Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: MAP4K5: 1000G>A; Ala334Thr

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: MAP4K5: A334T; rs12881869

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

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A translational systems biology approach in both animals and humans identifies a functionally related module of accumbal genes involved in the regulation of reward processing and binge drinking in males.

Journal Of Psychiatry & Neuroscience : Jpn

Stacey, David D; Lourdusamy, Anbarasu A; Ruggeri, Barbara B; Maroteaux, Matthieu M; Jia, Tianye T; Cattrell, Anna A; Nymberg, Charlotte C; Banaschewski, Tobias T; Bhattacharyya, Sohinee S; Band, Hamid H; Barker, Gareth G; Bokde, Arun A; Buchel, Christian C; Carvalho, Fabiana F; Conrod, Patricia P; Desrivieres, Sylvane S; Easton, Alanna A; Fauth-Buehler, Mira M; Fernandez-Medarde, Alberto A; Flor, Herta H; Frouin, Vincent V; Gallinat, Jurgen J; Garavanh, Hugh H; Heinz, Andreas A; Ittermann, Bernd B; Lathrop, Mark M; Lawrence, Claire C; Loth, Eva E; Mann, Karl K; Martinot, Jean-Luc JL; Nees, Frauke F; Paus, Tomas T; Pausova, Zdenka Z; Rietschel, Marcella M; Rotter, Andrea A; Santos, Eugenio E; Smolka, Michael M; Sommer, Wolfgang W; Mameli, Manuel M; Spanagel, Rainer R; Girault, Jean-Antoine JA; Mueller, Christian C; Schumann, Gunter G; ,

Publication Date: 2016-04

Variant appearance in text: rs12881869

PubMed Link: 26679926

Variant Present in the following documents:

• Main text

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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: rs12881869

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: MAP4K5: A334T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: MAP4K5: A334T; rs12881869

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: MAP4K5: A334T; rs12881869

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18

View BVdb publication page

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