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Author Details

Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
1999
121
28
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37671596Delineating the phenotype of PNPLA8-related mitochondriopathies.Clin Genet2024
36399134Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Genet Med2023
37796616Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.JCI Insight2023
38058759Dandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability.Mol Syndromol2023
37766829X-Linked Hydrocephalus with New <i>L1CAM</i> Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.Mol Syndromol2023
37190898A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.Clin Genet2023
37183573CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.Am J Med Genet A2023
37106064Expanding the phenotypic spectrum and clinical severity associated with WLS gene.J Hum Genet2023
34354232OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.J Hum Genet2022
35830857Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.Am J Hum Genet2022
36588752Further Evidence of a Continuum in the Clinical Spectrum of Dominant <i>PIEZO2</i>-Related Disorders and Implications in Cerebellar Anomalies.Mol Syndromol2022
35896821A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.J Hum Genet2022
34918187DTYMK is essential for genome integrity and neuronal survival.Acta Neuropathol2022
35322404El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.Clin Genet2022
34761517Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Am J Med Genet A2022
34816580Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.Am J Med Genet A2022
34694367Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.Brain2022
33123925A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Neurol Sci2021
34609792Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.Mol Genet Genomic Med2021
34346154Expanding the KIF4A-associated phenotype.Am J Med Genet A2021
34268254Telomerase Dysfunction in the Tumorigenesis of Genetic Disorders.Int J Mol Cell Med2021
34338917Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.Neurogenetics2021
33188300Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.Genet Med2021
33185815Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.J Mol Neurosci2021
33271615Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.Neuropediatrics2021
32222090KBG syndrome in two patients from Egypt.Am J Med Genet A2020
36644229Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.J Pediatr Genet2020
31634935Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.Neuropediatrics2020
31955448Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.Prenat Diagn2020
33456446Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.Front Genet2020
32833257Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.Prenat Diagn2020
32714624Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.J Pediatr Genet2020
32794234Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?"Prenat Diagn2020
32187602Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.Cytogenet Genome Res2020
32267100Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Am J Med Genet A2020
30637988Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.Am J Med Genet A2019
31715598Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.Cytogenet Genome Res2019
30214071Genomic and phenotypic delineation of congenital microcephaly.Genet Med2019
31273323Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.J Hum Genet2019
31530938Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.J Hum Genet2019
31585110Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.Am J Hum Genet2019
31403251Lenz-Majewski syndrome in a patient from Egypt.Am J Med Genet A2019
30778726PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.Hum Genet2019
30912300Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.Am J Med Genet A2019
30575274GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.Am J Med Genet A2019
28640246GWAS signals revisited using human knockouts.Genet Med2018
30244542Phenotypic and molecular insights into PQBP1-related intellectual disability.Am J Med Genet A2018
30216658Warsaw breakage syndrome: Further clinical and genetic delineation.Am J Med Genet A2018
30074067Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.Neuroradiology2018
29450879Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.Clin Genet2018
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Collaborators

Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 49
Joseph G Gleeson
University of California
Co-authored papers 18
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 18
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 11
William B Dobyns
University of Minnesota
Co-authored papers 8
Jennifer L Silhavy
University of California
Co-authored papers 5
Laila Selim
Cairo University
Co-authored papers 5
H??lya Kayserili
Istanbul University
Co-authored papers 4
Tawfeg Ben-Omran
Hamad Medical Corporation.
Co-authored papers 4
Matloob Azam
Wah Medical College
Co-authored papers 4
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 3
Jana Schroth
University of California
Co-authored papers 3
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Keith K Vaux
university of california san diego Health Physician Network
Co-authored papers 3
James R Lupski
Baylor College of Medicine
Co-authored papers 3
Lobna Mansour
Cairo University Children Hospital
Co-authored papers 3
Enza Maria Valente
University of Pavia
Co-authored papers 3
Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 3
Elliott H Sherr
Co-authored papers 3
Rasim O Rosti
University of Virginia
Co-authored papers 3
Murat Gunel
Yale School of Medicine
Co-authored papers 3
Lihadh Al-Gazali
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 3
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 3
Sarah E Marsh
University of Wisconsin
Co-authored papers 3
Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 3
Naiara Akizu
University of Pennsylvania
Co-authored papers 3
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 3
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
Bruno Dallapiccola
Co-authored papers 2
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