Publications:

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Joint disease-specificity at the regulatory base-pair level.

Nature Communications

Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD

Publication Date: 2021-07-06

Variant appearance in text: rs4911178

PubMed Link: 34230488

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24345.pdf
• 41467_2021_24345_MOESM2_ESM.pdf
• 41467_2021_24345_MOESM1_ESM.pdf

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Joint disease-specificity at the regulatory base-pair level.

Nature Communications

Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD

Publication Date: 2021-07-06

Variant appearance in text: rs4911178

PubMed Link: 34230488

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24345.pdf
• 41467_2021_24345_MOESM2_ESM.pdf
• 41467_2021_24345_MOESM1_ESM.pdf

View BVdb publication page

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Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk.

Cell

Richard, Daniel D; Liu, Zun Z; Cao, Jiaxue J; Kiapour, Ata M AM; Willen, Jessica J; Yarlagadda, Siddharth S; Jagoda, Evelyn E; Kolachalama, Vijaya B VB; Sieker, Jakob T JT; Chang, Gary H GH; Muthuirulan, Pushpanathan P; Young, Mariel M; Masson, Anand A; Konrad, Johannes J; Hosseinzadeh, Shayan S; Maridas, David E DE; Rosen, Vicki V; Krawetz, Roman R; Roach, Neil N; Capellini, Terence D TD

Publication Date: 2020-04-16

Variant appearance in text: rs4911178

PubMed Link: 32220312

Variant Present in the following documents:

• Main text

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Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Current Osteoporosis Reports

Muthuirulan, Pushpanathan P; Capellini, Terence D TD

Publication Date: 2019-10

Variant appearance in text: rs4911178

PubMed Link: 31441021

Variant Present in the following documents:

• Main text

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Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.

Communications Biology

Hatzikotoulas, Konstantinos K; Roposch, Andreas A; , ; Shah, Karan M KM; Clark, Matthew J MJ; Bratherton, Selina S; Limbani, Vasanti V; Steinberg, Julia J; Zengini, Eleni E; Warsame, Kaltuun K; Ratnayake, Madhushika M; Tselepi, Maria M; Schwartzentruber, Jeremy J; Loughlin, John J; Eastwood, Deborah M DM; Zeggini, Eleftheria E; Wilkinson, J Mark JM

Publication Date: 2018

Variant appearance in text: rs4911178

PubMed Link: 30273415

Variant Present in the following documents:

• Main text
• 42003_2018_Article_52.pdf

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Novel Genetic Variants Associated with Lumbar Spondylosis in Koreans : A Genome-Wide Association Study.

Journal Of Korean Neurosurgical Society

Kim, Hyun Ah HA; Heo, Seong Gu SG; Park, Ji Wan JW; Jung, Young Ok YO

Publication Date: 2018-01

Variant appearance in text: rs4911178

PubMed Link: 29354237

Variant Present in the following documents:

• Main text
• jkns-61-1-66.pdf

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Impact of broad regulatory regions on Gdf5 expression and function in knee development and susceptibility to osteoarthritis.

Annals Of The Rheumatic Diseases

Pregizer, Steven K SK; Kiapour, Ata M AM; Young, Mariel M; Chen, Hao H; Schoor, Michael M; Liu, Zun Z; Cao, Jiaxue J; Rosen, Vicki V; Capellini, Terence D TD

Publication Date: 2018-03

Variant appearance in text: rs4911178

PubMed Link: 29311146

Variant Present in the following documents:

• Main text

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Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height.

Elife

Guo, Michael M; Liu, Zun Z; Willen, Jessie J; Shaw, Cameron P CP; Richard, Daniel D; Jagoda, Evelyn E; Doxey, Andrew C AC; Hirschhorn, Joel J; Capellini, Terence D TD

Publication Date: 2017-12-05

Variant appearance in text: rs4911178

PubMed Link: 29205154

Variant Present in the following documents:

• Main text
• elife-29329.pdf

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Osteoarthritis year in review 2017: genetics and epigenetics.

Osteoarthritis And Cartilage

Peffers, M J MJ; Balaskas, P P; Smagul, A A

Publication Date: 2018-03

Variant appearance in text: rs4911178

PubMed Link: 28989115

Variant Present in the following documents:

• Main text

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Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.

Nature Genetics

Capellini, Terence D TD; Chen, Hao H; Cao, Jiaxue J; Doxey, Andrew C AC; Kiapour, Ata M AM; Schoor, Michael M; Kingsley, David M DM

Publication Date: 2017-08

Variant appearance in text: rs4911178

PubMed Link: 28671685

Variant Present in the following documents:

• Main text
• NIHMS884460-supplement-1.pdf
• NIHMS884460-supplement-2.pdf
• nihms-884460.pdf

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs4911178

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-9.pdf

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A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.

Plos One

Sun, Ye Y; Wang, Cheng C; Hao, Zheng Z; Dai, Jin J; Chen, Dongyang D; Xu, Zhihong Z; Shi, Dongquan D; Mao, Ping P; Teng, Huajian H; Gao, Xiang X; Hu, Zhibin Z; Shen, Hongbing H; Jiang, Qing Q

Publication Date: 2015

Variant appearance in text: rs4911178

PubMed Link: 25848760

Variant Present in the following documents:

• Main text
• pone.0120212.pdf

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Genome-wide association study identified UQCC locus for spine bone size in humans.

Bone

Deng, Fei-Yan FY; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Liu, Yong-Jun YJ; Liu, Yao-Zhong YZ; Shen, Hui H; Tian, Qing Q; Li, Jian J; Deng, Hong-Wen HW

Publication Date: 2013-03

Variant appearance in text: rs4911178

PubMed Link: 23207799

Variant Present in the following documents:

• Main text

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