Publications:

---

Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology

Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J

Publication Date: 2023-04-18

Variant appearance in text: MYH7: R249Q

PubMed Link: 37131793

Variant Present in the following documents:

• Main text
• nihpp-2023.04.15.536999v1.pdf

View BVdb publication page

---

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: MYH7: 746G>A; Arg249Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Molecular determinants of airway smooth muscle cells in health and disease.

Annals Of Translational Medicine

Ambhore, Nilesh Sudhakar NS; Kumar, Ashish A; Sathish, Venkatachalem V

Publication Date: 2022-10

Variant appearance in text: MYH7: R249Q

PubMed Link: 36388811

Variant Present in the following documents:

• Main text
• atm-10-20-1084.pdf

View BVdb publication page

---

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology

Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM

Publication Date: 2022

Variant appearance in text: MYH7: R249Q

PubMed Link: 36225299

Variant Present in the following documents:

• Main text
• fphys-13-975076.pdf

View BVdb publication page

---

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYH7: 746G>A

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

---

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature Communications

Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF

Publication Date: 2022-07-26

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 35882841

Variant Present in the following documents:

• 41467_2022_31446_MOESM7_ESM.xlsx, sheet 4
• 41467_2022_31446_MOESM1_ESM.pdf

View BVdb publication page

---

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Orphanet Journal Of Rare Diseases

Bader, Ingrid I; Freilinger, M M; Landauer, F F; Waldmüller, S S; Mueller-Felber, W W; Rauscher, C C; Sperl, W W; Bittner, R E RE; Schmidt, W M WM; Mayr, J A JA

Publication Date: 2022-07-19

Variant appearance in text: MYH7: Arg249Gln

PubMed Link: 35854315

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2421.pdf

View BVdb publication page

---

Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: MYH7: R249Q

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A

Publication Date: 2022-02-16

Variant appearance in text: MYH7: R249Q

PubMed Link: 35216312

Variant Present in the following documents:

• Main text
• ijms-23-02195.pdf

View BVdb publication page

---

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: MYH7: R249Q

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Frontiers In Cardiovascular Medicine

Li, Xing X; Tang, Jie J; Li, Jinhui J; Lin, Sha S; Wang, Tao T; Zhou, Kaiyu K; Li, Yifei Y; Hua, Yimin Y

Publication Date: 2021

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 35004917

Variant Present in the following documents:

• Main text
• fcvm-08-810291.pdf

View BVdb publication page

---

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences

Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N

Publication Date: 2021-10-15

Variant appearance in text: MYH7: R249Q

PubMed Link: 34681814

Variant Present in the following documents:

• Main text
• ijms-22-11154.pdf

View BVdb publication page

---

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

View BVdb publication page

---

To lie or not to lie: Super-relaxing with myosins.

Elife

Nag, Suman S; Trivedi, Darshan V DV

Publication Date: 2021-02-10

Variant appearance in text: MYH7: R249Q

PubMed Link: 33565963

Variant Present in the following documents:

• Main text
• elife-63703.pdf

View BVdb publication page

---

To lie or not to lie: Super-relaxing with myosins.

Elife

Nag, Suman S; Trivedi, Darshan V DV

Publication Date: 2021-02-10

Variant appearance in text: MYH7: R249Q

PubMed Link: 33565963

Variant Present in the following documents:

• Main text
• elife-63703.pdf

View BVdb publication page

---

Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses.

Genes

Fernlund, Eva E; Kissopoulou, Antheia A; Green, Henrik H; Karlsson, Jan-Erik JE; Ellegård, Rada R; Årstrand, Hanna Klang HK; Jonasson, Jon J; Gunnarsson, Cecilia C

Publication Date: 2020-12-08

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 33302605

Variant Present in the following documents:

• Main text
• genes-11-01472.pdf

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Kargaran, Parisa K PK; Evans, Jared M JM; Bodbin, Sara E SE; Smith, James G W JGW; Nelson, Timothy J TJ; Denning, Chris C; Mosqueira, Diogo D

Publication Date: 2020-07-23

Variant appearance in text: MYH7: R249Q

PubMed Link: 32718021

Variant Present in the following documents:

• jcm-09-02349.pdf

View BVdb publication page

---

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: MYH7: R249Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Genetics of inherited cardiomyopathies in Africa.

