Zuhair Rahbeeni

Zuhair Rahbeeni

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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

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Authors:
Viorica Chelban Maysoon Alsagob Katja Kloth Adela Chirita-Emandi Jana Vandrovcova Reza Maroofian Indran Davagnanam Somayeh Bakhtiari Moeenaldeen D AlSayed Zuhair Rahbeeni Hamad AlZaidan Nancy T Malintan Jessika Johannsen Stephanie Efthymiou Ehsan Ghayoor Karimiani Kshitij Mankad Saif A Al-Shahrani Mehran Beiraghi Toosi Mai AlShammari Stanislav Groppa Nourelhoda A Haridy Laila AlQuait Alya Qari Rozeena Huma Mustafa A Salih Rawan Almass Faten B Almutairi Muddathir H Hamad Ibrahim A Alorainy Khushnooda Ramzan Faiqa Imtiaz Maria Puiu Michael C Kruer Tatjana Bierhals Nicholas W Wood Dilek Colak Henry Houlden Namik Kaya

Eur J Neurol 2019 Sep 11. Epub 2019 Sep 11.

Department of Genetics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, KSA.

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http://dx.doi.org/10.1111/ene.14082DOI Listing
September 2019

Optic neuropathy in classical methylmalonic acidemia.

Authors:
Mohammed AlOwain Ola Ali Khalifa Zahra Al Sahlawi Maged H Hussein Raashda A Sulaiman Moeen Al-Sayed Zuhair Rahbeeni Zuhair Al-Hassnan Hamad Al-Zaidan Hachemi Nezzar Iftetah Al Homoud Abdelmoneim Eldali Brian Altonen Bedour S Handoom Joyce N Mbekeani

Ophthalmic Genet 2019 Aug 4;40(4):313-322. Epub 2019 Jul 4.

Department of Surgery (Ophthalmology), Jacobi Medical Centre , Bronx , NY , USA.

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http://dx.doi.org/10.1080/13816810.2019.1634740DOI Listing
August 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

Autozygome and high throughput confirmation of disease genes candidacy.

Authors:
Sateesh Maddirevula Fatema Alzahrani Mohammed Al-Owain Mohammad A Al Muhaizea Husam R Kayyali Amal AlHashem Zuhair Rahbeeni Maha Al-Otaibi Hamad I Alzaidan Ameera Balobaid Heba Y El Khashab Dalal K Bubshait Maha Faden Suad Al Yamani Omar Dabbagh Mariam Al-Mureikhi Abdulla Al Jasser Hessa S Alsaif Iram Alluhaydan Mohammed Zain Seidahmed Bashair Hamza Alabbasi Ibrahim Almogarri Wesam Kurdi Hana Akleh Alya Qari Saeed M Al Tala Suzan Alhomaidi Amal Y Kentab Mustafa A Salih Aziza Chedrawi Seham Alameer Brahim Tabarki Hanan E Shamseldin Nisha Patel Niema Ibrahim Firdous Abdulwahab Menasria Samira Ewa Goljan Mohamed Abouelhoda Brian F Meyer Mais Hashem Ranad Shaheen Saad AlShahwan Majid Alfadhel Tawfeg Ben-Omran Mohammad M Al-Qattan Dorota Monies Fowzan S Alkuraya

Genet Med 2019 03 21;21(3):736-742. Epub 2018 Sep 21.

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

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http://www.nature.com/articles/s41436-018-0138-x
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http://dx.doi.org/10.1038/s41436-018-0138-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752307PMC
March 2019

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

Authors:
Alanoud Aldrees Ehab Abdelkader Hussain Al-Habboubi Huda Alrwebah Zuhair Rahbeeni Patrik Schatz

