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Nebal Waill Saadi

Observed names: N. Waill Saadi, Nebal Waill Saadi, Nebal Saadi, Nebal W. Saadi, Nebal W. Saadi Al-Dabbas, Saadi, Nebal Waill
ORCID: 0000-0001-7523-6833
Observed ORCID: 0000-0001-7523-6833
OpenAlex ID: A5029112020
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 249
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
2019 · Laura V. Vandervore, Rachel Schot, et al. · The American Journal of Human Genetics · 47
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
2021 · Linyan Meng, Pirjo Isohanni, et al. · Annals of Neurology · 25
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
2023 · Reza Maroofian, Rauan Kaiyrzhanov, et al. · Brain · 21
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A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
2021 · Ruizhi Duan, Nebal Waill Saadi, et al. · American Journal of Medical Genetics Part A · 20
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022 · Elisa Calì, Sheng-Jia Lin, et al. · Genetics in Medicine · 17
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
2021 · Quentin Thomas, Thierry Gautier, et al. · Genetics in Medicine · 16
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients
2018 · Gilles Morin, Maria Nouri, et al. · Neuropediatrics · 16
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
2022 · Dana Marafi, Nina Kozar, et al. · The American Journal of Human Genetics · 13
Clinical and molecular characterization of patients with YWHAG ‐related epilepsy
2024 · Valentina Cetica, Tiziana Pisano, et al. · Epilepsia · 10
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023 · Vincenzo Salpietro, Reza Maroofian, et al. · The American Journal of Human Genetics · 9
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
2022 · Daniel G. Calame, Isabella Herman, et al. · Annals of Neurology · 9
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Expanding the phenotype of PPP1R21 ‐related neurodevelopmental disorder
2024 · Mohammed Almannai, Dana Marafi, et al. · Clinical Genetics · 7
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HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
2025 · Clara Houdayer, A. Marie Phillips, et al. · Annals of Neurology · 6
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024 · Elisa Cali, Tania Quirin, et al. · Genetics in Medicine · 5
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Principles and Practice of Child Neurology in Infancy
2013 · Nebal Waill Saadi · European Journal of Paediatric Neurology · 3
Molecular Genetic Testing in Pediatric and Adult Neurology in Iraq: New Experience and Challenges from a Developing Country
2020 · Nebal Waill Saadi, Batool Ali Ghalib Yassin, et al. · Journal of Pediatric Neurology · 2
13-year diagnostic delay as cerebral palsy of an Iraqi patient with NBIA type 4
2019 · Ameer Shaker Hadi, Nebal Waill Saadi, et al. · Neurology Clinical Practice · 2
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Risk Factors & Clinical Patterns of Cerebral Palsy in Children Welfare Teaching Hospital in Baghdad
2011 · Mahjoob N. Al-Naddawi, Nebal Waill Saadi, et al. · Iraqi Academic Scientific Journal · 2
Neurological manifestations and genotype–phenotype correlations in NDUFAF6 -associated mitochondrial disease
2026 · Alessandra Torraco, Charlotte L Alston, et al. · Brain Communications · 1
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre
2025 · Mays R. Al-Tai, Adel A. Kareem, et al. · Molecular Genetics and Metabolism Reports · 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
2024 · Clara Houdayer, A Marie Phillips, et al. · medRxiv · 1
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Bi-allelic variants in the ectonucleotidase ENTPD1 cause a complex neurological disease consisting of intellectual disability, brain abnormalities, and spastic paraplegia (2093)
2021 · Daniel Calame, Isabella Herman, et al. · Neurology · 1
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant
2026 · Mays Riyadh Al Tai, Nebal Waill Saadi, et al. · Molecular Genetics and Metabolism Reports
Clinical and Genetic Spectrum of SCN8A -Related Disorders: A Retrospective Study From the Gulf Region
2025 · Osama Muthaffar, Mashael Alsubhan, et al. · Journal of Child Neurology
Works count: 41
Citation count: 482
H-index: 10
I10-index: 10
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