Author

Nada F. Alahmady

Imam Abdulrahman Bin Faisal UniversityORCID 0000-0002-6203-2070Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Adriano ChiòiD· 1 shared Ahmad Al KhleifatiD· 1 shared Alan Edward RentoniD· 1 shared Aleksey ShatunoviD· 1 shared Alfredo IacoangeliiD· 1 shared Amal Mohammed AlhashemiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdolmajid Omrani

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJun 29, 2020

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Janel O. Johnson, Ruth Chia, Danny E. Miller…·Bryan J. Traynor

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky