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: ALG1: 773C>T; Ser258Leu

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: ALG1: S258L; rs28939378

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

Frontiers In Pediatrics

Lipiński, Patryk P; Bogdańska, Anna A; Socha, Piotr P; Tylki-Szymańska, Anna A

Publication Date: 2021

Variant appearance in text: ALG1: 773C>T; Ser258Leu

PubMed Link: 34291020

Variant Present in the following documents:

• Main text
• fped-09-696918.pdf

View BVdb publication page

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Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.

Molecular Genetics And Metabolism Reports

Lipiński, Patryk P; Bogdańska, Anna A; Tylki-Szymańska, Anna A

Publication Date: 2021-06

Variant appearance in text: ALG1: Ser258Leu

PubMed Link: 33643843

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Orphanet Journal Of Rare Diseases

Bogdańska, Anna A; Lipiński, Patryk P; Szymańska-Rożek, Paulina P; Jezela-Stanek, Aleksandra A; Rokicki, Dariusz D; Socha, Piotr P; Tylki-Szymańska, Anna A

Publication Date: 2021-01-06

Variant appearance in text: ALG1: Ser258Leu

PubMed Link: 33407696

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1657.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: ALG1: 773C>T; Ser258Leu; rs28939378

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ALG1: 773C>T; Ser258Leu

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s005.xlsx, sheet 1
• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ALG1: 773C>T; Ser258Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ALG1: 773C>T; Ser258Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2017-05-30

Variant appearance in text: ALG1: S258L

PubMed Link: 28554332

Variant Present in the following documents:

• Main text
• 13073_2017_Article_433.pdf
• 13073_2017_433_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Harshman, Lyndsay A LA; Ng, Bobby G BG; Freeze, Hudson H HH; Trapane, Pamela P; Dolezal, Anna A; Brophy, Patrick D PD; Brumbaugh, Jane E JE

Publication Date: 2016-08

Variant appearance in text: ALG1: 773C>T; S258L; rs28939378

PubMed Link: 27325525

Variant Present in the following documents:

• Main text

View BVdb publication page

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Human Mutation

Ng, Bobby G BG; Shiryaev, Sergey A SA; Rymen, Daisy D; Eklund, Erik A EA; Raymond, Kimiyo K; Kircher, Martin M; Abdenur, Jose E JE; Alehan, Fusun F; Midro, Alina T AT; Bamshad, Michael J MJ; Barone, Rita R; Berry, Gerard T GT; Brumbaugh, Jane E JE; Buckingham, Kati J KJ; Clarkson, Katie K; Cole, F Sessions FS; O'Connor, Shawn S; Cooper, Gregory M GM; Van Coster, Rudy R; Demmer, Laurie A LA; Diogo, Luisa L; Fay, Alexander J AJ; Ficicioglu, Can C; Fiumara, Agata A; Gahl, William A WA; Ganetzky, Rebecca R; Goel, Himanshu H; Harshman, Lyndsay A LA; He, Miao M; Jaeken, Jaak J; James, Philip M PM; Katz, Daniel D; Keldermans, Liesbeth L; Kibaek, Maria M; Kornberg, Andrew J AJ; Lachlan, Katherine K; Lam, Christina C; Yaplito-Lee, Joy J; Nickerson, Deborah A DA; Peters, Heidi L HL; Race, Valerie V; Régal, Luc L; Rush, Jeffrey S JS; Rutledge, S Lane SL; Shendure, Jay J; Souche, Erika E; Sparks, Susan E SE; Trapane, Pamela P; Sanchez-Valle, Amarilis A; Vilain, Eric E; Vøllo, Arve A; Waechter, Charles J CJ; Wang, Raymond Y RY; Wolfe, Lynne A LA; Wong, Derek A DA; Wood, Tim T; Yang, Amy C AC; , ; Matthijs, Gert G; Freeze, Hudson H HH

Publication Date: 2016-07

Variant appearance in text: ALG1: 773C>T; Ser258Leu; rs28939378

PubMed Link: 26931382

Variant Present in the following documents:

• Main text

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: CDG1K: S258L; rs28939378

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.

Cytotechnology

Takahashi, Tetsuo T; Nedachi, Takashi T; Etoh, Takuya T; Tachikawa, Hiroyuki H; Gao, Xiao-Dong XD

Publication Date: 2017-06

Variant appearance in text: ALG1: S258L

PubMed Link: 26608959

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Clinical Chemistry

Zhang, Wenyue W; James, Philip M PM; Ng, Bobby G BG; Li, Xueli X; Xia, Baoyun B; Rong, Jiang J; Asif, Ghazia G; Raymond, Kimiyo K; Jones, Melanie A MA; Hegde, Madhuri M; Ju, Tongzhong T; Cummings, Richard D RD; Clarkson, Katie K; Wood, Tim T; Boerkoel, Cornelius F CF; Freeze, Hudson H HH; He, Miao M

Publication Date: 2016-01

Variant appearance in text: ALG1: 773C>T; S258L

PubMed Link: 26430078

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ALG1: S258L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: ALG1: S258L; rs28939378

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

European Journal Of Human Genetics : Ejhg

Jaeken, Jaak J; Lefeber, Dirk D; Matthijs, Gert G

Publication Date: 2015-10

Variant appearance in text: ALG1: 773C>T; Ser258Leu

PubMed Link: 25649379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: ALG1: 773C>T; S258L

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: ALG1: 773C>T; S258L; rs28939378

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

American Journal Of Human Genetics

Kranz, Christian C; Denecke, Jonas J; Lehle, Ludwig L; Sohlbach, Kristina K; Jeske, Stefanie S; Meinhardt, Friedhelm F; Rossi, Rainer R; Gudowius, Sonja S; Marquardt, Thorsten T

Publication Date: 2004-03

Variant appearance in text:

PubMed Link: 14973782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

American Journal Of Human Genetics

Schwarz, Markus M; Thiel, Christian C; Lübbehusen, Jürgen J; Dorland, Bert B; de Koning, Tom T; von Figura, Kurt K; Lehle, Ludwig L; Körner, Christian C

Publication Date: 2004-03

Variant appearance in text: ALG1: Ser258Leu

PubMed Link: 14973778

Variant Present in the following documents:

• Main text

View BVdb publication page

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