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: MYH8: 2021G>A; Arg674Gln

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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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: MYH8: 2021G>A; R674Q

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MYH8: R674Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: MYH8: R674Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Developmental myosins: expression patterns and functional significance.

Skeletal Muscle

Schiaffino, Stefano S; Rossi, Alberto C AC; Smerdu, Vika V; Leinwand, Leslie A LA; Reggiani, Carlo C

Publication Date: 2015

Variant appearance in text: MYH8: R674Q

PubMed Link: 26180627

Variant Present in the following documents:

• Main text
• 13395_2015_Article_46.pdf

View BVdb publication page

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Molecular basis of cardiac myxomas.

International Journal Of Molecular Sciences

Singhal, Pooja P; Luk, Adriana A; Rao, Vivek V; Butany, Jagdish J

Publication Date: 2014-01-20

Variant appearance in text: MYH8: Arg674Gln

PubMed Link: 24447924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thick and thin filament gene mutations in striated muscle diseases.

International Journal Of Molecular Sciences

Tajsharghi, Homa H

Publication Date: 2008-06

Variant appearance in text: MYH8: R674Q

PubMed Link: 19325803

Variant Present in the following documents:

• Main text
• ijms-9-7-1259.pdf

View BVdb publication page

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Thick and thin filament gene mutations in striated muscle diseases.

International Journal Of Molecular Sciences

Tajsharghi, Homa H

Publication Date: 2008-06

Variant appearance in text: MYH8: R674Q

PubMed Link: 19325803

Variant Present in the following documents:

• Main text
• ijms-9-7-1259.pdf

View BVdb publication page

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