Publications:

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.

Scientific Reports

Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M

Publication Date: 2021-08-24

Variant appearance in text: rs17325713

PubMed Link: 34429451

Variant Present in the following documents:

• Main text
• 41598_2021_Article_96374.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: SACS: 2080G>A; Ala694Thr

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: SACS: A694T; rs17325713

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SACS: A694T

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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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: SACS: 2080G>A; Ala694Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SACS: A694T; rs17325713

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: SACS: A694T; rs17325713

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: SACS: A694T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs17325713

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.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: SACS: A694T; rs17325713

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: SACS: A694T; rs17325713

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Human Mutation

Romano, Alessandro A; Tessa, Alessandra A; Barca, Amilcare A; Fattori, Fabiana F; de Leva, Maria Fulvia MF; Terracciano, Alessandra A; Storelli, Carlo C; Santorelli, Filippo Maria FM; Verri, Tiziano T

Publication Date: 2013-03

Variant appearance in text: SACS: 2080G>A; rs17325713

PubMed Link: 23280630

Variant Present in the following documents:

• humu0034-0525-SD1.pdf

View BVdb publication page

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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Movement Disorders : Official Journal Of The Movement Disorder Society

Fogel, Brent L BL; Lee, Ji Yong JY; Lane, Jessica J; Wahnich, Amanda A; Chan, Sandy S; Huang, Alden A; Osborn, Greg E GE; Klein, Eric E; Mamah, Catherine C; Perlman, Susan S; Geschwind, Daniel H DH; Coppola, Giovanni G

Publication Date: 2012-03

Variant appearance in text: SACS: A694T; rs17325713

PubMed Link: 22287014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

The Journal Of Molecular Diagnostics : Jmd

Vermeer, Sascha S; Meijer, Rowdy P P RP; Hofste, Tom G J TG; Bodmer, Daniëlle D; Bosgoed, Ermanno A J EA; Cremers, Frans P M FP; Kremer, Berry H P BH; Knoers, Nine V A M NV; Scheffer, Hans H

Publication Date: 2009-11

Variant appearance in text: SACS: 2080G>A

PubMed Link: 19779133

Variant Present in the following documents:

• Main text

View BVdb publication page

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