Author

Hadeel Abdollah Alrukban

Observed names: Hadeel A. AlRukban, Hadeel Abdollah E. Alrukban, Hadeel AlRukban, Hadeel Alrukban, Hadeel Al‐Rukban

Institution: Riyadh Armed Forces Hospital

Observed institutions: Princess Nourah bint Abdulrahman University, Mount Sinai Hospital, Riyadh Armed Forces Hospital, King Saud bin Abdulaziz University for Health Sciences, University of Toronto, Saudi Aramco Medical Services Organization, Hospital for Sick Children, King Abdulaziz Medical City

ORCID: 0000-0003-2622-1744

Observed ORCID: 0000-0003-2622-1744

OpenAlex ID: A5064414614

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

2013 · Ranad Shaheen, Shinu Ansari, et al. · Journal of Medical Genetics · 50

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

2018 · Hadeel Alrukban, David Chitayat · The Application of Clinical Genetics · 14

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

2026 · Francesca Magrinelli, Christelle Tesson, et al. · Nature Communications · 13

A founder DBR1 variant causes a lethal form of congenital ichthyosis

2023 · Hanan E. Shamseldin, Mukunth Sadagopan, et al. · Human Genetics · 11

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

2024 · Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, et al. · Human Genomics · 8

Prenatal presentation of hereditary hemorrhagic telangiectasia – a report of two sibs

2016 · Maha Saleh, Ioana Miron, et al. · Prenatal Diagnosis · 5

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

2024 · Ahmed Sarar Mohamed, Talal AlAnzi, et al. · JIMD Reports · 4

Recessive variants in ESCRT-II component VPS25 alter vesicular transport and small extracellular vesicle processing in lethal neonatal encephalopathy

2026 · Ioannis Isaioglou, Lama AlAbdi, et al. · Genome Medicine

Additional file 2 of Recessive variants in ESCRT-II component VPS25 alter vesicular transport and small extracellular vesicle processing in lethal neonatal encephalopathy

2026 · Ioannis Isaioglou, Lama AlAbdi, et al. · Figshare

Additional file 3 of Recessive variants in ESCRT-II component VPS25 alter vesicular transport and small extracellular vesicle processing in lethal neonatal encephalopathy

2026 · Ioannis Isaioglou, Lama AlAbdi, et al. · Figshare

Additional file 1 of Recessive variants in ESCRT-II component VPS25 alter vesicular transport and small extracellular vesicle processing in lethal neonatal encephalopathy

2026 · Ioannis Isaioglou, Lama AlAbdi, et al. · Figshare

Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

2024 · Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, et al. · Human Genomics

Prenatal Diagnosis of c.437–1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case

2024 · Talal AlAnzi, Sarar Mohammed, et al. · Cureus

Works count: 13

Citation count: 105

H-index: 5

I10-index: 4