Zuhair Rahbeeni

Zuhair Rahbeeni

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Zuhair Rahbeeni

Zuhair Rahbeeni

Publications by authors named "Zuhair Rahbeeni"

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
October 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Jun 23;104(6):1182-1201. Epub 2019 May 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562004PMC
June 2019

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.

Ophthalmic Genet 2019 Feb 29;40(1):77-79. Epub 2018 Nov 29.

a Vitreoretinal Division , King Khaled Eye Specialist Hospital , Riyadh , Kingdom of Saudi Arabia.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1551495DOI Listing
February 2019

Aortic calcification in Gaucher disease: a case report.

Appl Clin Genet 2018 17;11:107-110. Epub 2018 Oct 17.

Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,

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https://www.dovepress.com/aortic-calcification-in-gaucher-di
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http://dx.doi.org/10.2147/TACG.S180995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969PMC
October 2018

A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.

Eur J Med Genet 2018 Jun 8;61(6):307-311. Epub 2018 Jan 8.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.007DOI Listing
June 2018

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

Am J Med Genet A 2018 03 13;176(3):687-691. Epub 2018 Jan 13.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38599DOI Listing
March 2018

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program.

Saudi J Ophthalmol 2017 Oct-Dec;31(4):247-249. Epub 2017 Aug 10.

Glaucoma Research Chair, Dept. of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.sjopt.2017.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717496PMC
August 2017

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Intractable Rare Dis Res 2016 Aug;5(3):227-30

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.5582/irdr.2016.01018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995419PMC
August 2016

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

J Pediatr Gastroenterol Nutr 2015 Mar;60(3):352-6

*Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre †Saudi Human Genome Program, King Abdulaziz City for Science and Technology ‡Department of Medical Genetics, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1097/MPG.0000000000000627DOI Listing
March 2015

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Am J Hum Genet 2014 Jun 15;94(6):898-904. Epub 2014 May 15.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121479PMC
June 2014

Oral-facial-digital syndrome type 1: unique radiological findings.

Clin Dysmorphol 2012 Apr;21(2):77-9

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e32834e9261DOI Listing
April 2012

Study of consanguineous populations can improve the annotation of SNP databases.

Eur J Med Genet 2011 Mar-Apr;54(2):118-20. Epub 2010 Oct 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.009DOI Listing
August 2011

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

J Inherit Metab Dis 2010 Dec 22;33 Suppl 3:S263-7. Epub 2010 Jun 22.

Department of Medical Genetics, MBC-75, King Faisal Specialist Hospital & Research Centre, PO BOX 3345, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10545-010-9143-1DOI Listing
December 2010

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.

Am J Med Genet A 2010 Jul;152A(7):1841-3

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.33123DOI Listing
July 2010

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Eur J Pediatr 2009 Dec 4;168(12):1467-71. Epub 2009 Mar 4.

Department of Pathology, Molecular Genetics Laboratory, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00431-009-0953-9DOI Listing
December 2009

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.

Biomed Chromatogr 2008 Nov;22(11):1181-5

National Laboratory for Newborn Screening, Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://doi.wiley.com/10.1002/bmc.1049
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http://dx.doi.org/10.1002/bmc.1049DOI Listing
November 2008

Localized acalvaria with craniosynostosis.

Clin Dysmorphol 2008 Jul;17(3):165-8

Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4a10eDOI Listing
July 2008

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

J Neurol Sci 2008 Jan 7;264(1-2):187-94. Epub 2007 Sep 7.

Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jns.2007.08.003DOI Listing
January 2008

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.

Clin Chim Acta 2006 Mar 21;365(1-2):243-8. Epub 2005 Oct 21.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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https://linkinghub.elsevier.com/retrieve/pii/S00098981050054
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http://dx.doi.org/10.1016/j.cca.2005.09.001DOI Listing
March 2006

Rapid determination of orotic acid in urine by liquid chromatography-electrospray tandem mass spectrometry.

Clin Chem 2003 Mar;49(3):499-501

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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March 2003