Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: HMCN1: D2077N

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs144448119

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs144448119

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Nature Communications

Wong, Terrence N TN; Miller, Christopher A CA; Jotte, Matthew R M MRM; Bagegni, Nusayba N; Baty, Jack D JD; Schmidt, Amy P AP; Cashen, Amanda F AF; Duncavage, Eric J EJ; Helton, Nichole M NM; Fiala, Mark M; Fulton, Robert S RS; Heath, Sharon E SE; Janke, Megan M; Luber, Kierstin K; Westervelt, Peter P; Vij, Ravi R; DiPersio, John F JF; Welch, John S JS; Graubert, Timothy A TA; Walter, Matthew J MJ; Ley, Timothy J TJ; Link, Daniel C DC

Publication Date: 2018-01-31

Variant appearance in text: HMCN1: D2077N

PubMed Link: 29386642

Variant Present in the following documents:

• 41467_2018_2858_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Plos Genetics

Ravindran, Ethiraj E; Hu, Hao H; Yuzwa, Scott A SA; Hernandez-Miranda, Luis R LR; Kraemer, Nadine N; Ninnemann, Olaf O; Musante, Luciana L; Boltshauser, Eugen E; Schindler, Detlev D; Hübner, Angela A; Reinecker, Hans-Christian HC; Ropers, Hans-Hilger HH; Birchmeier, Carmen C; Miller, Freda D FD; Wienker, Thomas F TF; Hübner, Christoph C; Kaindl, Angela M AM

Publication Date: 2017-04

Variant appearance in text: HMCN1: 6229G>A; D2077N

PubMed Link: 28453519

Variant Present in the following documents:

• Main text
• pgen.1006746.pdf

View BVdb publication page

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Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Nature

Wong, Terrence N TN; Ramsingh, Giridharan G; Young, Andrew L AL; Miller, Christopher A CA; Touma, Waseem W; Welch, John S JS; Lamprecht, Tamara L TL; Shen, Dong D; Hundal, Jasreet J; Fulton, Robert S RS; Heath, Sharon S; Baty, Jack D JD; Klco, Jeffery M JM; Ding, Li L; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Graubert, Timothy A TA; Ley, Timothy J TJ; Druley, Todd T; Link, Daniel C DC; Wilson, Richard K RK

Publication Date: 2015-02-26

Variant appearance in text: HMCN1: D2077N

PubMed Link: 25487151

Variant Present in the following documents:

• NIHMS635306-supplement-5.xlsx, sheet 1

View BVdb publication page

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