Research output per year
Research output per year
Personal profile
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ASSISTANT PROFESSOR | Genetics and Genomic Sciences, ASSISTANT PROFESSOR | Pediatrics
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Dive into the research topics where Mafalda Barbosa is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Contribution of autosomal rare and de novo variants to sex differences in autism
Autism Sequencing Consortium & APEX Consortium, 6 Mar 2025, In: American Journal of Human Genetics. 112, 3, p. 599-614 16 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S. & Steiner, L. & 5 others, , Jun 2024, In: American Journal of Kidney Diseases. 83, 6, p. 829-833 5 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Genomics England Research Consortium & Project MinE ALS Sequencing Consortium, Nov 2024, In: Nature Genetics. 56, 11, p. 2322-2332 11 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
The Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG) & iPSYCH-Broad Consortium, Sep 2022, In: Nature Genetics. 54, 9, p. 1320-1331 12 p.Research output: Contribution to journal › Article › peer-review
Open Access244 Scopus citations -
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Breen, M. S., Garg, P., Tang, L., Mendonca, D., Levy, T., Barbosa, M., Arnett, A. B., Kurtz-Nelson, E., Agolini, E., Battaglia, A., Chiocchetti, A. G., Freitag, C. M., Garcia-Alcon, A., Grammatico, P., Hertz-Picciotto, I., Ludena-Rodriguez, Y., Moreno, C., Novelli, A., Parellada, M. & Pascolini, G. & 9 others, , 3 Sep 2020, In: American Journal of Human Genetics. 107, 3, p. 555-563 9 p.Research output: Contribution to journal › Article › peer-review
Open Access34 Scopus citations
Press/Media
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Sandin, S. S., De Rubeis, S., Kolevzon, A., Buxbaum, J., Mahjani, B. & Barbosa, M.
18/08/22
1 item of Media coverage
Press/Media