Publications:

---

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: 1493A>G; Glu498Gly

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

View BVdb publication page

---

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH3: Glu498Gly

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

---

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: E498G

PubMed Link: 30630514

Variant Present in the following documents:

• Main text
• 13023_2018_Article_984.pdf

View BVdb publication page

---

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: E498G

PubMed Link: 30379605

Variant Present in the following documents:

• Main text
• mbc-30-30.pdf

View BVdb publication page

---

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: E498G

PubMed Link: 26494722

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

The Journal Of Biological Chemistry

Kronert, William A WA; Melkani, Girish C GC; Melkani, Anju A; Bernstein, Sanford I SI

Publication Date: 2015-12-04

Variant appearance in text: MYH3: E498G

PubMed Link: 26446785

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: E498G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---