Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families

por Lowe, Tracy, DeLuca, Jane, Abenavoli, Ludovico, Boccuto, Luigi
Publicado 2023

A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence

por Coovadia, Adam, Boccuto, Luigi, Chang, Yenui, DeLuca, Jane
Publicado 2023

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

por Lowe, Tracy Brock, DeLuca, Jane, Arnold, Georgianne L.
Publicado 2020

Providers’ Perspectives Related to Parents’ Choice of Pediatric Provider of Record and Newborn Screening: A Qualitative Study

por Lowe, Tracy, Boyd, Jessica, Shu, Lina, DeLuca, Jane M.
Publicado 2023

Genetics providers’ experiences using telehealth: A grounded theory approach

por Beretich, Lauren A., Sarasua, Sara M., DeLuca, Jane M.
Publicado 2022

Weight Loss Is a Strong Predictor of Memory Disorder Independent of Genetic Influences

por Chen, Sunny, Sarasua, Sara M., Davis, Nicole J., DeLuca, Jane M., Thielke, Stephen M., Yu, Chang-En
Publicado 2023

Tremors: A concept analysis

por Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah W., Skinner, Steven A., DeLuca, Jane M.
Publicado 2021

Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

por Sarasua, Sara M., DeLuca, Jane M., Rogers, Curtis, Phelan, Katy, Rennert, Lior, Powder, Kara E., Weisensee, Katherine, Boccuto, Luigi
Publicado 2023

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

por McCoy, Megan D., Sarasua, Sara M., DeLuca, Jane M., Davis, Stephanie, Phelan, Katy, Rogers, Roger Curtis, Boccuto, Luigi
Publicado 2022

TOMM40 genetic variants associated with healthy aging and longevity: a systematic review

por Chen, Sunny, Sarasua, Sara M., Davis, Nicole J., DeLuca, Jane M., Boccuto, Luigi, Thielke, Stephen M., Yu, Chang-En
Publicado 2022

Clinical findings from the landmark MEF2C ‐related disorders natural history study

por Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.
Publicado 2022