Publications:

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: MLH1: 2081A>C; E694A

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: MLH1: E694A; rs145565670

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

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MutS/MutL crystal structure reveals that the MutS sliding clamp loads MutL onto DNA.

Elife

Groothuizen, Flora S FS; Winkler, Ines I; Cristóvão, Michele M; Fish, Alexander A; Winterwerp, Herrie H K HH; Reumer, Annet A; Marx, Andreas D AD; Hermans, Nicolaas N; Nicholls, Robert A RA; Murshudov, Garib N GN; Lebbink, Joyce H G JH; Friedhoff, Peter P; Sixma, Titia K TK

Publication Date: 2015-07-11

Variant appearance in text: MLH1: E694A

PubMed Link: 26163658

Variant Present in the following documents:

• Main text

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The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance.

Familial Cancer

Varga, Elizabeth E; Chao, Elizabeth C EC; Yeager, Nicholas D ND

Publication Date: 2015-09

Variant appearance in text: MLH1: 2081A>C

PubMed Link: 25712765

Variant Present in the following documents:

• Main text

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Chemical trapping of the dynamic MutS-MutL complex formed in DNA mismatch repair in Escherichia coli.

The Journal Of Biological Chemistry

Winkler, Ines I; Marx, Andreas D AD; Lariviere, Damien D; Heinze, Roger J RJ; Cristovao, Michele M; Reumer, Annet A; Curth, Ute U; Sixma, Titia K TK; Friedhoff, Peter P

Publication Date: 2011-05-13

Variant appearance in text: MLH1: E694A

PubMed Link: 21454657

Variant Present in the following documents:

• Main text

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