Hanan E. Shamseldin

King Faisal Specialist Hospital & Research Centre

Biochemistry, Genetics and Molecular Biology

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 10 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

1.4DataRank · unranked

25 citations

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

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

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

Prenatal Diagnosis(2023)10.1002/pd.6425

N/A

0DataRank · unranked

8 citations

Karin J. Blakemore, Christine Hertenstein, Jena L. Miller, Kristen A. Miller, Hanan E. Shamseldin +11 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

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Nature Medicine(2020)10.1038/s41591-019-0730-x

N/A

0DataRank · unranked

75 citations

Daniel T. Montoro, Hui Min Leung, Jason Yang, Hanan E. Shamseldin, Martin S. Taylor +16 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