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

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Authors:
Jumanah Alshenaifi Nour Ewida Shams Anazi Hanan E Shamseldin Nisha Patel Sateesh Maddirevula Tarfa Al-Sheddi Rana Alomar Eman Alobeid Niema Ibrahim Mais Hashem Firdous Abdulwahab Minnie Jacob Amal Alhashem Hamad I Alzaidan Mohammed Z Seidahmed Nadia Alhashemi Rifaat Rawashdeh Wafaa Eyaid Zuhair N Al-Hassnan Zuhair Rahbeeni Abdulrahman Alswaid Adnan Hadid Alya Qari Dia A Mohammed Heba Y El Khashab Majid Alfadhel Mohammad Abanemai Rawda Sunbul Saeed Al Tala Salwa Alkhalifi Turki Alkharfi Mohamed Abouelhoda Dorota Monies Nada Al Tassan Saud H AlDubayan Wesam Kurdi Mohammed Al-Owain Majed J Dasouki Amal Y Kentab Suha Atyani Nawal Makhseed Eissa Faqeih Ranad Shaheen Fowzan S Alkuraya

Clin Genet 2019 Feb 18;95(2):310-319. Epub 2018 Dec 18.

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

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http://doi.wiley.com/10.1111/cge.13481
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http://dx.doi.org/10.1111/cge.13481DOI Listing
February 2019

Aortic calcification in Gaucher disease: a case report.

Authors:
Saud Alsahli Dalal K Bubshait Zuhair A Rahbeeni Majid Alfadhel

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.

Authors:
Ruqaiah AlTassan Dalal Bubshait Faiqa Imtiaz Zuhair Rahbeeni

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

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Authors:
Zuhair N Al-Hassnan Ola A Khalifa Dalal K Bubshait Sahar Tulbah Maarab Alkorashy Hamad Alzaidan Mohammed Alowain Zuhair Rahbeeni Moeen Al-Sayed

Mol Genet Metab Rep 2018 Jun 7;15:50-54. Epub 2018 Feb 7.

Department of Medical Genetics, KFSH&RC, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047460PMC
June 2018

Molecular autopsy in maternal-fetal medicine.

Authors:
Hanan E Shamseldin Wesam Kurdi Fatima Almusafri Maha Alnemer Alya Alkaff Zeneb Babay Amal Alhashem Maha Tulbah Nada Alsahan Rubina Khan Bahauddin Sallout Elham Al Mardawi Mohamed Zain Seidahmed Niema Meriki Yasser Alsaber Alya Qari Ola Khalifa Wafaa Eyaid Zuhair Rahbeeni Ahmed Kurdi Mais Hashem Tarfa Alshidi Eman Al-Obeid Firdous Abdulwahab Niema Ibrahim Nour Ewida Karen El-Akouri Mariam Al Mulla Tawfeg Ben-Omran Matthias Pergande Sebahattin Cirak Saeed Al Tala Ranad Shaheen Eissa Faqeih Fowzan S Alkuraya

Genet Med 2018 04 20;20(4):420-427. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/gim.2017.111DOI Listing
April 2018

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

Authors:
Nasir A Bakshi Talal Al-Anzi Said Y Mohamed Zuhair Rahbeeni Moeen AlSayed Mohammed Al-Owain Raashda A Sulaiman

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

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Authors:
Laila Alrakaf Mohammed A Al-Owain Maryam Busehail Maha A Alotaibi Dorota Monies Hesham M Aldhalaan Amal Alhashem Zuhair N Al-Hassnan Zuhair A Rahbeeni Fathiya Al Murshedi Nadia Al Ani Almundher Al-Maawali Niema A Ibrahim Firdous M Abdulwahab Maysoon Alsagob Mais O Hashem Wafaa Ramadan Mohamed Abouelhoda Brian F Meyer Namik Kaya Sateesh Maddirevula Fowzan S Alkuraya

Am J Med Genet A 2018 03 31;176(3):715-721. Epub 2018 Jan 31.

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

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http://doi.wiley.com/10.1002/ajmg.a.38615
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http://dx.doi.org/10.1002/ajmg.a.38615DOI Listing
March 2018

Molecular and clinical spectra of FBXL4 deficiency.

