Publications by authors named "Saad Alshahwan"

17Publications

Problem-solving in clinical practice: breathing difficulty and muscle weakness following allogeneic haematopoietic stem cell transplantation.

Authors:
Bashaer Albulushi Farah Thabet Saad Alshahwan Yasser Elborai Nawaf Alkhayat Mohamed Alshahrani Brahim Tabarki

Arch Dis Child Educ Pract Ed 2020 Sep 8. Epub 2020 Sep 8.

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

View Article and Find Full Text PDF
September 2020

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Authors:
Ahmed BoAli Kalthoum Tlili-Graiess Amal AlHashem Saad AlShahwan Giulio Zuccoli Brahim Tabarki

Pediatr Neurol 2019 02 25;91:57-61. Epub 2018 Sep 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

View Article and Find Full Text PDF
February 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.

View Article and Find Full Text PDF
March 2019

Genomic and phenotypic delineation of congenital microcephaly.

Authors:
Ranad Shaheen Sateesh Maddirevula Nour Ewida Saud Alsahli Ghada M H Abdel-Salam Maha S Zaki Saeed Al Tala Amal Alhashem Ameen Softah Mohammed Al-Owain Anas M Alazami Basma Abadel Nisha Patel Tarfa Al-Sheddi Rana Alomar Eman Alobeid Niema Ibrahim Mais Hashem Firdous Abdulwahab Muddathir Hamad Brahim Tabarki Ali H Alwadei Fahad Alhazzani Fahad A Bashiri Amal Kentab Serdar Şahintürk Elliott Sherr Brieana Fregeau Samira Sogati Saad Ali M Alshahwan Salwa Alkhalifi Zainab Alhumaidi Samia Temtamy Mona Aglan Ghada Otaify Katta M Girisha Maha Tulbah Mohammed Zain Seidahmed Mustafa A Salih Mohamed Abouelhoda Afaque A Momin Muna Al Saffar Jennifer N Partlow Stefan T Arold Eissa Faqeih Christopher Walsh Fowzan S Alkuraya

Genet Med 2019 03 14;21(3):545-552. Epub 2018 Sep 14.

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

View Article and Find Full Text PDF
March 2019

Congenital disorders of glycosylation: The Saudi experience.

Authors:
Sarah Alsubhi Amal Alhashem Eissa Faqeih Majid Alfadhel Abdullah Alfaifi Waleed Altuwaijri Saud Alsahli Hesham Aldhalaan Fowzan S Alkuraya Khalid Hundallah Adel Mahmoud Ali Alasmari Fuad Al Mutairi Hanem Abduraouf Layan AlRasheed Saad Alshahwan Brahim Tabarki

Am J Med Genet A 2017 Oct 25;173(10):2614-2621. Epub 2017 Jul 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
August 2017

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

Authors:
Ahmed Alfares Majid Alfadhel Tariq Wani Saud Alsahli Iram Alluhaydan Fuad Al Mutairi Ali Alothaim Mohammed Albalwi Lamia Al Subaie Saeed Alturki Waleed Al-Twaijri Muhammad Alrifai Ahmed Al-Rumayya Seham Alameer Eissa Faqeeh Ali Alasmari Abdulaziz Alsamman Soha Tashkandia Abdulaziz Alghamdi Amal Alhashem Brahim Tabarki Saad AlShahwan Khalid Hundallah Sami Wali Homoud Al-Hebbi Amir Babiker Sarar Mohamed Wafaa Eyaid Abdul Ali Peer Zada

Mol Genet Metab 2017 06 7;121(2):91-95. Epub 2017 Apr 7.

Molecular Genetics Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
June 2017

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Authors:
Alaa Eskandrani Amal AlHashem El-Sayed Ali Saad AlShahwan Kalthoum Tlili Khaled Hundallah Brahim Tabarki

Pediatr Neurol 2017 Jun 5;71:24-28. Epub 2017 Apr 5.

Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

View Article and Find Full Text PDF
June 2017

Sepiapterin reductase deficiency: Report of 5 new cases.

Authors:
Sarah AlSubhi Saad AlShahwan Mohamed AlMuhaizae Hamed AlZaidan Brahim Tabarki

Eur J Paediatr Neurol 2017 May 29;21(3):583-586. Epub 2017 Jan 29.

Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

View Article and Find Full Text PDF
May 2017

Characterizing the morbid genome of ciliopathies.

