Thomas A Cassini (Thomas Cassini)

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 3

Top Topics

Health Promotion

Dna Methylation

Top Venues

Molecular genetics & genomic medicine

Journal of inherited metabolic disease

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Carolina Montano, Thomas A Cassini, Shira G Ziegler, Manfred Boehm, Elena-Raluca Nicoli, Joseph A Mindell, Ariane G Soldatos, Irini Manoli, Lynne A Wolfe, Ellen F Macnamara, May Christine V Malicdan, David R Adams, Cynthia J Tifft, Camilo Toro, William A Gahl
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. Journal of inherited metabolic disease 45 (5) (2022)
Thomas A Cassini, Laura Duncan, Lynette C Rives, John H Newman, John A Phillips, Mary E Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, null null
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms. Molecular genetics & genomic medicine 7 (6) (2019)
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips, null null
Phenotypic heterogeneity of ZMPSTE24 deficiency. American journal of medical genetics. Part A 176 (5) (2018)