Publications:

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: SUGCT: 1006C>T; Arg336Trp

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

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: SUGCT: R336W; rs137852860

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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A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

The Journal Of Biological Chemistry

Ygberg, Sofia S; Akkuratov, Evgeny E EE; Howard, Rebecca J RJ; Taylan, Fulya F; Jans, Daniel C DC; Mahato, Dhani R DR; Katz, Adriana A; Kinoshita, Paula F PF; Portal, Benjamin B; Nennesmo, Inger I; Lindskog, Maria M; Karlish, Steven J D SJD; Andersson, Magnus M; Lindstrand, Anna A; Brismar, Hjalmar H; Aperia, Anita A

Publication Date: 2021-10-28

Variant appearance in text: rs137852860

PubMed Link: 34717959

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

The Journal Of Biological Chemistry

Ygberg, Sofia S; Akkuratov, Evgeny E EE; Howard, Rebecca J RJ; Taylan, Fulya F; Jans, Daniel C DC; Mahato, Dhani R DR; Katz, Adriana A; Kinoshita, Paula F PF; Portal, Benjamin B; Nennesmo, Inger I; Lindskog, Maria M; Karlish, Steven J D SJD; Andersson, Magnus M; Lindstrand, Anna A; Brismar, Hjalmar H; Aperia, Anita A

Publication Date: 2021-12

Variant appearance in text: rs137852860

PubMed Link: 34717959

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: SUGCT: Arg336Trp; rs137852860

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Effect of SNPs on Litter Traits in Pigs.

Scientifica

Getmantseva, Lyubov V LV; Bakoev, Siroj Yu SY; Shevtsova, Varvara S VS; Kolosov, Anatoly Yu AY; Bakoev, Neckruz F NF; Kolosova, Maria A MA

Publication Date: 2020

Variant appearance in text: C7orf10: Arg336Trp

PubMed Link: 32802554

Variant Present in the following documents:

• Main text
• SCIENTIFICA2020-5243689.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: SUGCT: 1006C>T; Arg336Trp; rs137852860

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SUGCT: 1006C>T; Arg336Trp; rs137852860

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Knockout of the non-essential gene SUGCT creates diet-linked, age-related microbiome disbalance with a diabetes-like metabolic syndrome phenotype.

Cellular And Molecular Life Sciences : Cmls

Niska-Blakie, Joanna J; Gopinathan, Lakshmi L; Low, Kia Ngee KN; Kien, Yang Lay YL; Goh, Christine M F CMF; Caldez, Matias J MJ; Pfeiffenberger, Elisabeth E; Jones, Oliver S OS; Ong, Chee Bing CB; Kurochkin, Igor V IV; Coppola, Vincenzo V; Tessarollo, Lino L; Choi, Hyungwon H; Kanagasundaram, Yoganathan Y; Eisenhaber, Frank F; Maurer-Stroh, Sebastian S; Kaldis, Philipp P

Publication Date: 2020-09

Variant appearance in text: SUGCT: Arg336Trp

PubMed Link: 31722069

Variant Present in the following documents:

• Main text
• 18_2019_Article_3359.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: SUGCT: 1006C>T; Arg336Trp; rs137852860

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: SUGCT: 1006C>T; Arg336Trp; rs137852860

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Jimd Reports

Waters, Paula J PJ; Kitzler, Thomas M TM; Feigenbaum, Annette A; Geraghty, Michael T MT; Al-Dirbashi, Osama O; Bherer, Patrick P; Auray-Blais, Christiane C; Gravel, Serge S; McIntosh, Nathan N; Siriwardena, Komudi K; Trakadis, Yannis Y; Brunel-Guitton, Catherine C; Al-Hertani, Walla W

Publication Date: 2018

Variant appearance in text: SUGCT: 1006C>T; rs137852860

PubMed Link: 28766179

Variant Present in the following documents:

• Main text

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: C7orf10: 1006C>T; rs137852860

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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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: C7orf10: R336W

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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