Almundher Al‐Maawali

Medicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder”.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Research Square(2022)10.21203/rs.3.rs-2121654/v1

N/A

0DataRank · unranked

0 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Human Genetics(2023)10.1007/s00439-023-02528-2

N/A

0DataRank · unranked

6 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder

medRxiv(2023)10.1101/2023.10.24.23297197

N/A

0DataRank · unranked

2 citations

Sara W. Leung, Lauryn A. Cureton, Maha Al-Awadi, Adila Al‐Kindy, Sohail Khoshnevis +4 more

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation

Journal of Biological Chemistry(2024)10.1016/j.jbc.2024.107571

N/A

0DataRank · unranked

13 citations

Sara W. Leung, Lauryn A. Cureton, Maha Al-Awadi, Adila Al‐Kindy, Ambro van Hoof +5 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more