Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: TWNK: 1102G>A; Val368Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: TWNK: V368I; rs17113613

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience

Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H

Publication Date: 2022

Variant appearance in text: TWINKLE: Val368Ile

PubMed Link: 36157077

Variant Present in the following documents:

• Main text
• fnmol-15-974480.pdf

View BVdb publication page

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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics

Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE

Publication Date: 2022-01

Variant appearance in text: C10orf2: V368I; rs17113613

PubMed Link: 34859289

Variant Present in the following documents:

• 439_2021_2394_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances

Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N

Publication Date: 2021-03

Variant appearance in text: TWNK: Val368Ile; rs17113613

PubMed Link: 33731350

Variant Present in the following documents:

• Main text
• abe7520.pdf

View BVdb publication page

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Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances

Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N

Publication Date: 2021-03

Variant appearance in text: TWNK: Val368Ile; rs17113613

PubMed Link: 33731350

Variant Present in the following documents:

• Main text
• abe7520.pdf

View BVdb publication page

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Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.

Brain Pathology (Zurich, Switzerland)

Hedberg-Oldfors, Carola C; Lindgren, Ulrika U; Basu, Swaraj S; Visuttijai, Kittichate K; Lindberg, Christopher C; Falkenberg, Maria M; Larsson Lekholm, Erik E; Oldfors, Anders A

Publication Date: 2021-05

Variant appearance in text: TWNK: 1102G>A; V368I

PubMed Link: 33354847

Variant Present in the following documents:

• BPA-31-e12931-s001.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: C10orf2: 1102G>A; rs17113613

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: C10orf2: V368I

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: C10orf2: 1102G>A

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9

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: TWNK: 1102G>A; Val368Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TWNK: V368I; rs17113613

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs17113613

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: C10orf2: 1102G>A

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: rs17113613

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

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: C10orf2: 1102G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: PEO: V368I; rs17113613

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: C10orf2: V368I

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, 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: C10orf2: V368I; rs17113613

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: TWNK: V368I; rs17113613

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Brain : A Journal Of Neurology

Neeve, Vivienne C M VC; Samuels, David C DC; Bindoff, Laurence A LA; van den Bosch, Bianca B; Van Goethem, Gert G; Smeets, Hubert H; Lombès, Anne A; Jardel, Claude C; Hirano, Michio M; Dimauro, Salvatore S; De Vries, Maaike M; Smeitink, Jan J; Smits, Bart W BW; de Coo, Ireneus F M IF; Saft, Carsten C; Klopstock, Thomas T; Keiling, Bianca-Cortina BC; Czermin, Birgit B; Abicht, Angela A; Lochmüller, Hanns H; Hudson, Gavin G; Gorman, Grainne G GG; Turnbull, Doug M DM; Taylor, Robert W RW; Holinski-Feder, Elke E; Chinnery, Patrick F PF; Horvath, Rita R

Publication Date: 2012-12

Variant appearance in text: PEO1: Val368Ile; rs17113613

PubMed Link: 23250882

Variant Present in the following documents:

• Main text
• aws298.pdf

View BVdb publication page

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: C10orf2: V368I

PubMed Link: 20843780

Variant Present in the following documents:

• Main text
• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
• gkq750.pdf

View BVdb publication page

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