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: COL1A1: 1243C>T; Arg415Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

American Journal Of Medical Genetics. Part A

Takeda, Ryojun R; Yamaguchi, Tomomi T; Hayashi, Shujiro S; Sano, Shinichirou S; Kawame, Hiroshi H; Kanki, Sachiko S; Taketani, Takeshi T; Yoshimura, Hidekane H; Nakamura, Yukio Y; Kosho, Tomoki T

Publication Date: 2022-09

Variant appearance in text: COL1A1: Arg415*

PubMed Link: 35822426

Variant Present in the following documents:

• Main text
• AJMG-188-2560.pdf

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Genes

Morabito, Letteria Anna LA; Allegri, Anna Elsa Maria AEM; Capra, Anna Paola AP; Capasso, Mario M; Capra, Valeria V; Garaventa, Alberto A; Maghnie, Mohamad M; Briuglia, Silvana S; Wasniewska, Malgorzata Gabriela MG

Publication Date: 2022-03-25

Variant appearance in text: COL1A1: 1243C>T

PubMed Link: 35456387

Variant Present in the following documents:

• genes-13-00581.pdf

View BVdb publication page

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Genes

Nadyrshina, Dina D; Zaripova, Aliya A; Tyurin, Anton A; Minniakhmetov, Ildar I; Zakharova, Ekaterina E; Khusainova, Rita R

Publication Date: 2022-01-10

Variant appearance in text: COL1A1: 1243C>T

PubMed Link: 35052464

Variant Present in the following documents:

• Main text
• genes-13-00124.pdf

View BVdb publication page

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Genes

Nadyrshina, Dina D; Zaripova, Aliya A; Tyurin, Anton A; Minniakhmetov, Ildar I; Zakharova, Ekaterina E; Khusainova, Rita R

Publication Date: 2022-01-10

Variant appearance in text: COL1A1: 1243C>T

PubMed Link: 35052464

Variant Present in the following documents:

• Main text
• genes-13-00124.pdf

View BVdb publication page

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Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa

Yang, Lin L; Liu, Bo B; Dong, Xinran X; Wu, Jing J; Sun, Chengjun C; Xi, Li L; Cheng, Ruoqian R; Wu, Bingbing B; Wang, Huijun H; Tong, Shiyuan S; Wang, Dahui D; Luo, Feihong F

Publication Date: 2022-06

Variant appearance in text: rs72648326

PubMed Link: 35044492

Variant Present in the following documents:

• 198_2021_6263_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Molecular Genetics & Genomic Medicine

Higuchi, Yousuke Y; Hasegawa, Kosei K; Futagawa, Natsuko N; Yamashita, Miho M; Tanaka, Hiroyuki H; Tsukahara, Hirokazu H

Publication Date: 2021-06

Variant appearance in text: COL1A1: 1243C>T; Arg415Ter

PubMed Link: 33939306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Clinical And Translational Science

Zhytnik, Lidiia L; Maasalu, Katre K; Reimand, Tiia T; Duy, Binh Ho BH; Kõks, Sulev S; Märtson, Aare A

Publication Date: 2020-09

Variant appearance in text: COL1A1: 1243C>T; Arg415*

PubMed Link: 32166892

Variant Present in the following documents:

• Main text
• CTS-13-960.pdf

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Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.

Frontiers In Pharmacology

Shi, Jingru J; Ren, Meng M; Jia, Jinmeng J; Tang, Muxue M; Guo, Yongli Y; Ni, Xin X; Shi, Tieliu T

Publication Date: 2019

Variant appearance in text: COL1A1: 1243C>T; Arg415X

PubMed Link: 31680973

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: COL1A1: 1243C>T; Arg415*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

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COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Frontiers In Genetics

Zhytnik, Lidiia L; Maasalu, Katre K; Pashenko, Andrey A; Khmyzov, Sergey S; Reimann, Ene E; Prans, Ele E; Kõks, Sulev S; Märtson, Aare A

Publication Date: 2019

Variant appearance in text: COL1A1: 1243C>T; Arg415*

PubMed Link: 31447884

Variant Present in the following documents:

• Main text
• fgene-10-00722.pdf

View BVdb publication page

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Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.

Journal Of Clinical Medicine

Kobayashi, Tsukasa T; Nakamura, Yukio Y; Suzuki, Takako T; Yamaguchi, Tomomi T; Takeda, Ryojun R; Takagi, Masaki M; Hasegawa, Tomonobu T; Kosho, Tomoki T; Kato, Hiroyuki H

Publication Date: 2018-11-24

Variant appearance in text: COL1A1: 1243C>T; R415X

PubMed Link: 30477250

Variant Present in the following documents:

• Main text
• jcm-07-00479.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: COL1A1: R415*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Nature Communications

Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J

Publication Date: 2015-12-09

Variant appearance in text: COL1A1: R415*

PubMed Link: 26647728

Variant Present in the following documents:

• ncomms10131-s8.xlsx, sheet 1

View BVdb publication page

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