Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MECP2: 455C>T; Ala152Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: rs28934908

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: MECP2: 455C>T; Ala152Val

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Scientific Reports

Bach, Snow S; Ryan, Niamh M NM; Guasoni, Paolo P; Corvin, Aiden P AP; El-Nemr, Rania A RA; Khan, Danyal D; Sanfeliu, Albert A; Tropea, Daniela D

Publication Date: 2020-12-17

Variant appearance in text: MECP2: A152V; rs28934908

PubMed Link: 33335218

Variant Present in the following documents:

• 41598_2020_79268_MOESM1_ESM.xlsx, sheet 8

View BVdb publication page

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The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Neul, Jeffrey L JL; Benke, Timothy A TA; Marsh, Eric D ED; Skinner, Steven A SA; Merritt, Jonathan J; Lieberman, David N DN; Standridge, Shannon S; Feyma, Timothy T; Heydemann, Peter P; Peters, Sarika S; Ryther, Robin R; Jones, Mary M; Suter, Bernhard B; Kaufmann, Walter E WE; Glaze, Daniel G DG; Percy, Alan K AK

Publication Date: 2019-01

Variant appearance in text: rs28934908

PubMed Link: 30536762

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.

Molecular Autism

Wen, Zhu Z; Cheng, Tian-Lin TL; Li, Gai-Zhi GZ; Sun, Shi-Bang SB; Yu, Shun-Ying SY; Zhang, Yi Y; Du, Ya-Song YS; Qiu, Zilong Z

Publication Date: 2017

Variant appearance in text: MECP2: 455C>T

PubMed Link: 28785396

Variant Present in the following documents:

• Main text
• 13229_2017_Article_157.pdf

View BVdb publication page

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs28934908

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

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: rs28934908

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Human Mutation

Grozeva, Detelina D; Carss, Keren K; Spasic-Boskovic, Olivera O; Tejada, Maria-Isabel MI; Gecz, Jozef J; Shaw, Marie M; Corbett, Mark M; Haan, Eric E; Thompson, Elizabeth E; Friend, Kathryn K; Hussain, Zaamin Z; Hackett, Anna A; Field, Michael M; Renieri, Alessandra A; Stevenson, Roger R; Schwartz, Charles C; Floyd, James A B JA; Bentham, Jamie J; Cosgrove, Catherine C; Keavney, Bernard B; Bhattacharya, Shoumo S; , ; , ; , ; Hurles, Matthew M; Raymond, F Lucy FL

Publication Date: 2015-12

Variant appearance in text: rs28934908

PubMed Link: 26350204

Variant Present in the following documents:

• HUMU-36-1197-s001.pdf

View BVdb publication page

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