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: 2015G>A; Arg672His

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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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: MYH3: R672H; rs121913617

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

Prenatal Diagnosis

Rajala, Katri K; Kasanen, Ellamaija E; Toiviainen-Salo, Sanna S; Valta, Helena H; Mäkitie, Outi O; Stefanovic, Vedran V; Tanner, Laura L

Publication Date: 2022-11

Variant appearance in text: MYH3: 2015G>A; Arg672His

PubMed Link: 35611473

Variant Present in the following documents:

• PD-42-1525.pdf

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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: 2015G>A; Arg672His

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

View BVdb publication page

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Journal Of Medical Genetics

Falb, Ruth J RJ; Müller, Amelie J AJ; Klein, Wolfram W; Grimmel, Mona M; Grasshoff, Ute U; Spranger, Stephanie S; Stöbe, Petra P; Gauck, Darja D; Kuechler, Alma A; Dikow, Nicola N; Schwaibold, Eva M C EMC; Schmidt, Christoph C; Averdunk, Luisa L; Buchert, Rebecca R; Heinrich, Tilman T; Prodan, Natalia N; Park, Joohyun J; Kehrer, Martin M; Sturm, Marc M; Kelemen, Olga O; Hartmann, Silke S; Horn, Denise D; Emmerich, Dirk D; Hirt, Nina N; Neumann, Armin A; Kristiansen, Glen G; Gembruch, Ulrich U; Haen, Susanne S; Siebert, Reiner R; Hentze, Sabine S; Hoopmann, Markus M; Ossowski, Stephan S; Waldmüller, Stephan S; Beck-Wödl, Stefanie S; Gläser, Dieter D; Tekesin, Ismail I; Distelmaier, Felix F; Riess, Olaf O; Kagan, Karl-Oliver KO; Dufke, Andreas A; Haack, Tobias B TB

Publication Date: 2021-11-05

Variant appearance in text: MYH3: Arg672His

PubMed Link: 34740919

Variant Present in the following documents:

• Main text
• jmedgenet-2021-108064.pdf

View BVdb publication page

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The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.

Frontiers In Genetics

He, Miao M; Du, Liu L; Xie, Hongning H; Zhang, Lihe L; Gu, Yujun Y; Lei, Ting T; Zheng, Ju J; Chen, Dan D

Publication Date: 2021

Variant appearance in text: MYH3: 2015G>A; Arg672His

PubMed Link: 34367232

Variant Present in the following documents:

• Main text
• fgene-12-627204.pdf

View BVdb publication page

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Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.

Genes

Whittle, Julia J; Johnson, Aaron A; Dobbs, Matthew B MB; Gurnett, Christina A CA

Publication Date: 2021-06-20

Variant appearance in text: MYH3: R672H

PubMed Link: 34203046

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal Of Medical Genetics

Laquerriere, Annie A; Jaber, Dana D; Abiusi, Emanuela E; Maluenda, Jérome J; Mejlachowicz, Dan D; Vivanti, Alexandre A; Dieterich, Klaus K; Stoeva, Radka R; Quevarec, Loic L; Nolent, Flora F; Biancalana, Valerie V; Latour, Philippe P; Sternberg, Damien D; Capri, Yline Y; Verloes, Alain A; Bessieres, Bettina B; Loeuillet, Laurence L; Attie-Bitach, Tania T; Martinovic, Jelena J; Blesson, Sophie S; Petit, Florence F; Beneteau, Claire C; Whalen, Sandra S; Marguet, Florent F; Bouligand, Jerome J; Héron, Delphine D; Viot, Géraldine G; Amiel, Jeanne J; Amram, Daniel D; Bellesme, Céline C; Bucourt, Martine M; Faivre, Laurence L; Jouk, Pierre-Simon PS; Khung, Suonavy S; Sigaudy, Sabine S; Delezoide, Anne-Lise AL; Goldenberg, Alice A; Jacquemont, Marie-Line ML; Lambert, Laetitia L; Layet, Valérie V; Lyonnet, Stanislas S; Munnich, Arnold A; Van Maldergem, Lionel L; Piard, Juliette J; Guimiot, Fabien F; Landrieu, Pierre P; Letard, Pascaline P; Pelluard, Fanny F; Perrin, Laurence L; Saint-Frison, Marie-Hélène MH; Topaloglu, Haluk H; Trestard, Laetitia L; Vincent-Delorme, Catherine C; Amthor, Helge H; Barnerias, Christine C; Benachi, Alexandra A; Bieth, Eric E; Boucher, Elise E; Cormier-Daire, Valerie V; Delahaye-Duriez, Andrée A; Desguerre, Isabelle I; Eymard, Bruno B; Francannet, Christine C; Grotto, Sarah S; Lacombe, Didier D; Laffargue, Fanny F; Legendre, Marine M; Martin-Coignard, Dominique D; Mégarbané, André A; Mercier, Sandra S; Nizon, Mathilde M; Rigonnot, Luc L; Prieur, Fabienne F; Quélin, Chloé C; Ranjatoelina-Randrianaivo, Hanitra H; Resta, Nicoletta N; Toutain, Annick A; Verhelst, Helene H; Vincent, Marie M; Colin, Estelle E; Fallet-Bianco, Catherine C; Granier, Michèle M; Grigorescu, Romulus R; Saada, Julien J; Gonzales, Marie M; Guiochon-Mantel, Anne A; Bessereau, Jean-Louis JL; Tawk, Marcel M; Gut, Ivo I; Gitiaux, Cyril C; Melki, Judith J