Authors:
Ayman W El-Hattab Hongzheng Dai Mohammed Almannai Julia Wang Eissa A Faqeih Ali Al Asmari Mohammed A M Saleh Mohammed A O Elamin Majid Alfadhel Fowzan S Alkuraya Mais Hashem Mazhor S Aldosary Rawan Almass Faten B Almutairi Maysoon Alsagob Mohammed Al-Owain Shirin Al-Sharfa Zuhair N Al-Hassnan Zuhair Rahbeeni Mohammed A Al-Muhaizea Nawal Makhseed Gretchen K Foskett David A Stevenson Natalia Gomez-Ospina Chung Lee Richard G Boles Samantha A Schrier Vergano Saskia B Wortmann Wolfgang Sperl Thomas Opladen Georg F Hoffmann Maja Hempel Holger Prokisch Bader Alhaddad Johannes A Mayr Wenyaw Chan Namik Kaya Lee-Jun C Wong

Hum Mutat 2017 12 6;38(12):1649-1659. Epub 2017 Oct 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://doi.wiley.com/10.1002/humu.23341
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http://dx.doi.org/10.1002/humu.23341DOI Listing
December 2017

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.

Authors:
Rizwan Malik Rajiv Khandekar Trishal Boodhna Zuhair Rahbeeni Abdul Elah Al Towerki Deepak P Edward Khaled Abu-Amero

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

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

Authors:
Majid Alfadhel Ali Al Othaim Saif Al Saif Fuad Al Mutairi Moeenaldeen Alsayed Zuhair Rahbeeni Hamad Alzaidan Mohammed Alowain Zuhair Al-Hassnan Mohamad Saeedi Saeed Aljohery Ali Alasmari Eissa Faqeih Mansour Alwakeel Maher AlMashary Sulaiman Almohameed Mohammed Alzahrani Abeer Migdad Osama Y Al-Dirbashi Mohamed Rashed Mohamed Alamoudi Minnie Jacob Lujane Alahaidib Fahd El-Badaoui Amal Saadallah Ayman Alsulaiman Wafaa Eyaid Ali Al-Odaib

J Paediatr Child Health 2017 Jun 24;53(6):585-591. Epub 2017 Mar 24.

Research Center, Ministry of Health, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/jpc.13469DOI Listing
June 2017

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Authors:
Raashda Ainuddin Sulaiman Marwan Yassin Shaheen Hamad Al-Zaidan Zuhair Al-Hassnan Moeenaldeen Al-Sayed Zuhair Rahbeeni Nasir Ahmed Bakshi Namik Kaya Mazhor Aldosary Mohammed Al-Owain

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 the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Authors:
Anas M Alazami Sarah M Al-Qattan Eissa Faqeih Amal Alhashem Muneera Alshammari Fatema Alzahrani Mohammed S Al-Dosari Nisha Patel Afaf Alsagheir Bassam Binabbas Hamad Alzaidan Abdulmonem Alsiddiky Nasser Alharbi Majid Alfadhel Amal Kentab Riza M Daza Martin Kircher Jay Shendure Mais Hashem Saif Alshahrani Zuhair Rahbeeni Ola Khalifa Ranad Shaheen Fowzan S Alkuraya

Hum Genet 2016 May 29;135(5):525-540. Epub 2016 Mar 29.

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

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http://dx.doi.org/10.1007/s00439-016-1660-zDOI Listing
May 2016

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Authors:
Zuhair N Al-Hassnan Zarghuna Ma Shinwari Salma M Wakil Sahar Tulbah Shamayel Mohammed Zuhair Rahbeeni Mohammed Alghamdi Monther Rababh Dilek Colak Namik Kaya Majid Al-Fayyadh Jehad Alburaiki

BMC Med Genet 2016 Jan 14;17. Epub 2016 Jan 14.

Heart Center, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12881-016-0267-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714499PMC
January 2016

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Authors:
Faiqa Imtiaz Bashayer M Al-Mubarak Abeer Al-Mostafa Mohamed Al-Hamed Rabab Allam Zuhair Al-Hassnan Mohammed Al-Owain Hamad Al-Zaidan Zuhair Rahbeeni Alya Qari Eissa Ali Faqeih Ali Alasmari Fuad Al-Mutairi Majid Alfadhel Wafaa M Eyaid Mohamed S Rashed Moeenaldeen Al-Sayed

JIMD Rep 2016 29;29:39-46. Epub 2015 Nov 29.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059185PMC
http://dx.doi.org/10.1007/8904_2014_297DOI Listing
November 2015

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Authors:
Hanan E Shamseldin Maha Tulbah Wesam Kurdi Maha Nemer Nada Alsahan Elham Al Mardawi Ola Khalifa Amal Hashem Ahmed Kurdi Zainab Babay Dalal K Bubshait Niema Ibrahim Firdous Abdulwahab Zuhair Rahbeeni Mais Hashem Fowzan S Alkuraya

Genome Biol 2015 Jun 3;16:116. Epub 2015 Jun 3.

