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M. El Ruby · SciRah

Researcher profile · Semantic Scholar

M. El Ruby

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M. El Ruby — researcher profile on SciRah

h-index: 9
Works: 35
Citations: 298

Most-cited papers

Williams-Beuren Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, D. D. de Souza, A. Moresco +65 more
2018American Journal of Medical Genetics. Part A66 citations Open access
Semantic Scholar
Phenotypic and cytogenetic spectrum of 9p trisomy.
S. Temtamy, A. Kamel, S. Ismail, N. Helmy +4 more
2007Genetic Counseling53 citations
Semantic Scholar
Rubinstein–Taybi syndrome in diverse populations
C. Tekendo-Ngongang, B. Owosela, Nicole J. Fleischer, Y. Addissie +39 more
2020American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
Turner syndrome in Diverse Populations
P. Kruszka, Y. Addissie, C. Tekendo-Ngongang, Kelly L. Jones +48 more
2019American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
G. Abdel-Salam, L. Flores‐Sarnat, M. El Ruby, J. Parboosingh +6 more
2011American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development
I. Mazen, Heba Amin, A. Kamel, M. El Ruby +3 more
2016Sexual Development13 citations
Semantic Scholar
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
M. Mekkawy, A. Kamel, M. Thomas, E. Ashaat +12 more
2020Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Altered Adaptive Cellular Immune Function in a Group of Egyptian Children with Autism
E. Ashaat, K. H. Taman, N. Kholoussi, M. El Ruby +4 more
201712 citations Open access
Semantic Scholar
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
A. Fayez, M. Aglan, Nora N. Esmaiel, Taher El Zanaty +2 more
2015BioMed Research International11 citations Open access
Semantic Scholar
Detection and putative effect of GATA4 gene variants in patients with congenital cardiac septal defects.
M. A. Al-Azzouny, M. El Ruby, H. Issa, Eman G. Behiry +2 more
2016Cellular and Molecular Biology8 citations
Semantic Scholar
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations
M. Thomas, E. Ashaat, G. Otaify, S. Ismail +7 more
2021Molecular Syndromology7 citations Open access
Semantic Scholar
miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients
A. Fayez, Nora N. Esmaiel, S. Salem, E. Ashaat +2 more
2022Egyptian Heart Journal5 citations Open access
Semantic Scholar
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.
Maha S. Zaki, A. Kamel, L. Effat, M. El Ruby
2012Genetic Counseling5 citations
Semantic Scholar
Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Azza K. Abdelmegeid, Miral M. Refeat, E. Ashaat, Ghada Y El-Kamah +4 more
2022Journal of Genetic Engineering and Biotechnology4 citations Open access
Semantic Scholar
Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome
Khaled M Refaat, N. Helmy, M. Elawady, M. El Ruby +6 more
2021Molecular Syndromology4 citations Open access
Semantic Scholar
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations
R. Elhossini, M. Abdel-Hamid, E. Ashaat, G. Otaify +4 more
2021Congenital Anomalies3 citations
Semantic Scholar
A novel homozygous variant in the TRAPPC9 gene causing intellectual disability and autism Spectrum disorder
E. Ashaat, M. El Ruby, A. Westenberger, S. Ismail +6 more
20203 citations
Semantic Scholar
Mutational pattern in the 5&agr; reductase 2 (SRD5A2) gene in 46,XY Egyptian DSD patients
H. Soliman, K. Amr, M. El Ruby, M. Mekkawy +2 more
20153 citations
Semantic Scholar
Detection of mutations in GATA4 and Nkx2.5 genes in patients with Fallot’s tetralogy
I. R. Hussein, M. El Ruby, Abdelgawad A. Fahmi, M. El-Desouky +1 more
20123 citations
Semantic Scholar
Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Azza K. Abdelmegeid, Miral M. Refeat, E. Ashaat, Ghada Y El-Kamah +4 more
2022Journal of Genetic Engineering and Biotechnology2 citations Open access
Semantic Scholar
Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child
S. Ismail, A. Fayez, G. Otaify, I. Sayed +3 more
20172 citations
Semantic Scholar
Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children
S. El-Saiedi, M. El Ruby, Arwa Ahmad El Darsh
20142 citations Open access
Semantic Scholar
Prediction of the functional consequences of a novel homozygous TBX 5 variant in isolated AVSD patient
A. Fayez, Nora N. Esmaiel, Arwa A. El Darsh, E. Ashaat +4 more
2 citations
Semantic Scholar
New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects
A. Fayez, Nora N. Esmaiel, E. Ashaat, Miral M. Refeat +3 more
2023Journal of Taibah University Medical Sciences1 citations Open access
Semantic Scholar
Association between
Nora N. Esmaiel, E. Ashaat, Ghada M. M. Al-Ettribi, A. Fayez +2 more
20231 citations
Semantic Scholar
Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: Evidence provided via detecting novel nonsense mutation in an Egyptian family
N. Elbagoury, E. Ashaat, Wessam E. Sharaf-Eldin, N. Hassib +4 more
2022Human Gene1 citations
Semantic Scholar
Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients
H. Megahed, E. Ashaat, S. Ismail, Neveen A Ashaat +2 more
2022Middle East Journal of Medical Genetics1 citations Open access
Semantic Scholar
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation
D. Hussen, A. Kamel, M. Mekkawy, E. Ashaat +1 more
2020Molecular Syndromology1 citations Open access
Semantic Scholar
Cytogenetic study of a large cohort of patients with corpus callosum abnormalities
D. Hussen, A. Kamel, M. Mekkawy, A. Mohamed +7 more
20191 citations
Semantic Scholar
Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22
E. Ashaat, S. Ismail, A. Kamel, A. Mohamed +5 more
20181 citations
Semantic Scholar
Assessment of Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic test for Egyptian patients with Williams-Beuren syndrome
K. Amr, H. El-Bassyouni, S. Hammad, E. Ashaat +4 more
20200 citations
Semantic Scholar
Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion
Assad S. Elgerzawy, A. Kamel, M. El Ruby, S. Hammad +5 more
20190 citations
Semantic Scholar
Sclerosteosis-1: Clinical and Molecular Studies in an Egyptian Family
M. Aglan, A. Fayez, M. El Ruby
20160 citations
Semantic Scholar
XX testicular disorder of sex development with Down syndrome: a rare association in an Egyptian patient
I. Mazen, M. Mekkawy, A. Kamel, M. Thomas +1 more
20140 citations
Semantic Scholar
Hepatomegaly : A Major Clinical Sign in Some Metabolic Disorders
A. I. EL-KOTOURY, M. El Ruby, E. Fateen
20130 citations
Semantic Scholar

Frequent co-authors

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E. Ashaat×22
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E. Ashaat — researcher profile on SciRah
A. Kamel×11
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A. Kamel — researcher profile on SciRah
A. Fayez×9
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A. Fayez — researcher profile on SciRah
S. Ismail×8
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S. Ismail — researcher profile on SciRah

×6

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M. Aglan — researcher profile on SciRah

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A. Mohamed — researcher profile on SciRah

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M. Mekkawy — researcher profile on SciRah

Nora N. Esmaiel×5

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Nora N. Esmaiel — researcher profile on SciRah

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D. Hussen — researcher profile on SciRah

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S. Temtamy — researcher profile on SciRah

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N. Helmy — researcher profile on SciRah

Neveen A Ashaat×4

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Neveen A Ashaat — researcher profile on SciRah