Zuhair Rahbeeni

ScholarGPS® ID: 92652095737867

Affiliation

King Faisal Specialist Hospital and Research Centre, Saudi Arabia

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

2,212

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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A founder variant expands the phenotype of WNT7B ‐related PDAC syndrome (journal article) AlAbdi, Lama \| Rahbeeni, Zuhair \| Maddirevula, Sateesh \| Helaby, Rana \| Abdulwahab, Firdous \| Khan, Arif O. \| Riley, Lisa G. \| Alhashem, Amal \| Chassaing, Nicolas \| Jamieson, Robyn V. \| Alkuraya, Fowzan S. Clinical Genetics, volume 106, issue 1, pages 66-71 (2024). 10.1111/cge.14512 Cite \| Source
Alstrom's Syndrome: An Experience of Tertiary Care Center (journal article) Gosadi, Ghadah \| Busehail, Maryam \| Rahbeeni, Zuhair Journal of Pediatric Genetics, volume 13, issue 02, pages 133-138 (2024). 10.1055/s-0041-1740369 Cite \| Source
A founder DBR1 variant causes a lethal form of congenital ichthyosis (journal article) Shamseldin, Hanan E. \| Sadagopan, Mukunth \| Martini, Javier \| Al-Ali, Ruslan \| Radefeldt, Mandy \| Ataei, Mojgan \| Lemke, Sabrina \| Rahbeeni, Zuhair \| Al Mutairi, Fuad \| Ababneh, Faroug \| ... \| Alkuraya, Fowzan S. Human Genetics, volume 142, issue 10, pages 1491-1498 (2023). 10.1007/s00439-023-02597-3 Cited by (1) \| Cite \| Source
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome (journal article) AlBakheet, Albandary \| AlQudairy, Hanan \| Alkhalifah, Joud \| Almoaily, Sheikhah \| Kaya, Namik \| Rahbeeni, Zuhair Frontiers in Genetics, volume 13 (2023). 10.3389/fgene.2022.1044936 Cited by (1) \| Cite \| Source
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience (journal article) Altassan, Ruqaiah \| Sulaiman, Raashda A. \| Alfalah, Abdullah \| Alwagiat, Waad \| Megdad, Eman \| Alqasabi, Dana \| Handoom, Bedour \| Almesned, Munirah \| Al-Amri, Hassan \| Alhassnan, Zuhair \| ... \| Albanyan, Esam European Journal of Medical Genetics, volume 65, issue 11, pages 104602- (2022). 10.1016/j.ejmg.2022.104602 Cited by (2) \| Cite \| Source
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome (journal article) Altassan, Ruqaiah \| Qudair, Ahmad \| Alokaili, Riyadh \| Alhasan, Khalid \| Faqeih, Eissa A. \| Alhashem, Amal \| Alowain, Muhammed \| Alsayed, Moeanaldeen \| Rahbeeni, Zuhair \| Albadi, Lama \| ... \| Pandey, Udai Bhan American Journal of Medical Genetics Part A, volume 188, issue 10, pages 2932-2940 (2022). 10.1002/ajmg.a.62894 Cite \| Source
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients (journal article) Alfadhel, Majid \| Abadel, Basma \| Almaghthawi, Hind \| Umair, Muhammad \| Rahbeeni, Zuhair \| Faqeih, Eissa \| Almannai, Mohammed \| Alasmari, Ali \| Saleh, Mohammed \| Eyaid, Wafaa \| ... \| Al Mutairi, Fuad Frontiers in Genetics, volume 13 (2022). 10.3389/fgene.2022.880464 Cited by (6) \| Cite \| Source
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study (journal article) Thorpe, Ryan K. \| Azaiez, Hela \| Wu, Peina \| Wang, Qiuju \| Xu, Lei \| Dai, Pu \| Yang, Tao \| Schaefer, G. Bradley \| Peters, B. Robert \| Chan, Kenny H. \| ... \| Smith, Richard J. H. Human Genetics, volume 141, issue 3-4, pages 853-863 (2022). 10.1007/s00439-021-02340-w Cited by (8) \| Cite \| Source
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial (journal article) Alfadhel, Majid \| Nashabat, Marwan \| Saleh, Mohammed \| Elamin, Mohammed \| Alfares, Ahmed \| Al Othaim, Ali \| Umair, Muhammad \| Ahmed, Hind \| Ababneh, Faroug \| Al Mutairi, Fuad \| ... \| Alasmari, Ali Orphanet Journal of Rare Diseases, volume 16, issue 1 (2021). 10.1186/s13023-021-02032-8 Cited by (11) \| Cite \| Source
