Publications:

---

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: 3224A>C; Gln1075Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: 3224A>C; Gln1075Pro

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: Gln1075Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

---

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

American Journal Of Human Genetics

Cameron-Christie, Sophia R SR; Wells, Constance F CF; Simon, Marleen M; Wessels, Marja M; Tang, Candy Z N CZN; Wei, Wenhua W; Takei, Riku R; Aarts-Tesselaar, Coranne C; Sandaradura, Sarah S; Sillence, David O DO; Cordier, Marie-Pierre MP; Veenstra-Knol, Hermine E HE; Cassina, Matteo M; Ludwig, Kathrin K; Trevisson, Eva E; Bahlo, Melanie M; Markie, David M DM; Jenkins, Zandra A ZA; Robertson, Stephen P SP

Publication Date: 2018-06-07

Variant appearance in text: MYH3: 3224A>C

PubMed Link: 29805041

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH3: 3224A>C; Gln1075Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MYH3: Q1075P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

---

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

American Journal Of Human Genetics

Chong, Jessica X JX; Burrage, Lindsay C LC; Beck, Anita E AE; Marvin, Colby T CT; McMillin, Margaret J MJ; Shively, Kathryn M KM; Harrell, Tanya M TM; Buckingham, Kati J KJ; Bacino, Carlos A CA; Jain, Mahim M; Alanay, Yasemin Y; Berry, Susan A SA; Carey, John C JC; Gibbs, Richard A RA; Lee, Brendan H BH; Krakow, Deborah D; Shendure, Jay J; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ

Publication Date: 2015-05-07

Variant appearance in text: MYH3: 3224A>C; Gln1075Pro

PubMed Link: 25957469

Variant Present in the following documents:

• Main text

View BVdb publication page

---