Isolated left common carotid artery in an infant with pulmonary atresia and intact ventricular septum

por Cohen, Jennifer L, Stanford, Nicole, Torres, Alejandro
Publicado 2019

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features

por Buehne, Kristen L., Hart, Sarah, Williams, Bradley, Cohen, Jennifer L.
Publicado 2022

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

por Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.
Publicado 2022

Targeted Therapy for Pulmonary Hypertension in Premature Infants

por Nees, Shannon N., Rosenzweig, Erika B., Cohen, Jennifer L., Valencia Villeda, Gerson A., Krishnan, Usha S.
Publicado 2020

Genetic variation associated with childhood and adult stature and risk of MYCN‐amplified neuroblastoma

por Semmes, Eleanor C., Shen, Erica, Cohen, Jennifer L., Zhang, Chenan, Wei, Qingyi, Hurst, Jillian H., Walsh, Kyle M.
Publicado 2020

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

por Cohen, Jennifer L., Burfield, Jessica, Valdez-Gonzalez, Karen, Samuels, Angela, Stefanatos, Arianna K., Yudkoff, Marc, Pedro, Helio, Ficicioglu, Can
Publicado 2019

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

por Beaman, Makenzie, Fisher, Kimberley, McDonald, Marie, Tan, Queenie K. G., Jackson, David, Cocanougher, Benjamin T., Landstrom, Andrew P., Hobbs, Charlotte A., Cotten, Michael, Cohen, Jennifer L.
Publicado 2022

Assisted reproductive technology and association with childhood cancer subtypes

por Gulrajani, Natalie B., Montes, Samuel, McGough, Daniel, Wimberly, Courtney E., Khattab, Ameera, Semmes, Eleanor C., Towry, Lisa, Cohen, Jennifer L., Hurst, Jillian H., Landi, Daniel, Hill, Sherika N., Walsh, Kyle M.
Publicado 2022