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center (journal article) Holdar, Sinan \| Rahbeeni, Zuhair \| Ramzan, Khushnooda \| Imtiaz, Faiqa Journal of Pediatric Genetics, volume 10, issue 02, pages 105-110 (2021). 10.1055/s-0040-1714698 Cited by (1) \| Cite \| Source
A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis (journal article) AlFaris, Haya S \| Rahbeeni, Zuhair A \| Peake, Roy W A \| Almontashiri, Naif A M Clinical Chemistry, volume 67, issue 6, pages 912-914 (2021). 10.1093/clinchem/hvab016 Cite \| Source
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease (journal article) Dasouki, Majed \| Alaiya, Ayodeele \| ElAmin, Tanziel \| Shinwari, Zakia \| Monies, Dorota \| Abouelhoda, Mohamed \| Jabaan, Amjad \| Almourfi, Feras \| Rahbeeni, Zuhair \| Alsohaibani, Fahad \| ... \| Ahmed, Syed Osman iScience, volume 24, issue 3, pages 102214- (2021). 10.1016/j.isci.2021.102214 Cited by (7) \| Cite \| Source
Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report (journal article) Galal, Mohammed \| Mashali, Mohamed \| Zaheer, Ahmad \| Rahbeeni, Zuhair Journal of Biochemical and Clinical Genetics (2021). 10.24911/JBCGenetics/183-1613027889 Cited by (1) \| Cite \| Source
Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause (journal article) Abdullah, Sawsan \| Rahbeeni, Zuhair Journal of Biochemical and Clinical Genetics (2021). 10.24911/JBCGenetics/183-1614443590 Cite \| Source
Saudi patient with peroxisome biogenesis disorder with novel variant: a case report (journal article) AbuAlreesh, Ahmed \| Asiri, Rayah \| AbuAlreesh, Abeer \| Rahbeeni, Zuhair Journal of Biochemical and Clinical Genetics (2021). 10.24911/JBCGenetics/183-1612612814 Cite \| Source
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways (journal article) Aldosary, Mazhor \| Al-Bakheet, AlBandary \| Al-Dhalaan, Hesham \| Almass, Rawan \| Alsagob, Maysoon \| Al-Younes, Banan \| AlQuait, Laila \| Mustafa, Osama Mufid \| Bulbul, Mustafa \| Rahbeeni, Zuhair \| ... \| Colak, Dilek OMICS: A Journal of Integrative Biology, volume 24, issue 3, pages 160-171 (2020). 10.1089/omi.2019.0192 Cited by (16) \| Cite \| Source
A novel truncating variant in ring finger protein 113A ( RNF113A ) confirms the association of this gene with X‐linked trichothiodystrophy (journal article) Mendelsohn, Bryce A. \| Beleford, Daniah T. \| Abu‐El‐Haija, Aya \| Alsaleh, Norah S. \| Rahbeeni, Zuhair \| Martin, Pierre‐Marie \| Rego, Shannon \| Huang, Alyssa \| Capodanno, Gina \| Shieh, Joseph T. \| ... \| Slavotinek, Anne M. American Journal of Medical Genetics Part A, volume 182, issue 3, pages 513-520 (2020). 10.1002/ajmg.a.61450 Cited by (12) \| Cite \| Source
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 , DNASE1 , TRAP1 , and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy (journal article) Al-Qattan, Mohammad M. \| Rahbeeni, Zuhair A. \| Al-Hassnan, Zuhair N. \| Jarman, Abdulaziz \| Rafique, Atif \| Mahabbat, Nehal \| Alsufayan, Faris A. S. Case Reports in Genetics, volume 2020 (2020). 10.1155/2020/6143050 Cited by (2) \| Cite \| Source
Optic neuropathy in classical methylmalonic acidemia (journal article) AlOwain, Mohammed \| Khalifa, Ola Ali \| Al Sahlawi, Zahra \| Hussein, Maged H \| Sulaiman, Raashda A \| Al-Sayed, Moeen \| Rahbeeni, Zuhair \| Al-Hassnan, Zuhair \| Al-Zaidan, Hamad \| Nezzar, Hachemi \| ... \| Mbekeani, Joyce N Ophthalmic Genetics, volume 40, issue 4, pages 313-322 (2019). 10.1080/13816810.2019.1634740 Cited by (3) \| Cite \| Source
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene (journal article) Aldrees, Alanoud \| Abdelkader, Ehab \| Al-Habboubi, Hussain \| Alrwebah, Huda \| Rahbeeni, Zuhair \| Schatz, Patrik Ophthalmic Genetics, volume 40, issue 1, pages 77-79 (2019). 10.1080/13816810.2018.1551495 Cited by (9) \| Cite \| Source