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: 1171C>T; Arg391Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: RUNX2: 1171C>T; Arg391*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: RUNX2: 1021+34503C>T; R391*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Global Medical Genetics

Kalayci Yigin, Aysel A; Duz, Mehmet Bugrahan MB; Seven, Mehmet M

Publication Date: 2022-03

Variant appearance in text: CCD: R391X

PubMed Link: 35169780

Variant Present in the following documents:

• Main text
• 10-1055-s-0041-1736482.pdf

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Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Medicina (Kaunas, Lithuania)

Inchingolo, Alessio Danilo AD; Patano, Assunta A; Coloccia, Giovanni G; Ceci, Sabino S; Inchingolo, Angelo Michele AM; Marinelli, Grazia G; Malcangi, Giuseppina G; Montenegro, Valentina V; Laudadio, Claudia C; Palmieri, Giulia G; Bordea, Ioana Roxana IR; Ponzi, Emanuela E; Orsini, Paola P; Ficarella, Romina R; Scarano, Antonio A; Lorusso, Felice F; Dipalma, Gianna G; Corsalini, Massimo M; Gentile, Mattia M; Venere, Daniela Di DD; Inchingolo, Francesco F

Publication Date: 2021-12-10

Variant appearance in text: CCD: Arg391Ter

PubMed Link: 34946295

Variant Present in the following documents:

• Main text
• medicina-57-01350.pdf

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Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Medicina (Kaunas, Lithuania)

Inchingolo, Alessio Danilo AD; Patano, Assunta A; Coloccia, Giovanni G; Ceci, Sabino S; Inchingolo, Angelo Michele AM; Marinelli, Grazia G; Malcangi, Giuseppina G; Montenegro, Valentina V; Laudadio, Claudia C; Palmieri, Giulia G; Bordea, Ioana Roxana IR; Ponzi, Emanuela E; Orsini, Paola P; Ficarella, Romina R; Scarano, Antonio A; Lorusso, Felice F; Dipalma, Gianna G; Corsalini, Massimo M; Gentile, Mattia M; Venere, Daniela Di DD; Inchingolo, Francesco F

Publication Date: 2021-12-10

Variant appearance in text: CCD: Arg391Ter

PubMed Link: 34946295

Variant Present in the following documents:

• Main text
• medicina-57-01350.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: 1171C>T

PubMed Link: 30095610

Variant Present in the following documents:

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Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model.

Stem Cell Research & Therapy

Saito, Akiko A; Ooki, Akio A; Nakamura, Takashi T; Onodera, Shoko S; Hayashi, Kamichika K; Hasegawa, Daigo D; Okudaira, Takahito T; Watanabe, Katsuhito K; Kato, Hiroshi H; Onda, Takeshi T; Watanabe, Akira A; Kosaki, Kenjiro K; Nishimura, Ken K; Ohtaka, Manami M; Nakanishi, Mahito M; Sakamoto, Teruo T; Yamaguchi, Akira A; Sueishi, Kenji K; Azuma, Toshifumi T

Publication Date: 2018-01-22

Variant appearance in text: CCD: R391X

PubMed Link: 29357927

Variant Present in the following documents:

• Main text
• 13287_2017_Article_754.pdf

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Abstracts from the Third International Workshop on Chemical Science and Pharmaceutical Research, 1 - 4 August 2016, Hangzhou, China.

Basic & Clinical Pharmacology & Toxicology

Publication Date: 2016-10

Variant appearance in text: RUNX2: 1171C>T

PubMed Link: 27723236

Variant Present in the following documents:

• BCPT-119-3.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RUNX2: R391*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: R391X

PubMed Link: 22913777

Variant Present in the following documents:

• Main text
• 1750-1172-7-55.pdf

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RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.

Genetics And Molecular Biology

Lin, Wei-De WD; Lin, Shuan-Pei SP; Wang, Chung-Hsing CH; Tsai, Yushin Y; Chen, Chih-Ping CP; Tsai, Fuu-Jen FJ

Publication Date: 2011-04

Variant appearance in text:

PubMed Link: 21734816

Variant Present in the following documents:

• Main text
• gmb-34-2-201.pdf

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Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.

Human Molecular Genetics

Napierala, Dobrawa D; Sam, Kathy K; Morello, Roy R; Zheng, Qiping Q; Munivez, Elda E; Shivdasani, Ramesh A RA; Lee, Brendan B

Publication Date: 2008-07-15

Variant appearance in text: RUNX2: R391X

PubMed Link: 18424451

Variant Present in the following documents:

• Main text

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Dominance of SOX9 function over RUNX2 during skeletogenesis.

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

Zhou, Guang G; Zheng, Qiping Q; Engin, Feyza F; Munivez, Elda E; Chen, Yuqing Y; Sebald, Eiman E; Krakow, Deborah D; Lee, Brendan B

Publication Date: 2006-12-12

Variant appearance in text: RUNX2: R391X

PubMed Link: 17142326

Variant Present in the following documents:

• Main text

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