Publications:

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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: SLC3A1: R452W; rs201502095

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical profile of a Polish cohort of children and young adults with cystinuria.

Renal Failure

Tkaczyk, Marcin M; Gadomska-Prokop, Katarzyna K; Załuska-Leśniewska, Iga I; Musiał, Kinga K; Zawadzki, Jan J; Jobs, Katarzyna K; Porowski, Tadeusz T; Rogowska-Kalisz, Anna A; Jander, Anna A; Kirolos, Meritrafat M; Haliński, Adam A; Krzemień, Aleksandra A; Sobieszczańska-Droździel, Agnieszka A; Zachwieja, Katarzyna K; Beck, Bodo B BB; Sikora, Przemysław P; Zaniew, Marcin M

Publication Date: 2021-12

Variant appearance in text: SLC3A1: 1354C>T

PubMed Link: 33349102

Variant Present in the following documents:

• IRNF_43_1860089.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: SLC3A1: 1354C>T

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.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: SLC3A1: 1354C>T; Arg452Trp; rs201502095

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: SLC3A1: 1354C>T; Arg452Trp

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.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: SLC3A1: R452W; rs201502095

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

Bmc Genomics

Martell, Henry J HJ; Wong, Kathie A KA; Martin, Juan F JF; Kassam, Ziyan Z; Thomas, Kay K; Wass, Mark N MN

Publication Date: 2017-08-11

Variant appearance in text: SLC3A1: Arg452Trp

PubMed Link: 28812535

Variant Present in the following documents:

• Main text
• 12864_2017_3913_MOESM1_ESM.xlsx, sheet 10

View BVdb publication page

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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Molecular Genetics & Genomic Medicine

Gaildrat, Pascaline P; Lebbah, Said S; Tebani, Abdellah A; Sudrié-Arnaud, Bénédicte B; Tostivint, Isabelle I; Bollee, Guillaume G; Tubeuf, Hélène H; Charles, Thomas T; Bertholet-Thomas, Aurelia A; Goldenberg, Alice A; Barbey, Frederic F; Martins, Alexandra A; Saugier-Veber, Pascale P; Frébourg, Thierry T; Knebelmann, Bertrand B; Bekri, Soumeya S

Publication Date: 2017-07

Variant appearance in text: SLC3A1: 1354C>T; Arg452Trp

PubMed Link: 28717662

Variant Present in the following documents:

• Main text
• MGG3-5-373-s003.pdf
• MGG3-5-373.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: SLC3A1: R452W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: SLC3A1: R452W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Rhodes, Hannah L HL; Yarram-Smith, Laura L; Rice, Sarah J SJ; Tabaksert, Ayla A; Edwards, Noel N; Hartley, Alice A; Woodward, Mark N MN; Smithson, Sarah L SL; Tomson, Charles C; Welsh, Gavin I GI; Williams, Margaret M; Thwaites, David T DT; Sayer, John A JA; Coward, Richard J M RJ

Publication Date: 2015-07-07

Variant appearance in text: SLC3A1: 1354C>T; Arg452Trp

PubMed Link: 25964309

Variant Present in the following documents:

• Main text

View BVdb publication page

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Feline cystinuria caused by a missense mutation in the SLC3A1 gene.

Journal Of Veterinary Internal Medicine

Mizukami, K K; Raj, K K; Giger, U U

Publication Date: 2015-01

Variant appearance in text: SLC3A1: Arg452Trp; rs201502095

PubMed Link: 25417848

Variant Present in the following documents:

• Main text
• JVIM-29-120.pdf

View BVdb publication page

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Journal Of The American Society Of Nephrology : Jasn

Halbritter, Jan J; Baum, Michelle M; Hynes, Ann Marie AM; Rice, Sarah J SJ; Thwaites, David T DT; Gucev, Zoran S ZS; Fisher, Brittany B; Spaneas, Leslie L; Porath, Jonathan D JD; Braun, Daniela A DA; Wassner, Ari J AJ; Nelson, Caleb P CP; Tasic, Velibor V; Sayer, John A JA; Hildebrandt, Friedhelm F

Publication Date: 2015-03

Variant appearance in text: SLC3A1: 1354C>T; Arg452Trp

PubMed Link: 25296721

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SLC3A1: R452W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Cystinuria: an inborn cause of urolithiasis.

Orphanet Journal Of Rare Diseases

Eggermann, Thomas T; Venghaus, Andreas A; Zerres, Klaus K

Publication Date: 2012-04-05

Variant appearance in text: SLC3A1: Arg452Trp

PubMed Link: 22480232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SLC3A1: R452W

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

View BVdb publication page

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