Publications:

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A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.

Cells

Xin, Yuejiao Y; Liu, Yang Y; Li, Jie J; Liu, Dandan D; Zhang, Chenying C; Wang, Yixiang Y; Zheng, Shuguo S

Publication Date: 2022-09-01

Variant appearance in text: CCD: 569G>A

PubMed Link: 36078141

Variant Present in the following documents:

• cells-11-02729.pdf

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Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America.

Annals Of Medicine And Surgery (2012)

Cano-Pérez, Eder E; Gómez-Alegría, Claudio C; Herrera, Fredy Pomares FP; Gómez-Camargo, Doris D; Malambo-García, Dacia D

Publication Date: 2022-05

Variant appearance in text: CCD: R190Q

PubMed Link: 35638029

Variant Present in the following documents:

• Main text

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Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: CCD: R190Q

PubMed Link: 34862408

Variant Present in the following documents:

• 41525_2021_265_MOESM1_ESM.pdf

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Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: CCD: R190Q

PubMed Link: 34862408

Variant Present in the following documents:

• 41525_2021_265_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.

Medicine

Yang, Liyuan L; Lu, Genqi G; Shen, Wenjing W; Chen, Wenjing W; Lu, Haiyan H; Zhang, Guozhong G; Yuan, Shuo S; Zheng, Shushen S; Ren, Jiabao J

Publication Date: 2021-11-12

Variant appearance in text: RUNX2: 569G>A

PubMed Link: 34766588

Variant Present in the following documents:

• Main text
• medi-100-e27746.pdf

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Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine

Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T

Publication Date: 2018-08

Variant appearance in text: RUNX2: 569G>A

PubMed Link: 30095610

Variant Present in the following documents:

View BVdb publication page

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Assembly of human C-terminal binding protein (CtBP) into tetramers.

The Journal Of Biological Chemistry

Bellesis, Andrew G AG; Jecrois, Anne M AM; Hayes, Janelle A JA; Schiffer, Celia A CA; Royer, William E WE

Publication Date: 2018-06-08

Variant appearance in text: CCD: R190Q

PubMed Link: 29700119

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: CCD: R190Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: RUNX2: R190Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RUNX2: R190Q

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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