Publications:

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA1: S288C

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Gene expression during bacterivorous growth of a widespread marine heterotrophic flagellate.

The Isme Journal

Massana, Ramon R; Labarre, Aurelie A; López-Escardó, David D; Obiol, Aleix A; Bucchini, François F; Hackl, Thomas T; Fischer, Matthias G MG; Vandepoele, Klaas K; Tikhonenkov, Denis V DV; Husnik, Filip F; Keeling, Patrick J PJ

Publication Date: 2021-01

Variant appearance in text: BRCA1: S288C

PubMed Link: 32920602

Variant Present in the following documents:

• 41396_2020_770_MOESM1_ESM.pdf

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 862A>T; Ser288Cys

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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YeasTSS: an integrative web database of yeast transcription start sites.

Database : The Journal Of Biological Databases And Curation

McMillan, Jonathan J; Lu, Zhaolian Z; Rodriguez, Judith S JS; Ahn, Tae-Hyuk TH; Lin, Zhenguo Z

Publication Date: 2019-01-01

Variant appearance in text: BRCA1: S288c

PubMed Link: 31032841

Variant Present in the following documents:

• Main text

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Glu-108 in Saccharomyces cerevisiae Rad51 Is Critical for DNA Damage-Induced Nuclear Function.

Msphere

Suhane, Tanvi T; Bindumadhavan, Vijayalakshmi V; Fangaria, Nupur N; Nair, Achuthsankar S AS; Tabassum, Wahida W; Muley, Poorvaja P; Bhattacharyya, Mrinal K MK; Bhattacharyya, Sunanda S

Publication Date: 2019-03-20

Variant appearance in text: BRCA1: S288c

PubMed Link: 30894431

Variant Present in the following documents:

• Main text

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UniProt genomic mapping for deciphering functional effects of missense variants.

Human Mutation

McGarvey, Peter B PB; Nightingale, Andrew A; Luo, Jie J; Huang, Hongzhan H; Martin, Maria J MJ; Wu, Cathy C; ,

Publication Date: 2019-06

Variant appearance in text: BRCA1: S288C

PubMed Link: 30840782

Variant Present in the following documents:

• Main text
• HUMU-40-694.pdf

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA1: S288C

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Genetic backgrounds and hidden trait complexity in natural populations.

Current Opinion In Genetics & Development

Fournier, Téo T; Schacherer, Joseph J

Publication Date: 2017-12

Variant appearance in text: BRCA1: S288c

PubMed Link: 28915487

Variant Present in the following documents:

• Main text

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

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

Nykamp, Keith K; Anderson, Michael M; Powers, Martin M; Garcia, John J; Herrera, Blanca B; Ho, Yuan-Yuan YY; Kobayashi, Yuya Y; Patil, Nila N; Thusberg, Janita J; Westbrook, Marjorie M; , ; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: S288c

PubMed Link: 28492532

Variant Present in the following documents:

• Main text
• gim201737a.pdf

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TOPBP1Dpb11 plays a conserved role in homologous recombination DNA repair through the coordinated recruitment of 53BP1Rad9.

The Journal Of Cell Biology

Liu, Yi Y; Cussiol, José Renato JR; Dibitetto, Diego D; Sims, Jennie Rae JR; Twayana, Shyam S; Weiss, Robert Samuel RS; Freire, Raimundo R; Marini, Federica F; Pellicioli, Achille A; Smolka, Marcus Bustamante MB

Publication Date: 2017-03-06

Variant appearance in text: BRCA1: S288C

PubMed Link: 28228534

Variant Present in the following documents:

• Main text

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pBACode: a random-barcode-based high-throughput approach for BAC paired-end sequencing and physical clone mapping.

Nucleic Acids Research

Wei, Xiaolin X; Xu, Zhichao Z; Wang, Guixing G; Hou, Jilun J; Ma, Xiaopeng X; Liu, Haijin H; Liu, Jiadong J; Chen, Bo B; Luo, Meizhong M; Xie, Bingyan B; Li, Ruiqiang R; Ruan, Jue J; Liu, Xiao X

Publication Date: 2017-04-20

Variant appearance in text: BRCA1: S288C

PubMed Link: 27980066

Variant Present in the following documents:

• gkw1261.pdf

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Synthetic viability genomic screening defines Sae2 function in DNA repair.

The Embo Journal

Puddu, Fabio F; Oelschlaegel, Tobias T; Guerini, Ilaria I; Geisler, Nicola J NJ; Niu, Hengyao H; Herzog, Mareike M; Salguero, Israel I; Ochoa-Montaño, Bernardo B; Viré, Emmanuelle E; Sung, Patrick P; Adams, David J DJ; Keane, Thomas M TM; Jackson, Stephen P SP

Publication Date: 2015-06-03

Variant appearance in text: BRCA1: S288c

PubMed Link: 25899817

Variant Present in the following documents:

• Main text
• embj0034-1509.pdf

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Rad9 interacts with Aft1 to facilitate genome surveillance in fragile genomic sites under non-DNA damage-inducing conditions in S. cerevisiae.

