Publications:

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Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE

Publication Date: 2022-11-21

Variant appearance in text: SLC7A9: Gly105Arg

PubMed Link: 36414972

Variant Present in the following documents:

• 13073_2022_1139_MOESM1_ESM.xlsx, sheet 1
• 13073_2022_Article_1139.pdf

View BVdb publication page

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Cystinuria: An Overview of Diagnosis and Medical Management.

Turkish Archives Of Pediatrics

Sadiq, Sanober S; Cil, Onur O

Publication Date: 2022-07

Variant appearance in text: SLC7A9: Gly105Arg

PubMed Link: 35822468

Variant Present in the following documents:

• Main text
• tap-57-4-377.pdf

View BVdb publication page

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Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.

Nature Communications

Lee, Yongchan Y; Wiriyasermkul, Pattama P; Kongpracha, Pornparn P; Moriyama, Satomi S; Mills, Deryck J DJ; Kühlbrandt, Werner W; Nagamori, Shushi S

Publication Date: 2022-05-16

Variant appearance in text: SLC7A9: G105R

PubMed Link: 35577790

Variant Present in the following documents:

• Main text
• 41467_2022_30293_MOESM1_ESM.pdf
• 41467_2022_Article_30293.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: SLC7A9: 313G>A; Gly105Arg; rs121908480

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

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: SLC7A9: G105R; rs121908480

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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Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Kidney International Reports

Cogal, Andrea G AG; Arroyo, Jennifer J; Shah, Ronak Jagdeep RJ; Reese, Kalina J KJ; Walton, Brenna N BN; Reynolds, Laura M LM; Kennedy, Gabrielle N GN; Seide, Barbara M BM; Senum, Sarah R SR; Baum, Michelle M; Erickson, Stephen B SB; Jagadeesh, Sujatha S; Soliman, Neveen A NA; Goldfarb, David S DS; Beara-Lasic, Lada L; Edvardsson, Vidar O VO; Palsson, Runolfur R; Milliner, Dawn S DS; Sas, David J DJ; Lieske, John C JC; Harris, Peter C PC; ,

Publication Date: 2021-11

Variant appearance in text: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 34805638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: SLC7A9: 313G>A; G105R

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Frontiers In Pediatrics

Alghamdi, Malak M; Alhasan, Khalid A KA; Taha Elawad, Areej A; Salim, Suha S; Abdelhakim, Marwa M; Nashabat, Marwan M; Raina, Rupesh R; Kari, Jameela J; Alfadhel, Majid M

Publication Date: 2020

Variant appearance in text: SLC7A9: Gly105arg

PubMed Link: 33262960

Variant Present in the following documents:

• Main text
• fped-08-569389.pdf

View BVdb publication page

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Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Journal Of Nephrology

Vaisitti, Tiziana T; Sorbini, Monica M; Callegari, Martina M; Kalantari, Silvia S; Bracciamà, Valeria V; Arruga, Francesca F; Vanzino, Silvia Bruna SB; Rendine, Sabina S; Togliatto, Gabriele G; Giachino, Daniela D; Pelle, Alessandra A; Cocchi, Enrico E; Benvenuta, Chiara C; Baldovino, Simone S; Rollino, Cristiana C; Fenoglio, Roberta R; Sciascia, Savino S; Tamagnone, Michela M; Vitale, Corrado C; Calabrese, Giovanni G; Biancone, Luigi L; Bussolino, Stefania S; Savoldi, Silvana S; Borzumati, Maurizio M; Cantaluppi, Vincenzo V; Chiappero, Fabio F; Ungari, Silvana S; Peruzzi, Licia L; Roccatello, Dario D; Amoroso, Antonio A; Deaglio, Silvia S

Publication Date: 2021-10

Variant appearance in text: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 33226606

Variant Present in the following documents:

• 40620_2020_Article_898.pdf

View BVdb publication page

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Structural basis for amino acid exchange by a human heteromeric amino acid transporter.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wu, Di D; Grund, Tamara N TN; Welsch, Sonja S; Mills, Deryck J DJ; Michel, Max M; Safarian, Schara S; Michel, Hartmut H

Publication Date: 2020-09-01

Variant appearance in text: SLC7A9: Gly105Arg

PubMed Link: 32817565

Variant Present in the following documents:

• Main text

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: SLC7A9: 313G>A; Gly105Arg; rs121908480

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: SLC7A9: G105R; rs121908480

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: SLC7A9: G105R

PubMed Link: 28812535

Variant Present in the following documents:

• Main text
• 12864_2017_3913_MOESM1_ESM.xlsx, sheet 9
• 12864_2017_Article_3913.pdf

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: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 28717662

Variant Present in the following documents:

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

View BVdb publication page

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Delineation of cystinuria in Saudi Arabia: A case series.

Bmc Nephrology

Obaid, Abdulrahman A; Nashabat, Marwan M; Al Fakeeh, Khalid K; Al Qahtani, Abdullah T AT; Alfadhel, Majid M

Publication Date: 2017-02-06

Variant appearance in text: SLC7A9: G105R

PubMed Link: 28166740

Variant Present in the following documents:

• Main text
• 12882_2017_Article_469.pdf

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: rs121908480

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: SLC7A9: G105R

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: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 25964309

Variant Present in the following documents:

• Main text

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: SLC7A9: 313G>A; Gly105Arg

PubMed Link: 25296721

Variant Present in the following documents:

• Main text

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: SLC7A9: Gly105Arg

PubMed Link: 22480232

Variant Present in the following documents:

• Main text
• 1750-1172-7-19.pdf

View BVdb publication page

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