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: GDF5: 1322T>C; Leu441Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Frontiers In Molecular Biosciences

Gariballa, Nesrin N; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: GDF5: 1322T>C; L441P

PubMed Link: 33195419

Variant Present in the following documents:

• Main text
• fmolb-07-575608.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GDF5: 1322T>C; Leu441Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.

Bone Research

Wu, Mengrui M; Chen, Guiqian G; Li, Yi-Ping YP

Publication Date: 2016

Variant appearance in text: GDF5: L441P

PubMed Link: 27563484

Variant Present in the following documents:

• Main text
• boneres20169.pdf

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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: GDF5: L441P; rs28936683

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: GDF5: L441P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Plos Genetics

Degenkolbe, Elisa E; König, Jana J; Zimmer, Julia J; Walther, Maria M; Reißner, Carsten C; Nickel, Joachim J; Plöger, Frank F; Raspopovic, Jelena J; Sharpe, James J; Dathe, Katarina K; Hecht, Jacqueline T JT; Mundlos, Stefan S; Doelken, Sandra C SC; Seemann, Petra P

Publication Date: 2013

Variant appearance in text: GDF5: L441P

PubMed Link: 24098149

Variant Present in the following documents:

• Main text

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GDF5 is a second locus for multiple-synostosis syndrome.

American Journal Of Human Genetics

Dawson, Katherine K; Seeman, Petra P; Sebald, Eiman E; King, Lily L; Edwards, Matthew M; Williams, John J; Mundlos, Stephan S; Krakow, Deborah D

Publication Date: 2006-04

Variant appearance in text: GDF5: L441P

PubMed Link: 16532400

Variant Present in the following documents:

• Main text

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

The Journal Of Clinical Investigation

Seemann, Petra P; Schwappacher, Raphaela R; Kjaer, Klaus W KW; Krakow, Deborah D; Lehmann, Katarina K; Dawson, Katherine K; Stricker, Sigmar S; Pohl, Jens J; Plöger, Frank F; Staub, Eike E; Nickel, Joachim J; Sebald, Walter W; Knaus, Petra P; Mundlos, Stefan S

Publication Date: 2005-09

Variant appearance in text: GDF5: L441P

PubMed Link: 16127465

Variant Present in the following documents:

• Main text

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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Journal Of Medical Genetics

Kjaer, K W KW; Eiberg, H H; Hansen, L L; van der Hagen, C B CB; Rosendahl, K K; Tommerup, N N; Mundlos, S S

Publication Date: 2006-03

Variant appearance in text: GDF5: 1322T>C; L441P

PubMed Link: 16014698

Variant Present in the following documents:

• Main text

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