Cardiovascular Diagnosis And Therapy

Shaboodien, Gasnat G; Spracklen, Timothy F TF; Kamuli, Stephen S; Ndibangwi, Polycarp P; Van Niekerk, Carla C; Ntusi, Ntobeko A B NAB

Publication Date: 2020-04

Variant appearance in text: MYH7: R249Q

PubMed Link: 32420109

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.

Science Advances

Sarkar, Saswata S SS; Trivedi, Darshan V DV; Morck, Makenna M MM; Adhikari, Arjun S AS; Pasha, Shaik N SN; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2020-04

Variant appearance in text: MYH7: R249Q

PubMed Link: 32284968

Variant Present in the following documents:

• Main text
• aax0069.pdf

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: MYH7: R249Q

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

---

Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: MYH7: R249Q

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Pediatric Critical Care Medicine : A Journal Of The Society Of Critical Care Medicine And The World Federation Of Pediatric Intensive And Critical Care Societies

Sanford, Erica F EF; Clark, Michelle M MM; Farnaes, Lauge L; Williams, Matthew R MR; Perry, James C JC; Ingulli, Elizabeth G EG; Sweeney, Nathaly M NM; Doshi, Ami A; Gold, Jeffrey J JJ; Briggs, Benjamin B; Bainbridge, Matthew N MN; Feddock, Michele M; Watkins, Kelly K; Chowdhury, Shimul S; Nahas, Shareef A SA; Dimmock, David P DP; Kingsmore, Stephen F SF; Coufal, Nicole G NG; ,

Publication Date: 2019-11

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 31246743

Variant Present in the following documents:

• Main text

View BVdb publication page

---

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.

Nature Communications

Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM

Publication Date: 2019-06-18

Variant appearance in text: MYH7: R249Q

PubMed Link: 31213605

Variant Present in the following documents:

• Main text
• 41467_2019_10555_MOESM1_ESM.pdf
• 41467_2019_Article_10555.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Three perspectives on the molecular basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Pflugers Archiv : European Journal Of Physiology

Spudich, James A JA

Publication Date: 2019-05

Variant appearance in text: MYH7: R249Q

PubMed Link: 30767072

Variant Present in the following documents:

• 424_2019_Article_2259.pdf

View BVdb publication page

---

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

---

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYH7: 746G>A; Arg249Gln

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

View BVdb publication page

---

Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Anderson, Robert L RL; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Henze, Marcus M; Ma, Weikang W; Gong, Henry H; Rogers, Christopher S CS; Gorham, Joshua M JM; Wong, Fiona L FL; Morck, Makenna M MM; Seidman, Jonathan G JG; Ruppel, Kathleen M KM; Irving, Thomas C TC; Cooke, Roger R; Green, Eric M EM; Spudich, James A JA

Publication Date: 2018-08-28

Variant appearance in text: MYH7: R249Q

PubMed Link: 30104387

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports

Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I

Publication Date: 2018-01-31

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 29386531

Variant Present in the following documents:

• 41598_2018_20114_MOESM1_ESM.pdf

View BVdb publication page

---

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: R249Q

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

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: MYH7: 746G>A; Arg249Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Nature Structural & Molecular Biology

Nag, Suman S; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Adhikari, Arjun S AS; Sunitha, Margaret S MS; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2017-06

Variant appearance in text: MYH7: R249Q

PubMed Link: 28481356

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa

Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM

Publication Date: 2016

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 27841901

Variant Present in the following documents:

• Main text
• cvja-27-152.pdf

View BVdb publication page

---

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: MYH7: R249Q

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MYH7: 746G>A; R249Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: MYH7: R249Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MYH7: R249Q; rs3218713

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: MYH7: R249Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: R249Q

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: MYH7: 746G>A

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: MYH7: R249Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-7.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: rs3218713

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research

Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH

Publication Date: 2013-02

Variant appearance in text: MYH7: Arg249Gln

PubMed Link: 23233322

Variant Present in the following documents:

• Main text
• 12265_2012_Article_9425.pdf

View BVdb publication page

---