Publication Date: 2022-06

Variant appearance in text: MYH3: 2015G>A; Arg672His; rs121913617

PubMed Link: 33820833

Variant Present in the following documents:

• jmedgenet-2020-107595supp001.xlsx, sheet 1

View BVdb publication page

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MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.

Embo Molecular Medicine

Whittle, Julia J; Antunes, Lilian L; Harris, Mya M; Upshaw, Zachary Z; Sepich, Diane S DS; Johnson, Aaron N AN; Mokalled, Mayssa M; Solnica-Krezel, Lilianna L; Dobbs, Matthew B MB; Gurnett, Christina A CA

Publication Date: 2020-11-06

Variant appearance in text: MYH3: R672H

PubMed Link: 33016623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH3: Arg672His

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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: MYH3: R672H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency.

Annals Of Rehabilitation Medicine

Park, Jihyun J; Kang, Seong-Woong SW; Choi, Won Ah WA; Lee, Yewon Y; Cho, Han Eol HE

Publication Date: 2020-04

Variant appearance in text: MYH3: 2015G>A

PubMed Link: 32392656

Variant Present in the following documents:

• Main text
• arm-2020-44-2-165.pdf

View BVdb publication page

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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: MYH3: 2015G>A; R672H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Genome Medicine

Cao, Ye Y; Tokita, Mari J MJ; Chen, Edward S ES; Ghosh, Rajarshi R; Chen, Tiansheng T; Feng, Yanming Y; Gorman, Elizabeth E; Gibellini, Federica F; Ward, Patricia A PA; Braxton, Alicia A; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Bi, Weimin W; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Gambin, Tomasz T; Shaw, Chad C; Liu, Pengfei P; Stankiewicz, Pawel P

Publication Date: 2019-07-26

Variant appearance in text: MYH3: 2015G>A; R672H

PubMed Link: 31349857

Variant Present in the following documents:

• Main text
• 13073_2019_Article_658.pdf

View BVdb publication page

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

American Journal Of Human Genetics

Pehlivan, Davut D; Bayram, Yavuz Y; Gunes, Nilay N; Coban Akdemir, Zeynep Z; Shukla, Anju A; Bierhals, Tatjana T; Tabakci, Burcu B; Sahin, Yavuz Y; Gezdirici, Alper A; Fatih, Jawid M JM; Gulec, Elif Yilmaz EY; Yesil, Gozde G; Punetha, Jaya J; Ocak, Zeynep Z; Grochowski, Christopher M CM; Karaca, Ender E; Albayrak, Hatice Mutlu HM; Radhakrishnan, Periyasamy P; Erdem, Haktan Bagis HB; Sahin, Ibrahim I; Yildirim, Timur T; Bayhan, Ilhan A IA; Bursali, Aysegul A; Elmas, Muhsin M; Yuksel, Zafer Z; Ozdemir, Ozturk O; Silan, Fatma F; Yildiz, Onur O; Yesilbas, Osman O; Isikay, Sedat S; Balta, Burhan B; Gu, Shen S; Jhangiani, Shalini N SN; Doddapaneni, Harsha H; Hu, Jianhong J; Muzny, Donna M DM; , ; Boerwinkle, Eric E; Gibbs, Richard A RA; Tsiakas, Konstantinos K; Hempel, Maja M; Girisha, Katta Mohan KM; Gul, Davut D; Posey, Jennifer E JE; Elcioglu, Nursel H NH; Tuysuz, Beyhan B; Lupski, James R JR

Publication Date: 2019-07-03

Variant appearance in text: MYH3: 2015G>A; Arg672His

PubMed Link: 31230720

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.

