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Employment (1)

King Abdullah University of Science and Technology: Thuwal, Makkah, SA

2018-02-13 to present | Biocurator (CEMSE/CBRC/BORG)
Employment
Source: Self-asserted source
Dr. M. Abdelhakim

Education and qualifications (1)

Assiut University Faculty of Medicine: Assiut, EG

2000-09 to 2008-02-28 | Bachelor degree in Medicine and surgery
Education
Source: Self-asserted source
Dr. M. Abdelhakim

Professional activities (1)

Egyptian Medical Syndicate: Cairo, EG

2008-03-01 to present
Membership
Source: Self-asserted source
Dr. M. Abdelhakim

Works (9)

Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia

2024-12-21 | Preprint
DOI: 10.1101/2024.12.18.628902
Contributors: Maxat Kulmanov; Saeideh Ashouri; Yang Liu; Marwa Abdelhakim; Ebtehal Alsolme; Masao Nagasaki; Yasuyuki Ohkawa; Yutaka Suzuki; Rund Tawfiq; Katsushi Tokunaga et al.
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Crossref

A reference quality, fully annotated diploid genome from a Saudi individual

Scientific Data
2024-11-23 | Journal article
DOI: 10.1038/s41597-024-04121-2
Contributors: Maxat Kulmanov; Rund Tawfiq; Yang Liu; Hatoon Al Ali; Marwa Abdelhakim; Mohammed Alarawi; Hind Aldakhil; Dana Alhattab; Ebtehal A. Alsolme; Azza Althagafi et al.
Source: check_circle
Crossref

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

2023-11-16 | Preprint
DOI: 10.1101/2023.11.16.23298615
Contributors: Şenay Kafkas; Marwa Abdelhakim; Azza Althagafi; Sumyyah Toonsi; Malak Alghamdi; Paul N. Schofield; Robert Hoehndorf
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Crossref

A personal, reference quality, fully annotated genome from a Saudi individual

2022-11-08 | Preprint
DOI: 10.1101/2022.11.05.515129
Contributors: Maxat Kulmanov; Rund Tawfiq; Hatoon Al Ali; Marwa Abdelhakim; Mohammed Alarawi; Hind Aldakhil; Dana Alhattab; Ebtehal A. Alsolme; Azza Althagafi; Angel Angelov et al.
Source: check_circle
Crossref

EMC10 Homozygous Variant Identified in a Family with Global Developmental Delay, Mild Intellectual Disability, and Speech Delay.

Clinical genetics
2020-09-01 | Journal article
DOI: 10.1111/cge.13842
PMID: 32869858
Source: Self-asserted source
Dr. M. Abdelhakim

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

BMC medical genomics
2020-07-17 | Journal article
DOI: 10.1186/s12920-020-00743-8
PMID: 32680510
Source: Self-asserted source
Dr. M. Abdelhakim

DDIEM: drug database for inborn errors of metabolism.

Orphanet journal of rare diseases
2020-06-11 | Journal article
DOI: 10.1186/s13023-020-01428-2
PMID: 32527280
PMC: PMC7291537
Source: Self-asserted source
Dr. M. Abdelhakim

Combining lexical and context features for automatic ontology extension

Journal of Biomedical Semantics
2020-01-13 | Journal article
Source: Self-asserted source
Dr. M. Abdelhakim

PathoPhenoDB: linking human pathogens to their disease phenotypes in support of infectious disease research

2019-06-03 | Journal article
Source: Self-asserted source
Dr. M. Abdelhakim
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