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

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http://dx.doi.org/10.1186/s13059-015-0681-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491988PMC
June 2015

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

Authors:
Dorota M Monies Zuhair Rahbeeni Mohamed Abouelhoda Ewa A Naim Banan Al-Younes Brian F Meyer Ali Al-Mehaidib

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.

Authors:
Ranad Shaheen Zuhair Rahbeeni Amal Alhashem Eissa Faqeih Qi Zhao Yong Xiong Agaadir Almoisheer Sarah M Al-Qattan Halima A Almadani Noufa Al-Onazi Badi S Al-Baqawi Mohammad Ali Saleh Fowzan S Alkuraya

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

Clinical and biochemical features associated with BCS1L mutation.

Authors:
Mohammed Al-Owain Dilek Colak Albandary Albakheet Banan Al-Younes Zainab Al-Humaidi Moeen Al-Sayed Hindi Al-Hindi Abdulaziz Al-Sugair Ahmed Al-Muhaideb Zuhair Rahbeeni Abdullah Al-Sehli Fatima Al-Fadhli Pinar T Ozand Robert W Taylor Namik Kaya

J Inherit Metab Dis 2013 Sep 19;36(5):813-20. Epub 2012 Sep 19.

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

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http://link.springer.com/content/pdf/10.1007/s10545-012-9536
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http://link.springer.com/10.1007/s10545-012-9536-4
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http://dx.doi.org/10.1007/s10545-012-9536-4DOI Listing
September 2013

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Authors:
Leen Abu-Safieh May Alrashed Shamsa Anazi Hisham Alkuraya Arif O Khan Mohammed Al-Owain Jawahir Al-Zahrani Lama Al-Abdi Mais Hashem Salwa Al-Tarimi Mohammed-Adeeb Sebai Ahmed Shamia Mohamed D Ray-Zack Malik Nassan Zuhair N Al-Hassnan Zuhair Rahbeeni Saad Waheeb Abdullah Alkharashi Emad Abboud Selwa A F Al-Hazzaa Fowzan S Alkuraya

Genome Res 2013 Feb 26;23(2):236-47. Epub 2012 Oct 26.

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

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http://dx.doi.org/10.1101/gr.144105.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561865PMC
February 2013

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

Authors:
Ola Khalifa Zuhair Rahbeeni Nadia Alhashmi Khalid Almane

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

In search of triallelism in Bardet-Biedl syndrome.

Authors:
Leen Abu-Safieh Shamsa Al-Anazi Lama Al-Abdi Mais Hashem Hisham Alkuraya Mushari Alamr Mugtaba O Sirelkhatim Zuhair Al-Hassnan Basim Alkuraya Jawahir Y Mohamed Ahmad Al-Salem May Alrashed Eissa Faqeih Ameen Softah Amal Al-Hashem Sami Wali Zuhair Rahbeeni Moeen Alsayed Arif O Khan Lihadh Al-Gazali Peter E M Taschner Selwa Al-Hazzaa Fowzan S Alkuraya

Eur J Hum Genet 2012 Apr 22;20(4):420-7. Epub 2012 Feb 22.

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

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http://dx.doi.org/10.1038/ejhg.2011.205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306854PMC
April 2012

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Authors:
Faiqa Imtiaz Mohamed S Rashed Bashayer Al-Mubarak Rabab Allam Hanaa El-Karaksy Zuhair Al-Hassnan Mohammed Al-Owain Hamad Al-Zaidan Zuhair Rahbeeni Alya Qari Brian F Meyer Moeen Al-Sayed

Mol Genet Metab 2011 Dec 30;104(4):688-90. Epub 2011 Jun 30.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192110020
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http://dx.doi.org/10.1016/j.ymgme.2011.06.019DOI Listing
December 2011

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

Authors:
Hanan E Shamseldin Mohammed Al-Dosari Latifa Al-Jbali Zuhair Rahbeeni Alya Qari Mais Hashem Fowzan S Alkuraya

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.

