Aisha Al‐Shamsi

925 citations

29 papers · 466 indexed · h-index 13

Impact in

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders
Biochemistry top 10%
- Amino Acid Enzymes and Metabolism

Papers in

Clinical Biochemistry 7
- Metabolism and Genetic Disorders 7
Genetics 16
- Genomics and Rare Diseases 7
- Genetics and Neurodevelopmental Disorders 6
- Connective tissue disorders research 3

Co-authors: Bassam R. Ali Lihadh Al‐Gazali Jozef Hertecant Salma Ben‐Salem Fatma Al‐Jasmi Abdul‐Kader Souid Anne John Nadia Akawi
Journals: Journal of Molecular Neuroscience (4 papers)Orphanet Journal of Rare Diseases (2 papers)Journal of Pediatric Genetics (2 papers)Child s Nervous System (1 paper)Scientific Reports (1 paper)
Partner nations: United Arab Emirates United States United Kingdom

In The Last Decade

Aisha Al‐Shamsi

26 papers receiving 465 citations

Peers

Countries citing papers authored by Aisha Al‐Shamsi

Since Specialization

Citations

This map shows the geographic impact of Aisha Al‐Shamsi's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Aisha Al‐Shamsi with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Aisha Al‐Shamsi more than expected).

Fields of papers citing papers by Aisha Al‐Shamsi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Aisha Al‐Shamsi. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Aisha Al‐Shamsi. The network helps show where Aisha Al‐Shamsi may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Aisha Al‐Shamsi, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Aisha Al‐Shamsi Line = papers co-authored together Aisha Al‐Shamsi links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	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 ·M. A. Sharar, Aisha Al‐Shamsi	2024	0
2	A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE M. A. Sharar, IM Hidayat, V. Pleskot, Aisha Al‐Shamsi	2024	0
3	A Novel Heterozygous Splice Donor Variant in TRIM28 Gene Causing Beckwith-Wiedemann Spectrum: Case Report and Literature Review 裕子伊瀬知, 丁国凯, Aisha Al‐Shamsi	2024	1
4	Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive Clinical Genetics ·Asieh Orcid Abbassi Daloii, Nadia Akawi, Aisha Al‐Shamsi, Amanat Ali, 董惠霖, Anne John, Jozef Hertecant, Lihadh Al‐Gazali, Bassam R. Ali	2022	4
5	Severe Prolonged SGLT2i-induced Euglycemic Diabetic Ketoacidosis Refractory to Standard Therapy and Dialysis: Case Report and Literature Review Oman Medical Journal ·V. Pleskot, Tomislav Pađen, Aisha Al‐Shamsi, 张衍霞, M.F. Loureiro, Masood ur Rahman	2021	6
6	Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities Journal of Molecular Neuroscience ·So Yuncho, Aisha Al‐Shamsi, Bassam R. Ali, Lihadh Al‐Gazali	2019	11
7	A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity Journal of Molecular Neuroscience ·El Comité Científico de la Xxii Reunión Científica, Cláudio Boschi, Mohammad A. Ghattas, Absm Rupan Ali Talucdher, Aisha Al‐Shamsi, Taleb M. Almansoori, Lihadh Al‐Gazali, Osama Y. Al-Dirbashi, Fatma Al‐Jasmi, Bassam R. Ali	2019	3
8	Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus BMC Medical Genetics ·Haneen S Ayyoubi, Aisha Al‐Shamsi, Jehan Suleiman, Salma Ben‐Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al‐Gazali	2018	10
9	Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy Journal of Medical Genetics ·Salma Ben‐Salem, Isioma Kemakolam, Nara L. M. Sobreira, Angeline M. Lyon, Aisha Al‐Shamsi, Barira Islam, Nadia Akawi, Anne John, Justyna Antonik, N. Barnes, David Valle, Bassam R. Ali, Lihadh Al‐Gazali	2017	7
10	Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates Orphanet Journal of Rare Diseases ·Aisha Al‐Shamsi, Jozef Hertecant, Abdul‐Kader Souid, Fatma Al‐Jasmi	2016	38
11	A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child Journal of Molecular Neuroscience ·郭若虚, Aisha Al‐Shamsi, Salma Ben‐Salem, Bassam R. Ali, Lihadh Al‐Gazali	2015	42
12	Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings American Journal of Medical Genetics Part A ·Salma Ben‐Salem, Nara Sobreira, Nadia Akawi, Aisha Al‐Shamsi, Anne John, Justyna Antonik, David Valle, Bassam R. Ali, Lihadh Al‐Gazali	2015	11
13	Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014) JIMD Reports ·Fatma Al‐Jasmi, Aisha Al‐Shamsi, Jozef Hertecant, O Brunner, Abdul‐Kader Souid	2015	23
14	Mutation spectrum of Joubert syndrome and related disorders among Arabs Human Genome Variation ·Salma Ben‐Salem, Aisha Al‐Shamsi, Joseph G. Gleeson, Bassam R. Ali, Lihadh Al‐Gazali	2014	30
15	The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE Child s Nervous System ·Salma Ben‐Salem, Aisha Al‐Shamsi, Bassam R. Ali, Lihadh Al‐Gazali	2014	7
16	Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay Metabolic Brain Disease ·Salma Ben‐Salem, Joseph G. Gleeson, Aisha Al‐Shamsi, Barira Islam, Jozef Hertecant, Bassam R. Ali, Lihadh Al‐Gazali	2014	35
17	Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates Sultan Qaboos University medical journal ·Aisha Al‐Shamsi, Jozef Hertecant, O Brunner, Abdul‐Kader Souid, Fatma Al‐Jasmi	2014	29
18	A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy Journal of Molecular Neuroscience ·Salma Ben‐Salem, Aisha Al‐Shamsi, Anne John, Bassam R. Ali, Lihadh Al‐Gazali	2014	36
19	Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability European Journal of Pediatrics ·Aisha Al‐Shamsi, Salma Ben‐Salem, Jozef Hertecant, Fatma Al‐Jasmi	2014	15
20	LINS, a modulator of the WNT signaling pathway, is involved in human cognition Orphanet Journal of Rare Diseases ·Nadia Akawi, Fatma Al‐Jasmi, Aisha Al‐Shamsi, Bassam R. Ali, Lihadh Al‐Gazali	2013	17

About Aisha Al‐Shamsi

Aisha Al‐Shamsi is a scholar working on Clinical Biochemistry, Genetics, Biochemistry, Molecular Biology and Otorhinolaryngology, having authored 29 papers that have together received 466 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (7 papers), Metabolism and Genetic Disorders (7 papers), Genetics and Neurodevelopmental Disorders (6 papers), Amino Acid Enzymes and Metabolism (3 papers), Connective tissue disorders research (3 papers), RNA modifications and cancer (3 papers), Fetal and Pediatric Neurological Disorders (3 papers) and Hedgehog Signaling Pathway Studies (2 papers). The work is most often cited by research in Clinical Biochemistry (107 citations), Biochemistry (47 citations), Genetics (176 citations), Molecular Biology (268 citations) and Rheumatology (46 citations). Aisha Al‐Shamsi has collaborated with scholars based in United Arab Emirates, United States and United Kingdom. Frequent co-authors include Bassam R. Ali, Lihadh Al‐Gazali, Jozef Hertecant, Salma Ben‐Salem, Fatma Al‐Jasmi, Abdul‐Kader Souid, Anne John, Nadia Akawi, Barira Islam and Leo Nijtmans. Their work appears in journals such as Journal of Molecular Neuroscience, Orphanet Journal of Rare Diseases, Journal of Pediatric Genetics, Child s Nervous System and Scientific Reports.

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