Publications:

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Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

Molecular Therapy. Nucleic Acids

Siqueira, Edilene E; Obiols-Guardia, Aida A; Jorge-Torres, Olga C OC; Oliveira-Mateos, Cristina C; Soler, Marta M; Ramesh-Kumar, Deepthi D; Setién, Fernando F; van Rossum, Daniëlle D; Pascual-Alonso, Ainhoa A; Xiol, Clara C; Ivan, Cristina C; Shimizu, Masayoshi M; Armstrong, Judith J; Calin, George A GA; Pasterkamp, R Jeroen RJ; Esteller, Manel M; Guil, Sonia S

Publication Date: 2022-03-08

Variant appearance in text: rs28934907

PubMed Link: 35036070

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

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

Zhang, Qingping Q; Yang, Xiaoxu X; Wang, Jiaping J; Li, Jiarui J; Wu, Qixi Q; Wen, Yongxin Y; Zhao, Ying Y; Zhang, Xiaoying X; Yao, He H; Wu, Xiru X; Yu, Shujie S; Wei, Liping L; Bao, Xinhua X

Publication Date: 2019-06

Variant appearance in text: rs28934907

PubMed Link: 30405208

Variant Present in the following documents:

View BVdb publication page

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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Scientific Reports

Vidal, Silvia S; Brandi, Núria N; Pacheco, Paola P; Gerotina, Edgar E; Blasco, Laura L; Trotta, Jean-Rémi JR; Derdak, Sophia S; Del Mar O'Callaghan, Maria M; Garcia-Cazorla, Àngels À; Pineda, Mercè M; Armstrong, Judith J; ,

Publication Date: 2017-09-25

Variant appearance in text: rs28934907

PubMed Link: 28947817

Variant Present in the following documents:

• 41598_2017_11620_MOESM1_ESM.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: rs28934907

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

View BVdb publication page

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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Orphanet Journal Of Rare Diseases

Ehrhart, Friederike F; Coort, Susan L M SL; Cirillo, Elisa E; Smeets, Eric E; Evelo, Chris T CT; Curfs, Leopold M G LM

Publication Date: 2016-11-25

Variant appearance in text: rs28934907

PubMed Link: 27884167

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: rs28934907

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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