Publications by authors named "Khalid Al-Thihli"

36Publications

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Am J Hum Genet 2020 12 25;107(6):1178-1185. Epub 2020 Nov 25.

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

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December 2020

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

J Cent Nerv Syst Dis 2020 29;12:1179573520909377. Epub 2020 Feb 29.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

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February 2020

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Clin Genet 2020 04 6;97(4):666-667. Epub 2019 Dec 6.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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April 2020

Nonketotic Hyperglycinemia: Two Case Reports and Review.

Neurodiagn J 2019 21;59(3):142-151. Epub 2019 Aug 21.

Department of Clinical GeneticsSultan Qaboos University Hospital , Muscat , