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1

Novel Homozygous Variants of SLC13A5 Expand the Functional ..:

Alsemari, Abdulaziz ; Guzmán-Vega, Francisco J. ; Meyer, Brian F..
Pediatric Neurology. 151 (2024) - p. 68-72 , 2024

Link: https://doi.org/10.1016/..

2

Protein function prediction as approximate semantic entailm..:

Kulmanov, Maxat ; Guzmán-Vega, Francisco J. ; Duek Roggli, Paula...
Nature Machine Intelligence. , 2024

Link: https://doi.org/10.1038/..

3

Expanding the genotype-phenotype landscape of PDE10A-associ..:

Bohlega, Saeed ; Abusrair, Ali H. ; Al-Qahtani, Zainah...
Parkinsonism & Related Disorders. 108 (2023) - p. 105323 , 2023

Link: https://doi.org/10.1016/..

4

An open-source, automated, and cost-effective platform for ..:

Ramos-Mandujano, Gerardo ; Grünberg, Raik ; Zhang, Yingzi...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

Expanding the genotype-phenotype landscape of PDE10A-associ..:

Bohlega, Saeed ; Al-Qahtani, Zainah ; Guzmán-Vega, Francisco J....
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

6

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndro..:

Khan, Amjad ; Bruno, Lucia Pia ; Alomar, Fadhel...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Clinical and Genetic Characterization of Craniosynostosis i..:

Alghamdi, Malak ; Alhumsi, Taghreed R. ; Altweijri, Ikhlass...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

Delineating the molecular and phenotypic spectrum of the SE..:

Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J....
Genetics in Medicine. 23 (2021) 11 - p. 2122-2137 , 2021

Link: https://doi.org/10.1038/..

9

The genome of the zoonotic malaria parasite Plasmodium simi..:

Mourier, Tobias ; de Alvarenga, Denise Anete Madureira ; Kaushik, Abhinav...
BMC Biology. 19 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

10

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two S..:

Alghamdi, Malak Ali ; Mulla, Jaazeel ; Saheb Sharif-Askari, Narjes...
Frontiers in Immunology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

11

Novel Missense Variant in Heterozygous State in the BRPF1 G..:

Naseer, Muhammad Imran ; Abdulkareem, Angham Abdulrahman ; Guzmán-Vega, Francisco J....
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

12

Interleukin-26 activates macrophages and facilitates killin..:

Hawerkamp, Heike C. ; van Geelen, Lasse ; Korte, Jan...
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

13

Truncating biallelic variant in DNAJA1, encoding the co-cha..:

Alsahli, Saud ; Alfares, Ahmed ; Guzmán-Vega, Francisco J....
neurogenetics. 20 (2019) 2 - p. 109-115 , 2019

Link: https://doi.org/10.1007/..

14

Biallelic UFM1 and UFC1 mutations expand the essential role..:

Nahorski, Michael S ; Maddirevula, Sateesh ; Ishimura, Ryosuke...
Brain. 141 (2018) 7 - p. 1934-1945 , 2018

Link: https://doi.org/10.1093/..

15

Novel homozygous variants of SLC13A5 expand the Functional ..:

Alsemari, Abdulaziz ; Guzmán-Vega, Francisco J ; Meyer, Brian F.
https://linkinghub.elsevier.com/retrieve/pii/S0887899423003557. , 2023

Link: https://doi.org/10.1016/..

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