Publications:

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

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

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: DYNC2H1: 3682C>A; Leu1228Ile

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: DYNC2H1: L1228I

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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: DYNC2H1: 3682C>A; Leu1228Ile

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 semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies

Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X

Publication Date: 2019-04

Variant appearance in text: DYNC2H1: 3682C>A; Leu1228Ile

PubMed Link: 30755392

Variant Present in the following documents:

• supp_mcs.a003756_Supplemental_Table_1.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: DYNC2H1: L1228I

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: DYNC2H1: 3682C>A; L1228I

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.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: DYNC2H1: L1228I

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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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Journal Of Medical Genetics

Schmidts, Miriam M; Arts, Heleen H HH; Bongers, Ernie M H F EM; Yap, Zhimin Z; Oud, Machteld M MM; Antony, Dinu D; Duijkers, Lonneke L; Emes, Richard D RD; Stalker, Jim J; Yntema, Jan-Bart L JB; Plagnol, Vincent V; Hoischen, Alexander A; Gilissen, Christian C; Forsythe, Elisabeth E; Lausch, Ekkehart E; Veltman, Joris A JA; Roeleveld, Nel N; Superti-Furga, Andrea A; Kutkowska-Kazmierczak, Anna A; Kamsteeg, Erik-Jan EJ; Elçioğlu, Nursel N; van Maarle, Merel C MC; Graul-Neumann, Luitgard M LM; Devriendt, Koenraad K; Smithson, Sarah F SF; Wellesley, Diana D; Verbeek, Nienke E NE; Hennekam, Raoul C M RC; Kayserili, Hulya H; Scambler, Peter J PJ; Beales, Philip L PL; , ; Knoers, Nine Vam NV; Roepman, Ronald R; Mitchison, Hannah M HM

Publication Date: 2013-05

Variant appearance in text: DYNC2H1: 3682C>A; L1228I; rs189806840

PubMed Link: 23456818

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101284.pdf
• jmedgenet-2012-101284-s1.pdf

View BVdb publication page

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