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: MYH3: 1748A>C; Tyr583Ser

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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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Npj Genomic Medicine

Zhao, Sen S; Zhang, Yuanqiang Y; Hallgrimsdottir, Sigrun S; Zuo, Yuzhi Y; Li, Xiaoxin X; Batkovskyte, Dominyka D; Liu, Sen S; Lindelöf, Hillevi H; Wang, Shengru S; Hammarsjö, Anna A; Yang, Yang Y; Ye, Yongyu Y; Wang, Lianlei L; Yan, Zihui Z; Lin, Jiachen J; Yu, Chenxi C; Chen, Zefu Z; Niu, Yuchen Y; Wang, Huizi H; Zhao, Zhi Z; Liu, Pengfei P; Qiu, Guixing G; Posey, Jennifer E JE; Wu, Zhihong Z; Lupski, James R JR; Micule, Ieva I; Anderlid, Britt-Marie BM; Voss, Ulrika U; Sulander, Dennis D; Kuchinskaya, Ekaterina E; Nordgren, Ann A; Nilsson, Ola O; , ; Zhang, Terry Jianguo TJ; Grigelioniene, Giedre G; Wu, Nan N

Publication Date: 2022-02-15

Variant appearance in text: MYH3: 1748A>C; Tyr583Ser

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH3: Tyr583Ser

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Freeman-Burian syndrome.

Orphanet Journal Of Rare Diseases

Poling, Mikaela I MI; Dufresne, Craig R CR; Chamberlain, Robert L RL

Publication Date: 2019-01-10

Variant appearance in text: MYH3: Y583S

PubMed Link: 30630514

Variant Present in the following documents:

• Main text
• 13023_2018_Article_984.pdf

View BVdb publication page

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Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome.

Molecular Biology Of The Cell

Rao, Deepti S DS; Kronert, William A WA; Guo, Yiming Y; Hsu, Karen H KH; Sarsoza, Floyd F; Bernstein, Sanford I SI

Publication Date: 2019-01-01

Variant appearance in text: MYH3: Y583S

PubMed Link: 30379605

Variant Present in the following documents:

• Main text
• mbc-30-30.pdf

View BVdb publication page

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Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.

Bmj Case Reports

Chamberlain, Robert L RL; Poling, Mikaela I MI; Portillo, Augusto L AL; Morales, Andrés A; Ramirez, Rigoberto R T RR; McCormick, Rodger J RJ

Publication Date: 2015-10-22

Variant appearance in text: MYH3: Y583S

PubMed Link: 26494722

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MYH3: Y583S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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