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: 700G>A; Ala234Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 700G>A; Ala234Thr

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

View BVdb publication page

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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: 700G>A; Ala234Thr

PubMed Link: 29805041

Variant Present in the following documents:

• Main text

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: MYH3: A234T; rs121913623

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

European Journal Of Human Genetics : Ejhg

Tajsharghi, Homa H; Hammans, Simon S; Lindberg, Christopher C; Lossos, Alexander A; Clarke, Nigel F NF; Mazanti, Ingrid I; Waddell, Leigh B LB; Fellig, Yakov Y; Foulds, Nicola N; Katifi, Haider H; Webster, Richard R; Raheem, Olayinka O; Udd, Bjarne B; Argov, Zohar Z; Oldfors, Anders A

Publication Date: 2014-06

Variant appearance in text: MYH3: Ala234Thr

PubMed Link: 24193343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

American Journal Of Medical Genetics. Part A

Beck, Anita E AE; McMillin, Margaret J MJ; Gildersleeve, Heidi I S HI; Kezele, Phillip R PR; Shively, Kathryn M KM; Carey, John C JC; Regnier, Michael M; Bamshad, Michael J MJ

Publication Date: 2013-03

Variant appearance in text: MYH3: 700G>A; A234T

PubMed Link: 23401156

Variant Present in the following documents:

• Main text

View BVdb publication page

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