Firdous Abdulwahab

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 7 papers. Top paper: “Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update”.

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Frontiers in Genetics(2020)10.3389/fgene.2020.580484

N/A

0DataRank · unranked

24 citations

Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida +25 more

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Journal of Medical Genetics(2022)10.1136/jmg-2022-108821

N/A

0DataRank · unranked

6 citations

Bobby G. Ng, Lama AlAbdi, Paul Daniel James Earnest, Paulina Sosicka, Nisha Patel +6 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder

Clinical Genetics(2024)10.1111/cge.14479

N/A

0DataRank · unranked

2 citations

Hanan E. Shamseldin, Halle M. Fogle, Blake R. Rushing, Reem H. AlMalki, Amal Jaafar +7 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

N/A

0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

medRxiv(2025)10.1101/2025.01.16.25320041

N/A

0DataRank · unranked

0 citations

Hanan E. Shamseldin, Nicole Costantino, JES-Rite Michaels, Sarah L. Sawyer, Matthew Osmond +7 more