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: SETX: I2547T

PubMed Link: 36928921

Variant Present in the following documents:

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

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: SETX: 7640T>C; I2547T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

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Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Teerlink, Craig C CC; Miller, Justin B JB; Vance, Elizabeth L EL; Staley, Lyndsay A LA; Stevens, Jeffrey J; Tavana, Justina P JP; Cloward, Matthew E ME; Page, Madeline L ML; Dayton, Louisa L; , ; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK

Publication Date: 2022-02

Variant appearance in text: SETX: I2547T

PubMed Link: 34151536

Variant Present in the following documents:

• ALZ-18-307-s002.xlsx, sheet 1

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Genetic analysis of ALS cases in the isolated island population of Malta.

European Journal Of Human Genetics : Ejhg

Borg, Rebecca R; Farrugia Wismayer, Maia M; Bonavia, Karl K; Farrugia Wismayer, Andrew A; Vella, Malcolm M; van Vugt, Joke J F A JJFA; Kenna, Brendan J BJ; Kenna, Kevin P KP; Vassallo, Neville N; Veldink, Jan H JH; Cauchi, Ruben J RJ

Publication Date: 2021-04

Variant appearance in text: SETX: 7640T>C; Ile2547Thr; rs151117904

PubMed Link: 33414559

Variant Present in the following documents:

• Main text
• 41431_2020_Article_767.pdf

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Genetic analysis of ALS cases in the isolated island population of Malta.

European Journal Of Human Genetics : Ejhg

Borg, Rebecca R; Farrugia Wismayer, Maia M; Bonavia, Karl K; Farrugia Wismayer, Andrew A; Vella, Malcolm M; van Vugt, Joke J F A JJFA; Kenna, Brendan J BJ; Kenna, Kevin P KP; Vassallo, Neville N; Veldink, Jan H JH; Cauchi, Ruben J RJ

Publication Date: 2021-04

Variant appearance in text: SETX: 7640T>C; Ile2547Thr; rs151117904

PubMed Link: 33414559

Variant Present in the following documents:

• Main text
• 41431_2020_Article_767.pdf

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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International Journal Of Molecular Sciences

Scarlino, Stefania S; Domi, Teuta T; Pozzi, Laura L; Romano, Alessandro A; Pipitone, Giovanni Battista GB; Falzone, Yuri Matteo YM; Mosca, Lorena L; Penco, Silvana S; Lunetta, Christian C; Sansone, Valeria V; Tremolizzo, Lucio L; Fazio, Raffaella R; Agosta, Federica F; Filippi, Massimo M; Carrera, Paola P; Riva, Nilo N; Quattrini, Angelo A

Publication Date: 2020-05-08

Variant appearance in text: SETX: 7640T>C; rs151117904

PubMed Link: 32397312

Variant Present in the following documents:

• ijms-21-03346-s001.pdf

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Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.

Nucleic Acids Research

Kannan, Annapoorna A; Bhatia, Kanchan K; Branzei, Dana D; Gangwani, Laxman L

Publication Date: 2018-09-19

Variant appearance in text: SETX: I2547T

PubMed Link: 30010942

Variant Present in the following documents:

• Main text
• gky641.pdf

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Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry

Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2018-08

Variant appearance in text: SETX: I2547T

PubMed Link: 29332010

Variant Present in the following documents:

• jnnp-2017-317234supp001.pdf

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Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Molecular Genetics & Genomic Medicine

Garton, Fleur C FC; Benyamin, Beben B; Zhao, Qiongyi Q; Liu, Zhijun Z; Gratten, Jacob J; Henders, Anjali K AK; Zhang, Zong-Hong ZH; Edson, Janette J; Furlong, Sarah S; Morgan, Sarah S; Heggie, Susan S; Thorpe, Kathryn K; Pfluger, Casey C; Mather, Karen A KA; Sachdev, Perminder S PS; McRae, Allan F AF; Robinson, Matthew R MR; Shah, Sonia S; Visscher, Peter M PM; Mangelsdorf, Marie M; Henderson, Robert D RD; Wray, Naomi R NR; McCombe, Pamela A PA