Authors:
Zuhair N Al-Hassnan Faiqa Imtiaz Mohamed Al-Amoudi Zuhair Rahbeeni Moeen Al-Sayed Mohammed Al-Owain Hamad Al-Zaidan Ali Al-Odaib Mohamed S Rashed

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.

Authors:
Hanan E Shamseldin Zuhair Rahbeeni Fowzan S Alkuraya

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.

Authors:
Muhammad Faiyaz-Ul-Haque Mohammed Al-Owain Fouad Al-Dayel Zuhair Al-Hassnan Hamad Al-Zaidan Zuhair Rahbeeni Moeen Al-Sayed Ameera Balobaid Ahmad Cluntun Mohamed Toulimat Hala Abalkhail Iskra Peltekova Syed H E Zaidi

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

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Authors:
Mohammed A Aldahmesh Leen Abu Safieh Hisham Alkuraya Ali Al-Rajhi Hanan Shamseldin Mais Hashem Fatemah Alzahrani Arif O Khan Faisal Alqahtani Zuhair Rahbeeni Mohammed Alowain Hanif Khalak Salwa Al-Hazzaa Brian F Meyer Fowzan S Alkuraya

Mol Vis 2009 Nov 24;15:2464-9. Epub 2009 Nov 24.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786884PMC
November 2009

Identification of Gaucher disease mutations found in Saudi Arabia.

Authors:
Namik Kaya Fatima Al-Zahrani Ali Al-Odaib Zuhair Rahbeeni Zuhair Al-Hassnan Fahad Al-Sharif Pinar Ozand Moeenaldeen Al-Sayed

Blood Cells Mol Dis 2008 Sep-Oct;41(2):200-1. Epub 2008 Jun 30.

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http://dx.doi.org/10.1016/j.bcmd.2008.05.002DOI Listing
November 2008

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

Authors:
Osama Y Al-Dirbashi Mohamed S Rashed Minnie Jacob Lujane Y Al-Ahaideb Mohamed Al-Amoudi Zuhair Rahbeeni Moeen M Al-Sayed Zuhair Al-Hassnan Mohamed Al-Owain Hamad Al-Zeidan

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.

Authors:
Eissa Faqeih Zoltan Patay Zuhair Rahbeeni Jamila Murtada Essam Al Shail Judith G Hall

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.

Authors:
Zuhair N Al-Hassnan Mohamed S Rashed Osama Y Al-Dirbashi Zoltan Patay Zuhair Rahbeeni Khaled K Abu-Amero

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.

Authors:
Osama Y Al-Dirbashi Minnie Jacob Lujane Y Al-Ahaidib Khaled Al-Qahtani Zuhair Rahbeeni M Al-Owain Mohamed S Rashed

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

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Authors:
Mohamed S Rashed Amal A A Saadallah Zuhair Rahbeeni Wafaa Eyaid Mohamed Z Seidahmed Saad Al-Shahwan Mustafa A M Salih Mohammad E Osman Mohamed Al-Amoudi Lujane Al-Ahaidib Minnie Jacob

Biomed Chromatogr 2005 Apr;19(3):223-30

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

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http://dx.doi.org/10.1002/bmc.439DOI Listing
April 2005

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.

Authors:
Mohamed S Rashed Lujane Y Al-Ahaidib Osama Y Al-Dirbashi Mohammad Al Amoudi Moeen M A Al-Sayed Zuhair Rahbeeni Zuhair Al-Hassnan Abeer Al-Dbaas Mohamed Al-Owain Michelle Ni Luanaigh

Anal Biochem 2005 Apr;339(2):310-7

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

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http://linkinghub.elsevier.com/retrieve/pii/S000326970500044
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http://dx.doi.org/10.1016/j.ab.2005.01.014DOI Listing
April 2005

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

Authors:
Mohamed S Rashed Minnie Jacob Mohamed Al-Amoudi Zuhair Rahbeeni Moeen A D Al-Sayed Lujane Al-Ahaidib Amal A A Saadallah Sharon Legaspi

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