Hasnaa M. Elbendary

Biochemistry, Genetics and Molecular BiologyMedicine

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: “Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder”.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

BMC Medical Genomics(2020)10.1186/s12920-020-0714-1

N/A

0DataRank · unranked

14 citations

Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy‐Venneri, Denice Belandres +7 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 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

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits

Clinical Genetics(2023)10.1111/cge.14348

N/A

0DataRank · unranked

7 citations

Dana Marafi, Ahmed K. Saad, Rasha M. Elhossini, Ruizhi Duan, Karima Rafat +8 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more