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: RUNX2: 673C>T; Arg225Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: RUNX2: R225W

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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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: 673C>T

PubMed Link: 36078141

Variant Present in the following documents:

• cells-11-02729.pdf

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Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

Journal Of Applied Oral Science : Revista Fob

Thaweesapphithak, Sermporn S; Saengsin, Jirawat J; Kamolvisit, Wuttichart W; Theerapanon, Thanakorn T; Porntaveetus, Thantrira T; Shotelersuk, Vorasuk V

Publication Date: 2022

Variant appearance in text: RUNX2: 673C>T; rs104893992

PubMed Link: 35674542

Variant Present in the following documents:

• Main text
• 1678-7757-jaos-30-e20220028.pdf

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: RUNX2: 673C>T; Arg225Trp; rs104893992

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 3

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Identification of RUNX2 variants associated with cleidocranial dysplasia.

Hereditas

Gao, Xueren X; Li, Kunxia K; Fan, Yanjie Y; Sun, Yu Y; Luo, Xiaomei X; Wang, Lili L; Liu, Huili H; Gong, Zhuwen Z; Wang, Jianguo J; Wang, Yu Y; Gu, Xuefan X; Yu, Yongguo Y

Publication Date: 2019

Variant appearance in text: RUNX2: 673C>T

PubMed Link: 31548836

Variant Present in the following documents:

• Main text
• 41065_2019_Article_107.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: 673C>T

PubMed Link: 30095610

Variant Present in the following documents:

View BVdb publication page

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Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Plos One

Zhang, Xianli X; Liu, Yang Y; Wang, Xiaozhe X; Sun, Xiangyu X; Zhang, Chenying C; Zheng, Shuguo S

Publication Date: 2017

Variant appearance in text: RUNX2: 673C>T

PubMed Link: 28738062

Variant Present in the following documents:

• Main text
• pone.0181653.pdf

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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Bmc Neurology

Hsueh, Sung-Ju SJ; Lee, Ni-Chung NC; Yang, Shu-Hua SH; Lin, Han-I HI; Lin, Chin-Hsien CH

Publication Date: 2017-01-06

Variant appearance in text: RUNX2: R225W

PubMed Link: 28056872

Variant Present in the following documents:

• Main text
• 12883_2016_Article_781.pdf

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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: R225W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Orphanet Journal Of Rare Diseases

Cui, Yazhou Y; Zhao, Heng H; Liu, Zhenxing Z; Liu, Chao C; Luan, Jing J; Zhou, Xiaoyan X; Han, Jinxiang J

Publication Date: 2012-08-22

Variant appearance in text: RUNX2: 673C>T; R225W

PubMed Link: 22913777

Variant Present in the following documents:

• Main text
• 1750-1172-7-55.pdf

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