Marie T McDonald (Marie McDonald, M McDonald)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Topics

Dna Methylation

Top Venues

Clinical case reports

Clinical genetics

American journal of medical genetics. Part A

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

Publications

Meg Shieh, Keren Amkraut, Gail A Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie-Rosell, Marie T McDonald, Malinda Pennington, Siby Sebastian, Ave M Lachiewicz
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations. Clinical case reports 11 (6) (2023)
Hussam Al-Kateb, P Y Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, Joel Fluss, Bertrand Isidor, L Matthew Frank, Konstantinos Varvagiannis, David A Koolen, Marie T McDonald, Sarah Montgomery, Stéphanie Moortgat, Marie Deprez, Deniz Karadurmus, Julie Paulsen, André Reis, Melissa Rieger, Georgia Vasileiou, Marcia Willing, Marwan S Shinawi
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. Clinical genetics (2023)
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee, Kristen L Deak, Marie T McDonald, Courtney Jensen, Maha Saad Zaki, Amira T Masri, Charlotte A Hobbs, Joseph G Gleeson, Jennifer L Cohen
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American journal of medical genetics. Part A (2023)
Meg Shieh, Keren Amkraut, Gail A Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie-Rosell, Marie T McDonald, Malinda Pennington, Siby Sebastian, Ave M Lachiewicz
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations. Clinical case reports 11 (6) (2023)
H K Robinson, Zaklyazminskaya Elena, I Povolotskaya, Y Surikova, L Mallin, C Armstrong, D Mabin, P J Benke, M R Chrisant, Marie T McDonald, C C Marboe, K E Agre, D R Deyle, K McWalter, G Douglas, M S Balashova, V Kaimonov, N Shirokova, E Pomerantseva, C L Turner, S Ellard
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy. Clinical genetics 98 (4) (2020)
Queenie K-G Tan, Diana M Cardona, Catherine W Rehder, Marie T McDonald
Identification of EPCAM mutation: clinical use of microarray. Clinical case reports 5 (6) (2017)