Joel A Morales-Rosado (J A Morales Rosado)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 6

Top Topics

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

Nature medicine

Cold Spring Harbor molecular case studies

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

Publications

Erica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia, Christopher T Schmitz, Björn Oskarsson, Eric W Klee, Klaas J Wierenga
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome. Molecular genetics & genomic medicine 10 (7) (2022)
Joel A Morales-Rosado, Herchran Singh, Rory J Olson, Brandon T Larsen, Megan M Hager, Eric W Klee, Radhika Dhamija
Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review. American journal of medical genetics. Part A 185 (6) (2021)
Joel A Morales-Rosado, Erica L Macke, Margot A Cousin, Gavin R Oliver, Radhika Dhamija, Eric W Klee
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. Molecular genetics & genomic medicine 8 (9) (2020)
Erica L Macke, Joel A Morales-Rosado, Aditi Gupta, Christopher T Schmitz, Teresa Kruisselbrink, Brendan Lanpher, Eric W Klee
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C. Cold Spring Harbor molecular case studies 6 (4) (2020)
Joseph J Grzymski, G Elhanan, Joel A Morales-Rosado, E Smith, Karen A Schlauch, Robert W Read, C Rowan, N Slotnick, Shaun Dabe, W J Metcalf, B Lipp, H Reed, L Sharma, E Levin, J Kao, Misha D Rashkin, J Bowes, K Dunaway, A Slonim, Nicole L Washington, M Ferber, A Bolze, James T Lu
Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nature medicine 26 (8) (2020)
Joel A Morales-Rosado, Charu Kaiwar, Benn E Smith, Eric W Klee, Radhika Dhamija
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. American journal of medical genetics. Part A 176 (12) (2018)