Personal information

Keywords

Clinical Genetics, inborn errors of metabolism, Neurogenetic disorders, Congenital disorders

Countries

United Arab Emirates

Activities

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Employment (1)

Tawam Hospital: Al Ain, AE

Dr. (Pediatrics)
Employment
Source: Self-asserted source
Aisha AlShamsi

Works (11)

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

JIMD Reports
2025-01 | Journal article
DOI: 10.1002/jmd2.12468
Contributors: Omar Jarrah; Mahmood Nouri; Aisha Al Shamsi
Source: check_circle
Crossref

A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review

Journal of Pediatric Genetics
2024-12 | Journal article
DOI: 10.1055/s-0044-1788252
Contributors: Abdulqader Al Zubaidi; Aisha Al-Shamsi
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Crossref

A Novel Nonsense Homozygous Mutation in <I>SMARCD2</I> Gene Causing Specific Granulocyte Deficiency Type 2: Case Report

International Journal of Immunology
2024-12-31 | Journal article
DOI: 10.11648/j.iji.20241204.11
Contributors: Amna Kuwaiti; Haifa Awadi; Praseetha Kizhakkedath; Ibrahim Baydoun; Mohammed Tabouni; Hiba Alblooshi; Fatma Al-Jasmi; Aisha Shamsi; Hiba Shendi
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Crossref

A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Journal of Diabetes and Endocrine Practice
2024-10 | Journal article
DOI: 10.1055/s-0044-1790536
Contributors: Abdulqader Al Zubaidi; Noura Al Hassani; Raya Almazrouei; Aisha AlShamsi
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Crossref

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

eBioMedicine
2024-09 | Journal article
DOI: 10.1016/j.ebiom.2024.105297
Contributors: Pablo Iruzubieta; César Augusto Pinheiro Ferreira Alves; Aisha M. Al Shamsi; Gehad ElGhazali; Maha S. Zaki; Lorenzo Pinelli; Diego Lopergolo; Bernard P.H. Cho; Amy A. Jolly; Amna Al Futaisi et al.
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Crossref

A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.

Journal of Biochemical and Clinical Genetics
2022 | Journal article
DOI: 10.24911/JBCGenetics/183-1645370249
Contributors: Abdulla Alblooshi; Aisha Al-Shamsi
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Crossref

Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review

Molecular Genetics & Genomic Medicine
2022-11 | Journal article
DOI: 10.1002/mgg3.2052
Contributors: Omnia Elsayed; Aisha Al‐Shamsi
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Crossref

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

Clinical Genetics
2022-04 | Journal article
DOI: 10.1111/cge.14107
Contributors: Hanadi A. Abdelrahman; Nadia Akawi; Aisha M. Al‐Shamsi; Amanat Ali; Fatma Al‐Jasmi; Anne John; Jozef Hertecant; Lihadh Al‐Gazali; Bassam R. Ali
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Crossref

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.

Biological psychiatry
2022-01 | Journal article
DOI: 10.1016/j.biopsych.2021.12.017
PMID: 35227461
Contributors: Al-Amri AH; Armstrong P; Amici M; Ligneul C; Rouse J; El-Asrag ME; Pantiru A; Vancollie VE; Ng HWY; Ogbeta JA et al.
Source: Self-asserted source
Aisha AlShamsi via Europe PubMed Central

Spectrum of neuro‐genetic disorders in the United Arab Emirates national population

Clinical Genetics
2021-11 | Journal article
DOI: 10.1111/cge.14044
Contributors: Sirine Saleh; Ela Beyyumi; Aysha Al Kaabi; Jozef Hertecant; Doaa Barakat; Noura S. Al Dhaheri; Lihadh Al‐Gazali; Aisha Al Shamsi
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Crossref

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Molecular Genetics & Genomic Medicine
2020-11 | Journal article
DOI: 10.1002/mgg3.1514
Contributors: Aisha Al Shamsi; Noura Al Hassani; Moustafa Hamchou; Raya Almazrouei; Aziz Mhanni
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Crossref

Peer review (1 review for 1 publication/grant)

Review activity for Communications medicine. (1)
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