Author

Heba Hosny

Observed name: H. Hosny

Institution: The National Institute of Neuromotor System

Observed institutions: Centogene (Germany), The National Institute of Neuromotor System

ORCID: 0000-0003-1447-6459

Observed ORCID: 0000-0003-1447-6459

OpenAlex ID: A5037753480

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation

2017 · M.S. Zaki, M.Y. Issa, et al. · Clinical Genetics · 48

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

2023 · Pilar Guatibonza Moreno, Luba M. Pardo, et al. · European Journal of Human Genetics · 24

Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

2019 · Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, et al. · Journal of Human Genetics · 18

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

2016 · Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, et al. · Metabolic Brain Disease · 13

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

2020 · Marcello Scala, Majid Mojarrad, et al. · Brain · 11

GGPS1 ‐associated muscular dystrophy with and without hearing loss

2022 · Rauan Kaiyrzhanov, Luke Perry, et al. · Annals of Clinical and Translational Neurology · 10

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

2021 · Shereen G. Ghosh, Martin W. Breuss, et al. · European Journal of Human Genetics · 8

Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype

2020 · Sara H. El-Dessouky, Heba Hosny, et al. · Egyptian Journal of Medical Human Genetics · 6

Unfolding the genetic map of monogenic liver diseases in Egypt

2025 · Hanaa El-Karaksy, Engy A. Mogahed, et al. · Human Genetics · 2

PINK1 ‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

2026 · Reza Maroofian, Ross Leng, et al. · Movement Disorders

Works count: 10

Citation count: 140

H-index: 7

I10-index: 6