alaimo, Joseph T JT; Glinton, Kevin E KE; Liu, Ning N; Xiao, Jing J; Yang, Yaping Y; Reid Sutton, V V; Elsea, Sarah H SH

Publication Date: 2020-09

Variant appearance in text: DGAT: 751+2T>C

PubMed Link: 32439973

Variant Present in the following documents:

• NIHMS1603460-supplement-Supplemental_Data.xlsx, sheet 2

View BVdb publication page

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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research

Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM

Publication Date: 2020-03

Variant appearance in text: DGAT1: 751+2T>C

PubMed Link: 31618753

Variant Present in the following documents:

• NIHMS1541080-supplement-Supp_Tables_1-2.xlsx, sheet 1

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: DGAT1: 751+2T>C; rs148665132

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: rs148665132

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Autozygome and high throughput confirmation of disease genes candidacy.

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

Maddirevula, Sateesh S; Alzahrani, Fatema F; Al-Owain, Mohammed M; Al Muhaizea, Mohammad A MA; Kayyali, Husam R HR; AlHashem, Amal A; Rahbeeni, Zuhair Z; Al-Otaibi, Maha M; Alzaidan, Hamad I HI; Balobaid, Ameera A; El Khashab, Heba Y HY; Bubshait, Dalal K DK; Faden, Maha M; Yamani, Suad Al SA; Dabbagh, Omar O; Al-Mureikhi, Mariam M; Jasser, Abdulla Al AA; Alsaif, Hessa S HS; Alluhaydan, Iram I; Seidahmed, Mohammed Zain MZ; Alabbasi, Bashair Hamza BH; Almogarri, Ibrahim I; Kurdi, Wesam W; Akleh, Hana H; Qari, Alya A; Al Tala, Saeed M SM; Alhomaidi, Suzan S; Kentab, Amal Y AY; Salih, Mustafa A MA; Chedrawi, Aziza A; Alameer, Seham S; Tabarki, Brahim B; Shamseldin, Hanan E HE; Patel, Nisha N; Ibrahim, Niema N; Abdulwahab, Firdous F; Samira, Menasria M; Goljan, Ewa E; Abouelhoda, Mohamed M; Meyer, Brian F BF; Hashem, Mais M; Shaheen, Ranad R; AlShahwan, Saad S; Alfadhel, Majid M; Ben-Omran, Tawfeg T; Al-Qattan, Mohammad M MM; Monies, Dorota D; Alkuraya, Fowzan S FS

Publication Date: 2019-03

Variant appearance in text: DGAT1: 751+2T>C

PubMed Link: 30237576

Variant Present in the following documents:

• 41436_2018_138_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology

van Rijn, Jorik M JM; Ardy, Rico Chandra RC; Kuloğlu, Zarife Z; Härter, Bettina B; van Haaften-Visser, Désirée Y DY; van der Doef, Hubert P J HPJ; van Hoesel, Marliek M; Kansu, Aydan A; van Vugt, Anke H M AHM; Thian, Marini M; Kokke, Freddy T M FTM; Krolo, Ana A; Başaran, Meryem Keçeli MK; Kaya, Neslihan Gurcan NG; Aksu, Aysel Ünlüsoy AÜ; Dalgıç, Buket B; Ozcay, Figen F; Baris, Zeren Z; Kain, Renate R; Stigter, Edwin C A ECA; Lichtenbelt, Klaske D KD; Massink, Maarten P G MPG; Duran, Karen J KJ; Verheij, Joke B G M JBGM; Lugtenberg, Dorien D; Nikkels, Peter G J PGJ; Brouwer, Henricus G F HGF; Verkade, Henkjan J HJ; Scheenstra, René R; Spee, Bart B; Nieuwenhuis, Edward E S EES; Coffer, Paul J PJ; Janecke, Andreas R AR; van Haaften, Gijs G; Houwen, Roderick H J RHJ; Müller, Thomas T; Middendorp, Sabine S; Boztug, Kaan K

Publication Date: 2018-07

Variant appearance in text: DGAT1: 751+2T>C

PubMed Link: 29604290

Variant Present in the following documents:

• Main text

View BVdb publication page

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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.

European Journal Of Human Genetics : Ejhg

Stephen, Joshi J; Vilboux, Thierry T; Haberman, Yael Y; Pri-Chen, Hadass H; Pode-Shakked, Ben B; Mazaheri, Sina S; Marek-Yagel, Dina D; Barel, Ortal O; Di Segni, Ayelet A; Eyal, Eran E; Hout-Siloni, Goni G; Lahad, Avishay A; Shalem, Tzippora T; Rechavi, Gideon G; Malicdan, May Christine V MC; Weiss, Batia B; Gahl, William A WA; Anikster, Yair Y

Publication Date: 2016-08

Variant appearance in text: rs148665132

PubMed Link: 26883093

Variant Present in the following documents:

• Main text

View BVdb publication page

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