Authors:
Ranad Shaheen Katarzyna Szymanska Basudha Basu Nisha Patel Nour Ewida Eissa Faqeih Amal Al Hashem Nada Derar Hadeel Alsharif Mohammed A Aldahmesh Anas M Alazami Mais Hashem Niema Ibrahim Firdous M Abdulwahab Rawda Sonbul Hisham Alkuraya Maha Alnemer Saeed Al Tala Muneera Al-Husain Heba Morsy Mohammed Zain Seidahmed Neama Meriki Mohammed Al-Owain Saad AlShahwan Brahim Tabarki Mustafa A Salih Tariq Faquih Mohamed El-Kalioby Marius Ueffing Karsten Boldt Clare V Logan David A Parry Nada Al Tassan Dorota Monies Andre Megarbane Mohamed Abouelhoda Anason Halees Colin A Johnson Fowzan S Alkuraya

Genome Biol 2016 11 28;17(1):242. Epub 2016 Nov 28.

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

View Article and Find Full Text PDF
November 2016

Acute psychosis in children: do not miss immune-mediated causes.

Authors:
Afnan S AlHakeem Mohamed S Mekki Saad M AlShahwan Brahim M Tabarki

Neurosciences (Riyadh) 2016 Jul;21(3):252-5

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

View Article and Find Full Text PDF
July 2016

Further Delineation of the ALG9-CDG Phenotype.

Authors:
Sarah AlSubhi Amal AlHashem Anas AlAzami Kalthoum Tlili Saad AlShahwan Dirk Lefeber Fowzan S Alkuraya Brahim Tabarki

JIMD Rep 2016 10;27:107-12. Epub 2015 Oct 10.

Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
May 2016

Severe CNS involvement in WWOX mutations: Description of five new cases.

Authors:
Brahim Tabarki Amal AlHashem Saad AlShahwan Fowzan S Alkuraya Satyanarayana Gedela Giulio Zuccoli

Am J Med Genet A 2015 Dec 8;167A(12):3209-13. Epub 2015 Sep 8.

Pediatric Neuroradiology, Children Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania.

View Article and Find Full Text PDF
December 2015

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.

Authors:
Brahim Tabarki Majid Alfadhel Saad AlShahwan Khaled Hundallah Shatha AlShafi Amel AlHashem

Eur J Paediatr Neurol 2015 Sep 12;19(5):547-52. Epub 2015 Jun 12.

Divisions of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
September 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Authors:
Anas M Alazami Nisha Patel Hanan E Shamseldin Shamsa Anazi Mohammed S Al-Dosari Fatema Alzahrani Hadia Hijazi Muneera Alshammari Mohammed A Aldahmesh Mustafa A Salih Eissa Faqeih Amal Alhashem Fahad A Bashiri Mohammed Al-Owain Amal Y Kentab Sameera Sogaty Saeed Al Tala Mohamad-Hani Temsah Maha Tulbah Rasha F Aljelaify Saad A Alshahwan Mohammed Zain Seidahmed Adnan A Alhadid Hesham Aldhalaan Fatema AlQallaf Wesam Kurdi Majid Alfadhel Zainab Babay Mohammad Alsogheer Namik Kaya Zuhair N Al-Hassnan Ghada M H Abdel-Salam Nouriya Al-Sannaa Fuad Al Mutairi Heba Y El Khashab Saeed Bohlega Xiaofei Jia Henry C Nguyen Rakad Hammami Nouran Adly Jawahir Y Mohamed Firdous Abdulwahab Niema Ibrahim Ewa A Naim Banan Al-Younes Brian F Meyer Mais Hashem Ranad Shaheen Yong Xiong Mohamed Abouelhoda Abdulrahman A Aldeeri Dorota M Monies Fowzan S Alkuraya

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

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; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

View Article and Find Full Text PDF
January 2015

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Authors:
Valeria Massa Erika Fernandez-Vizarra Saad Alshahwan Eman Bakhsh Paola Goffrini Ileana Ferrero Paolo Mereghetti Pio D'Adamo Paolo Gasparini Massimo Zeviani

Am J Hum Genet 2008 Jun 22;82(6):1281-9. Epub 2008 May 22.

Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milano, Italy.

View Article and Find Full Text PDF
June 2008

Cephalosporin-induced nonconvulsive status epilepticus in a uremic child.

Authors:
Aziza K Chedrawi Salam I Gharaybeh Saed A Al-Ghwery Sulaiman A Al-Mohaimeed Saad A Alshahwan

Pediatr Neurol 2004 Feb;30(2):135-9

Division of Pediatric Neurology, Department of Pediatrics, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
February 2004