Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle

por Vydyanath, Anupama, Gurnett, Christina A., Marston, Steve, Luther, Pradeep K.
Publicado 2012

Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome

por Whittle, Julia, Johnson, Aaron, Dobbs, Matthew B., Gurnett, Christina A.
Publicado 2021

Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles

por Ackermann, Maegen A., Ward, Christopher W., Gurnett, Christina, Kontrogianni-Konstantopoulos, Aikaterini
Publicado 2015

Subunit Stoichiometry of Human Muscle Chloride Channels

por Fahlke, Christoph, Knittle, Timothy, Gurnett, Christina A., Campbell, Kevin P., George, Alfred L.
Publicado 1997

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection

por Alvarado, David M., Yang, Ping, Druley, Todd E., Lovett, Michael, Gurnett, Christina A.
Publicado 2014

Clusters of SARS-CoV-2 Infection Across Six Schools for Students with Intellectual and Developmental Disabilities

por Gemmell, Michael, Walsh, Tyler, Sherby, Michael, Imbeah, Adwoa, Bono, Kelly, Baldenweck, Megan, Gurnett, Christina, Newland, Jason G.
Publicado 2023

Rare and de novo duplications containing SHOX in clubfoot

por Sadler, Brooke, Haller, Gabe, Antunes, Lilian, Nikolov, Momchil, Amarillo, Ina, Coe, Bradley, Dobbs, Matthew B., Gurnett, Christina A.
Publicado 2020

Social Determinants of Genetics Referral and Completion Rates Among Child Neurology Patients

por Cole, Jordan J., Sellitto, Angela D., Baratta, Laura Rosa, Huecker, Julia B., Balls-Berry, Joyce E., Gurnett, Christina A.
Publicado 2023

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

por Quiggle, Ashley, Charng, Wu-Lin, Antunes, Lilian, Nikolov, Momchil, Bledsoe, Xavier, Hecht, Jacqueline T., Dobbs, Matthew B., Gurnett, Christina A.
Publicado 2022

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis

por Tang, Nelson L. S., Dobbs, Matthew B., Gurnett, Christina A., Qiu, Yong, Lam, T. P., Cheng, Jack C. Y., Hadley-Miller, Nancy
Publicado 2021

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants

por Miceli, Francesco, Guerrini, Renzo, Nappi, Mario, Soldovieri, Maria Virginia, Cellini, Elena, Gurnett, Christina A., Parmeggiani, Lucio, Mei, Davide, Taglialatela, Maurizio
Publicado 2021

Understanding educators’ perspectives and experiences of COVID-19 in schools serving children with intellectual/developmental disabilities

por Jones, Erin F., Singh, Vini, Holingue, Calliope, Errichetti, Cheryl Lyn, Myers, Linda, Sherby, Michael R., Gurnett, Christina, Newland, Jason, Kalb, Luther
Publicado 2022

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

por Marrus, Natasha, Turner, Tychele N., Forsen, Elizabeth, Bolster, Drew, Marvin, Alison, Whitehouse, Andrew, Klinger, Laura, Gurnett, Christina A., Constantino, J. N.
Publicado 2021

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis

por McAdow, Jennifer, Yang, Shuo, Ou, Tiffany, Huang, Gary, Dobbs, Matthew B., Gurnett, Christina A., Greenberg, Michael J., Johnson, Aaron N.
Publicado 2022

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

por McGregor, Tracy L, Gurnett, Christina A, Dobbs, Matthew B, Wise, Carol A, Morcuende, Jose A, Morgan, Thomas M, Menon, Ramkumar, Muglia, Louis J
Publicado 2011

MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin

por Whittle, Julia, Antunes, Lilian, Harris, Mya, Upshaw, Zachary, Sepich, Diane S, Johnson, Aaron N, Mokalled, Mayssa, Solnica‐Krezel, Lilianna, Dobbs, Matthew B, Gurnett, Christina A
Publicado 2020

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

por Vazquez, Maribel, Chovanec, Jack, Kim, Jiwon, DiMaggio, Thomas, Milner, Joshua D., Francomano, Clair A., Gurnett, Christina A., Ritelli, Marco, Colombi, Marina, Lyons, Jonathan J.
Publicado 2022

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

por Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., Turner, Tychele N.
Publicado 2022

Sex- and Mutation-Specific p53 Gain-of-Function Activity in Gliomagenesis

por Rockwell, Nathan C., Yang, Wei, Warrington, Nicole M., Staller, Max V., Griffith, Malachi, Griffith, Obi L., Gurnett, Christina A., Cohen, Barak A., Baldridge, Dustin, Rubin, Joshua B.
Publicado 2021

The cartilage matrisome in adolescent idiopathic scoliosis

por Wise, Carol A., Sepich, Diane, Ushiki, Aki, Khanshour, Anas M., Kidane, Yared H., Makki, Nadja, Gurnett, Christina A., Gray, Ryan S., Rios, Jonathan J., Ahituv, Nadav, Solnica-Krezel, Lila
Publicado 2020