Nucleic Acids Research

Andreadis, Christos C; Nikolaou, Christoforos C; Fragiadakis, George S GS; Tsiliki, Georgia G; Alexandraki, Despina D

Publication Date: 2014-11-10

Variant appearance in text: BRCA1: S288C

PubMed Link: 25300486

Variant Present in the following documents:

• Main text

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A Rad53 independent function of Rad9 becomes crucial for genome maintenance in the absence of the Recq helicase Sgs1.

Plos One

Nielsen, Ida I; Bentsen, Iben Bach IB; Andersen, Anni H AH; Gasser, Susan M SM; Bjergbaek, Lotte L

Publication Date: 2013

Variant appearance in text: BRCA1: S288C

PubMed Link: 24278365

Variant Present in the following documents:

• Main text
• pone.0081015.pdf

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The exomer cargo adaptor structure reveals a novel GTPase-binding domain.

The Embo Journal

Paczkowski, Jon E JE; Richardson, Brian C BC; Strassner, Amanda M AM; Fromme, J Christopher JC

Publication Date: 2012-11-05

Variant appearance in text: BRCA1: S288C

PubMed Link: 23000721

Variant Present in the following documents:

• Main text

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Structure of C-terminal tandem BRCT repeats of Rtt107 protein reveals critical role in interaction with phosphorylated histone H2A during DNA damage repair.

The Journal Of Biological Chemistry

Li, Xinxin X; Liu, Kaixian K; Li, Fudong F; Wang, Juncheng J; Huang, Hongda H; Wu, Jihui J; Shi, Yunyu Y

Publication Date: 2012-03-16

Variant appearance in text: BRCA1: S288C

PubMed Link: 22262834

Variant Present in the following documents:

• Main text

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Identification of Saccharomyces cerevisiae spindle pole body remodeling factors.

Plos One

Greenland, Kristen B KB; Ding, Huiming H; Costanzo, Michael M; Boone, Charles C; Davis, Trisha N TN

Publication Date: 2010-11-12

Variant appearance in text: BRCA1: S288C

PubMed Link: 21103054

Variant Present in the following documents:

• Main text
• pone.0015426.pdf

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Mph1p promotes gross chromosomal rearrangement through partial inhibition of homologous recombination.

The Journal Of Cell Biology

Banerjee, Soma S; Smith, Stephanie S; Oum, Ji-Hyun JH; Liaw, Hung-Jiun HJ; Hwang, Ji-Young JY; Sikdar, Nilabja N; Motegi, Akira A; Lee, Sang Eun SE; Myung, Kyungjae K

Publication Date: 2008-06-30

Variant appearance in text: BRCA1: S288c

PubMed Link: 18591428

Variant Present in the following documents:

• Main text

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Cell-to-cell stochastic variation in gene expression is a complex genetic trait.

Plos Genetics

Ansel, Juliet J; Bottin, Hélène H; Rodriguez-Beltran, Camilo C; Damon, Christelle C; Nagarajan, Muniyandi M; Fehrmann, Steffen S; François, Jean J; Yvert, Gaël G

Publication Date: 2008-04-11

Variant appearance in text: BRCA1: S288c

PubMed Link: 18404214

Variant Present in the following documents:

• pgen.1000049.pdf

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Mutations of the Yku80 C terminus and Xrs2 FHA domain specifically block yeast nonhomologous end joining.

Molecular And Cellular Biology

Palmbos, Phillip L PL; Daley, James M JM; Wilson, Thomas E TE

Publication Date: 2005-12

Variant appearance in text: BRCA1: S288C

PubMed Link: 16314503

Variant Present in the following documents:

• Main text

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Isolation and characterization of novel xrs2 mutations in Saccharomyces cerevisiae.

Genetics

Shima, Hiroki H; Suzuki, Masakatu M; Shinohara, Miki M

Publication Date: 2005-05

Variant appearance in text: BRCA1: S288C

PubMed Link: 15716496

Variant Present in the following documents:

• Main text

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Mitotic checkpoint function in the formation of gross chromosomal rearrangements in Saccharomyces cerevisiae.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Myung, Kyungjae K; Smith, Stephanie S; Kolodner, Richard D RD

Publication Date: 2004-11-09

Variant appearance in text: BRCA1: S288c

PubMed Link: 15514023

Variant Present in the following documents:

• Main text

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Site-selective in vivo targeting of cytosine-5 DNA methylation by zinc-finger proteins.

Nucleic Acids Research

Carvin, Christopher D CD; Parr, Rebecca D RD; Kladde, Michael P MP

Publication Date: 2003-11-15

Variant appearance in text: BRCA1: S288C

PubMed Link: 14602907

Variant Present in the following documents:

• Main text

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Induction of S. cerevisiae filamentous differentiation by slowed DNA synthesis involves Mec1, Rad53 and Swe1 checkpoint proteins.

Molecular Biology Of The Cell

Jiang, Yi Wei YW; Kang, Christopher Minkyu CM

Publication Date: 2003-12

Variant appearance in text: BRCA1: S288C

PubMed Link: 14565980

Variant Present in the following documents:

• Main text

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