Marie T McDonald
5PUBLICATIONS
17CO-AUTHORS
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Publications (5)
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|Dec 04, 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.Hussam Al-Kateb, P Y Billie Au, Siren Berland
|Aug 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.M Makenzie Beaman, Lucia Guidugli, Monia Hammer
|Jun 26, 2023
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.Meg Shieh, Keren Amkraut, Gail A Spiridigliozzi
|Jul 16, 2020
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.H K Robinson, E Zaklyazminskaya, I Povolotskaya
|Jun 08, 2017
Identification of EPCAM mutation: clinical use of microarray.Queenie K-G Tan, Diana M Cardona, Catherine W Rehder
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Frequent Collaborators
1 joint publications
E Zaklyazminskaya
1 joint publications
Y Surikova
1 joint publications
Meg Shieh
1 joint publications
Allyn McConkie-Rosell
1 joint publications
Ave M Lachiewicz
1 joint publications
Marwan Shinawi
1 joint publications
M Makenzie Beaman
1 joint publications
Monia Hammer
1 joint publications
Anne Gregor
1 joint publications
Sangmoon Lee