Publication Date: 2017-07

Variant appearance in text: SETX: 7640T>C; Ile2547Thr; rs151117904

PubMed Link: 28717666

Variant Present in the following documents:

• MGG3-5-418-s001.xlsx, sheet 3

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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: SETX: 7640T>C; Ile2547Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Brain : A Journal Of Neurology

Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A

Publication Date: 2017-06-01

Variant appearance in text: SETX: I2547T

PubMed Link: 28430856

Variant Present in the following documents:

• Main text
• awx082_Supp.pdf
• awx082.pdf

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High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Brain And Behavior

Tripolszki, Kornélia K; Török, Dóra D; Goudenège, David D; Farkas, Katalin K; Sulák, Adrienn A; Török, Nóra N; Engelhardt, József I JI; Klivényi, Péter P; Procaccio, Vincent V; Nagy, Nikoletta N; Széll, Márta M

Publication Date: 2017-04

Variant appearance in text: SETX: 7640T>C

PubMed Link: 28413711

Variant Present in the following documents:

• Main text
• BRB3-7-e00669.pdf

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

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

Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M

Publication Date: 2017-09

Variant appearance in text: SETX: I2547T

PubMed Link: 28252636

Variant Present in the following documents:

• NIHMS853380-supplement-supp_table1.xlsx, sheet 1

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: SETX: 7640T>C; Ile2547Thr

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: SETX: 7640T>C; I2547T; rs151117904

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SETX: I2547T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Translational Neurodegeneration

Yamashita, Satoshi S; Ando, Yukio Y

Publication Date: 2015

Variant appearance in text: ALS4: I2547T

PubMed Link: 26213621

Variant Present in the following documents:

• Main text
• 40035_2015_36_MOESM1_ESM.xlsx, sheet 1

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs151117904

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Drew, Alexander P AP; Zhu, Danqing D; Kidambi, Aditi A; Ly, Carolyn C; Tey, Shelisa S; Brewer, Megan H MH; Ahmad-Annuar, Azlina A; Nicholson, Garth A GA; Kennerson, Marina L ML

Publication Date: 2015-03

Variant appearance in text: SETX: 7640T>C

PubMed Link: 25802885

Variant Present in the following documents:

• Main text
• mgg30003-0143.pdf

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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: SETX: I2547T

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Annals Of Neurology

Cady, Janet J; Allred, Peggy P; Bali, Taha T; Pestronk, Alan A; Goate, Alison A; Miller, Timothy M TM; Mitra, Robi D RD; Ravits, John J; Harms, Matthew B MB; Baloh, Robert H RH

Publication Date: 2015-01

Variant appearance in text: SETX: 7640T>C; I2547T; rs151117904

PubMed Link: 25382069

Variant Present in the following documents:

• Main text

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: SETX: I2547T

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Research International

Høyer, Helle H; Braathen, Geir J GJ; Busk, Øyvind L ØL; Holla, Øystein L ØL; Svendsen, Marit M; Hilmarsen, Hilde T HT; Strand, Linda L; Skjelbred, Camilla F CF; Russell, Michael B MB

Publication Date: 2014

Variant appearance in text: SETX: 7640T>C

PubMed Link: 25025039

Variant Present in the following documents:

• 210401.f1.pdf

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Senataxin mutations and amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis : Official Publication Of The World Federation Of Neurology Research Group On Motor Neuron Diseases

Hirano, Michio M; Quinzii, Catarina M CM; Mitsumoto, Hiroshi H; Hays, Arthur P AP; Roberts, J Kirk JK; Richard, Patricia P; Rowland, Lewis P LP

Publication Date: 2011-05

Variant appearance in text: SETX: 7640T>C

PubMed Link: 21190393

Variant Present in the following documents:

• Main text

View BVdb publication page

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