Publications by authors named "Nada Alsahan"

11Publications

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Genes (Basel) 2020 Aug 20;11(9). Epub 2020 Aug 20.

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

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http://dx.doi.org/10.3390/genes11090967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565137PMC
August 2020

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

J Nephrol 2020 Jul 8. Epub 2020 Jul 8.

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

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http://dx.doi.org/10.1007/s40620-020-00795-0DOI Listing
July 2020

Confirming TBC1D32-related ciliopathy in humans.

Am J Med Genet A 2020 08 23;182(8):1985-1987. Epub 2020 Jun 23.

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.61717DOI Listing
August 2020

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
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 06 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

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Pediatr Nephrol 2019 09 11;34(9):1615-1623. Epub 2019 May 11.

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

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http://dx.doi.org/10.1007/s00467-019-04267-xDOI Listing
September 2019

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Clin Kidney J 2016 Dec 1;9(6):807-810. Epub 2016 Jul 1.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle, UK.

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http://dx.doi.org/10.1093/ckj/sfw057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162405PMC
December 2016

Identification of a novel MKS locus defined by TMEM107 mutation.

Hum Mol Genet 2015 Sep 29;24(18):5211-8. Epub 2015 Jun 29.

Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddv242DOI Listing
September 2015