Publications:

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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Frontiers In Genetics

Dabaj, Ivana I; Carlier, Robert Y RY; Dieterich, Klaus K; Desguerre, Isabelle I; Faure, Julien J; Romero, Norma B NB; Trang, Wenting W; Quijano-Roy, Susana S; Germain, Dominique P DP

Publication Date: 2022

Variant appearance in text: MYH3: R672C

PubMed Link: 36968005

Variant Present in the following documents:

• fgene-13-955041.pdf

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Medrxiv : The Preprint Server For Health Sciences

Chong, Jessica X JX; Childers, Matthew Carter MC; Marvin, Colby T CT; Marcello, Anthony J AJ; Gonorazky, Hernan H; Hazrati, Lili-Naz LN; Dowling, James J JJ; Amrani, Fatema Al FA; Alanay, Yasemin Y; Nieto, Yolanda Y; Marín Gabriel, Miguel Á MÁ; Aylsworth, Arthur S AS; Buckingham, Kati J KJ; Shively, Kathryn M KM; Sommers, Olivia O; Anderson, Kailyn K; , ; , ; Regnier, Michael M; Bamshad, Michael J MJ

Publication Date: 2023-03-09

Variant appearance in text: MYH3: R672C

PubMed Link: 36945405

Variant Present in the following documents:

• nihpp-2023.03.07.23286862v1.pdf

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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: 2014C>T; Arg672Cys

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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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: 2014C>T; Arg672Cys

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913618

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913618

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Genes

Dahan-Oliel, Noémi N; Dieterich, Klaus K; Rauch, Frank F; Bardai, Ghalib G; Blondell, Taylor N TN; Gustafson, Anxhela Gjyshi AG; Hamdy, Reggie R; Latypova, Xenia X; Shazand, Kamran K; Giampietro, Philip F PF; van Bosse, Harold H

Publication Date: 2021-08-06

Variant appearance in text: MYH3: R672C

PubMed Link: 34440395

Variant Present in the following documents:

• genes-12-01220.pdf

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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: Arg672Cys

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.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: 2014C>T; R672C

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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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: R672C

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: R672C

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: R672C

PubMed Link: 30379605

Variant Present in the following documents:

• Main text
• mbc-30-30.pdf

View BVdb publication page

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Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery.

Case Reports In Anesthesiology

Viehmeyer, S S; Gabriel, P P; Bauer, K K; Bauer, S S; Sodian, R R; Hilberath, J N JN

Publication Date: 2018

Variant appearance in text: MYH3: R672C

PubMed Link: 29666709

Variant Present in the following documents:

• CRIA2018-7862327.pdf

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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: Arg672Cys

PubMed Link: 28584669

Variant Present in the following documents:

• Main text
• CRIG2017-9327169.pdf

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A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

Scientific Reports

Zieba, Jennifer J; Zhang, Wenjuan W; Chong, Jessica X JX; Forlenza, Kimberly N KN; Martin, Jorge H JH; Heard, Kelly K; Grange, Dorothy K DK; Butler, Merlin G MG; Kleefstra, Tjitske T; Lachman, Ralph S RS; Nickerson, Deborah D; Regnier, Michael M; Cohn, Daniel H DH; Bamshad, Michael M; Krakow, Deborah D

Publication Date: 2017-02-16

Variant appearance in text: MYH3: R672C

PubMed Link: 28205584

Variant Present in the following documents:

• Main text
• srep41803.pdf

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: R672C

PubMed Link: 26945064

Variant Present in the following documents:

• Main text
• zbc10318.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: R672C

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: R672C

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: R672C

PubMed Link: 26180627

Variant Present in the following documents:

• Main text
• 13395_2015_Article_46.pdf

View BVdb publication page

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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: 2014C>T; Arg672Cys

PubMed Link: 25957469

Variant Present in the following documents:

• Main text

View BVdb publication page

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The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Human Molecular Genetics

Racca, Alice W AW; Beck, Anita E AE; McMillin, Margaret J MJ; Korte, F Steven FS; Bamshad, Michael J MJ; Regnier, Michael M

Publication Date: 2015-06-15

Variant appearance in text: MYH3: R672C

PubMed Link: 25740846

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MYH3: R672C

PubMed Link: 25326804

Variant Present in the following documents:

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

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: R672C

PubMed Link: 20601685

Variant Present in the following documents:

• Main text
• gkq603.pdf

View BVdb publication page

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