Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: GARS: T268I

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: GARS1: T268I

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Cellular & Molecular Immunology

Lehmkuhl, Peter P; Gentz, Magdalena M; Garcia de Otezya, Andres Caballero AC; Grimbacher, Bodo B; Schulze-Koops, Hendrik H; Skapenko, Alla A

Publication Date: 2021-07

Variant appearance in text: rs2230310

PubMed Link: 34059789

Variant Present in the following documents:

• 41423_2021_701_MOESM3_ESM.xlsx, sheet 2
• 41423_2021_701_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Journal Of Clinical Medicine

Pensato, Viviana V; Magri, Stefania S; Bella, Eleonora Dalla ED; Tannorella, Pierpaola P; Bersano, Enrica E; Sorarù, Gianni G; Gatti, Marta M; Ticozzi, Nicola N; Taroni, Franco F; Lauria, Giuseppe G; Mariotti, Caterina C; Gellera, Cinzia C

Publication Date: 2020-02-03

Variant appearance in text: GARS: 803C>T; rs2230310

PubMed Link: 32028661

Variant Present in the following documents:

• Main text
• jcm-09-00412-s001.pdf
• jcm-09-00412.pdf

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: GARS: 803C>T

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: GARS: T268I

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: GARS: T268I; rs2230310

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Aminoacyl-tRNA synthetase deficiencies in search of common themes.

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

Fuchs, Sabine A SA; Schene, Imre F IF; Kok, Gautam G; Jansen, Jurriaan M JM; Nikkels, Peter G J PGJ; van Gassen, Koen L I KLI; Terheggen-Lagro, Suzanne W J SWJ; van der Crabben, Saskia N SN; Hoeks, Sanne E SE; Niers, Laetitia E M LEM; Wolf, Nicole I NI; de Vries, Maaike C MC; Koolen, David A DA; Houwen, Roderick H J RHJ; Mulder, Margot F MF; van Hasselt, Peter M PM

Publication Date: 2019-02

Variant appearance in text: GARS: Thr268Ile

PubMed Link: 29875423

Variant Present in the following documents:

• 41436_2018_48_MOESM3_ESM.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: GARS: T268I; rs2230310

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Plos One

Nafisinia, Michael M; Riley, Lisa G LG; Gold, Wendy A WA; Bhattacharya, Kaustuv K; Broderick, Carolyn R CR; Thorburn, David R DR; Simons, Cas C; Christodoulou, John J

Publication Date: 2017

Variant appearance in text: GARS: 803C>T; rs2230310

PubMed Link: 28594869

Variant Present in the following documents:

• Main text
• pone.0178125.pdf

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: GARS: 803C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: GARS: T268I; rs2230310

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 6

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: rs2230310

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Bmc Medical Genetics

Antoniadi, Thalia T; Buxton, Chris C; Dennis, Gemma G; Forrester, Natalie N; Smith, Debbie D; Lunt, Peter P; Burton-Jones, Sarah S

Publication Date: 2015-09-21

Variant appearance in text: rs2230310

PubMed Link: 26392352

Variant Present in the following documents:

• 12881_2015_224_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Cell Reports

Gonzaga-Jauregui, Claudia C; Harel, Tamar T; Gambin, Tomasz T; Kousi, Maria M; Griffin, Laurie B LB; Francescatto, Ludmila L; Ozes, Burcak B; Karaca, Ender E; Jhangiani, Shalini N SN; Bainbridge, Matthew N MN; Lawson, Kim S KS; Pehlivan, Davut D; Okamoto, Yuji Y; Withers, Marjorie M; Mancias, Pedro P; Slavotinek, Anne A; Reitnauer, Pamela J PJ; Goksungur, Meryem T MT; Shy, Michael M; Crawford, Thomas O TO; Koenig, Michel M; Willer, Jason J; Flores, Brittany N BN; Pediaditrakis, Igor I; Us, Onder O; Wiszniewski, Wojciech W; Parman, Yesim Y; Antonellis, Anthony A; Muzny, Donna M DM; , ; Katsanis, Nicholas N; Battaloglu, Esra E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR

Publication Date: 2015-08-18

Variant appearance in text: GARS: T268I

PubMed Link: 26257172

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: GARS: T268I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: GARS: T268I; rs2230310

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, 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: GARS: T268I; rs2230310

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: GARS: T268I; rs2230310

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25

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: GARS: T268I

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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