Deciphering congenital anomalies for the next generation

بواسطة Wojcik, Monica H., Agrawal, Pankaj B.
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2020)

Genetic Diagnosis in the Fetus

بواسطة Wojcik, Monica H, Reimers, Rebecca, Poorvu, Tabitha, Agrawal, Pankaj B.
الحاوية / القاعدة J Perinatol (2020)

Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease

بواسطة Luo, Shiyu, Rosen, Samantha M., Li, Qifei, Agrawal, Pankaj B.
الحاوية / القاعدة Int J Mol Sci (2021)

Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy

بواسطة Pierson, Christopher R., Agrawal, Pankaj B., Blasko, Jessica, Beggs, Alan H.
منشور في 2007

The Impact of the Orphan Drug Act on FDA-Approved Therapies for Rare Skin Diseases and Skin-Related Cancers

بواسطة Karas, Laura, Lu, Christine Y., Agrawal, Pankaj B., Asgari, Maryam M.
الحاوية / القاعدة J Am Acad Dermatol (2019)

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle mai...

بواسطة Agrawal, Pankaj B., Joshi, Mugdha, Savic, Talia, Chen, Zoe, Beggs, Alan H.
منشور في 2012

Prenatal Diagnosis of a Ventral Abdominal Wall Defect

بواسطة Beam, Kristyn, Wojcik, Monica H., Agrawal, Pankaj B., Smithers, Charles, Estroff, Judy
الحاوية / القاعدة Neoreviews (2020)

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

بواسطة Morton, Sarah U., Joshi, Mugdha, Savic, Talia, Beggs, Alan H., Agrawal, Pankaj B.
الحاوية / القاعدة PLoS One (2015)

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype

بواسطة Rosen, Samantha M, Joshi, Mugdha, Hitt, Talia, Beggs, Alan H, Agrawal, Pankaj B
الحاوية / القاعدة Hum Mol Genet (2020)

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

بواسطة Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.
الحاوية / القاعدة Circ Genom Precis Med (2021)

Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation

بواسطة Li, Qifei, Lin, Jasmine, Rosen, Samantha M., Zhang, Tian, Kazerounian, Shideh, Luo, Shiyu, Agrawal, Pankaj B.
الحاوية / القاعدة Am J Pathol (2020)

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations

بواسطة Katwa, Umakanth, D'Gama, Alissa M., Qualls, Anita E., Donovan, Lucas M., Heffernan, Jody, Shi, Jiahai, Agrawal, Pankaj B.
الحاوية / القاعدة Am J Med Genet A (2018)

Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

بواسطة Wojcik, Monica H., Schwartz, Talia S., Yamin, Inbar, Edward, Heather L., Genetti, Casie A., Towne, Meghan C., Agrawal, Pankaj B.
الحاوية / القاعدة Genet Med (2018)

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

بواسطة VanNoy, Grace E., Wojcik, Monica H., Genetti, Casie A., Mullen, Thomas E., Agrawal, Pankaj B., Stein, Deborah R.
الحاوية / القاعدة Kidney Int Rep (2020)

microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy

بواسطة Morton, Sarah U., Sefton, Christopher R., Zhang, Huanqing, Dai, Manhong, Turner, David L., Uhler, Michael D., Agrawal, Pankaj B.
الحاوية / القاعدة Int J Mol Sci (2021)

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings

بواسطة Touma, Marlin, Joshi, Mugdha, Connolly, Meghan C., Grant, P. Ellen, Hansen, Anne R., Khwaja, Omar, Berry, Gerard T., Kinney, Hannah C., Poduri, Annapurna, Agrawal, Pankaj B.
منشور في 2013

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

بواسطة Lacy, Jessica N., Ulirsch, Jacob C., Grace, Rachael F., Towne, Meghan C., Hale, John, Mohandas, Narla, Lux, Samuel E., Agrawal, Pankaj B., Sankaran, Vijay G.
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2016)

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

بواسطة Palmer, Samantha, Towne, Meghan C., Pearl, Phillip L., Pelletier, Renee C., Genetti, Casie A., Shi, Jiahai, Beggs, Alan H., Agrawal, Pankaj B., Brownstein, Catherine A.
الحاوية / القاعدة Pediatr Neurol (2016)

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

بواسطة Morton, Sarah U., Neilan, Edward G., Peake, Roy W. A., Shi, Jiahai, Schmitz-Abe, Klaus, Towne, Meghan, Markianos, Kyriacos, Prabhu, Sanjay P., Agrawal, Pankaj B.
الحاوية / القاعدة JIMD Rep (2016)

Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure

بواسطة Shu, Chang, Huang, He, Xu, Ying, Rota, Marcello, Sorrentino, Andrea, Peng, Yuan, Padera, Robert F., Huntoon, Virginia, Agrawal, Pankaj B., Liu, Xiaoli, Perrella, Mark A.
الحاوية / القاعدة Front Physiol (2018)