Lama AlAbdi

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 18 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

Misregulation of the expression and activity of DNA methyltransferases in cancer

NAR Cancer(2021)10.1093/narcan/zcab045

N/A

0.515DataRank · unranked

30 citations

Allison B. Norvil, Lama AlAbdi, Sarah McGovern, Christopher J. Petell, Ming He +2 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

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0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

Research Square(2021)10.21203/rs.3.rs-622797/v1

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0.104DataRank · unranked

1 citations

Lama AlAbdi, Xiaoyu Peng, Tina Beyer, Atiyye Zorluer, Mustafa Samet Pir +15 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

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0DataRank · unranked

6 citations

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

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.07.021

N/A

0DataRank · unranked

4 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +15 more

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Nature Communications(2023)10.1038/s41467-023-41985-1

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0DataRank · unranked

22 citations

Hiroyuki Kuwahara, Ningning Chen, Mais O. Hashem, Lama AlAbdi, Mohamed Abouelhoda +8 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

SLK is mutated in individuals with a neurodevelopmental disorder

EBioMedicine(2025)10.1016/j.ebiom.2025.105725

N/A

0DataRank · unranked

2 citations

Norah Altuwaijri, Jun‐yi Zhu, Stéphanie Efthymiou, Hangnoh Lee, Jianli Duan +94 more

Oct4-Mediated Inhibition of Lsd1 Activity Promotes the Active and Primed State of Pluripotency Enhancers

Cell Reports(2020)10.1016/j.celrep.2019.11.040

N/A

0DataRank · unranked

39 citations

Debapriya Saha, Ming He, Mohd Saleem Dar, Sagar M. Utturkar, Putu Ayu Sudyanti +6 more

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders(2025)10.1002/mds.30249

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0DataRank · unranked

1 citations

Noam Hadar, Eyal Kristal, Nicola Roberts, Vadim Dolgin, Ilana Aminov +17 more

The acute myeloid leukemia variant DNMT3A Arg882His is a DNMT3B-like enzyme

Nucleic Acids Research(2020)10.1093/nar/gkaa139

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0DataRank · unranked

28 citations

Lama AlAbdi, Bigang Liu, Yu Han Tu, Nicole E Forstoffer, Amie R. Michie +3 more

Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects

Brain(2022)10.1093/brain/awac364

N/A

0DataRank · unranked

39 citations

Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani +23 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

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more