Developmental Biology

Das, Shreyasi S; Kumar, Pankaj P; Verma, Aakanksha A; Maiti, Tushar K TK; Mathew, Sam J SJ

Publication Date: 2019-05-15

Variant appearance in text: MYH3: R672H

PubMed Link: 30826400

Variant Present in the following documents:

• EMS85708.pdf

View BVdb publication page

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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: R672H

PubMed Link: 30630514

Variant Present in the following documents:

• Main text
• 13023_2018_Article_984.pdf

View BVdb publication page

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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: R672H

PubMed Link: 30379605

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

Genome Medicine

Normand, Elizabeth A EA; Braxton, Alicia A; Nassef, Salma S; Ward, Patricia A PA; Vetrini, Francesco F; He, Weimin W; Patel, Vipulkumar V; Qu, Chunjing C; Westerfield, Lauren E LE; Stover, Samantha S; Dharmadhikari, Avinash V AV; Muzny, Donna M DM; Gibbs, Richard A RA; Dai, Hongzheng H; Meng, Linyan L; Wang, Xia X; Xiao, Rui R; Liu, Pengfei P; Bi, Weimin W; Xia, Fan F; Walkiewicz, Magdalena M; Van den Veyver, Ignatia B IB; Eng, Christine M CM; Yang, Yaping Y

Publication Date: 2018-09-28

Variant appearance in text: MYH3: 2015G>A; R672H

PubMed Link: 30266093

Variant Present in the following documents:

• Main text
• 13073_2018_Article_582.pdf

View BVdb publication page

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Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Case Reports In Genetics

Ali, A M AM; Mbwasi, R M RM; Kinabo, G G; Kamsteeg, E-J EJ; Hamel, B C BC; Dekker, M C J MCJ

Publication Date: 2017

Variant appearance in text: MYH3: 2015G>A; Arg672His

PubMed Link: 28584669

Variant Present in the following documents:

• Main text
• CRIG2017-9327169.pdf

View BVdb publication page

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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: MYH3: 2015G>A; R672H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.

The Journal Of Biological Chemistry

Walklate, Jonathan J; Vera, Carlos C; Bloemink, Marieke J MJ; Geeves, Michael A MA; Leinwand, Leslie L

Publication Date: 2016-05-06

Variant appearance in text: MYH3: R672H

PubMed Link: 26945064

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Orphanet Journal Of Rare Diseases

Todd, Emily J EJ; Yau, Kyle S KS; Ong, Royston R; Slee, Jennie J; McGillivray, George G; Barnett, Christopher P CP; Haliloglu, Goknur G; Talim, Beril B; Akcoren, Zuhal Z; Kariminejad, Ariana A; Cairns, Anita A; Clarke, Nigel F NF; Freckmann, Mary-Louise ML; Romero, Norma B NB; Williams, Denise D; Sewry, Caroline A CA; Colley, Alison A; Ryan, Monique M MM; Kiraly-Borri, Cathy C; Sivadorai, Padma P; Allcock, Richard J N RJ; Beeson, David D; Maxwell, Susan S; Davis, Mark R MR; Laing, Nigel G NG; Ravenscroft, Gianina G

Publication Date: 2015-11-17

Variant appearance in text: MYH3: 2015G>A; Arg672His

PubMed Link: 26578207

Variant Present in the following documents:

• Main text
• 13023_2015_Article_364.pdf

View BVdb publication page

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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: R672H

PubMed Link: 26494722

Variant Present in the following documents:

• Main text

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: MYH3: R672H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: MYH3: R672H

PubMed Link: 26180627

Variant Present in the following documents:

• Main text
• 13395_2015_Article_46.pdf

View BVdb publication page

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Nucleic Acids Research

Wang, Kai K; Li, Mingyao M; Hakonarson, Hakon H

Publication Date: 2010-09

Variant appearance in text: MYH3: R672H

PubMed Link: 20601685

Variant Present in the following documents:

• Main text
• gkq603.pdf

View BVdb publication page

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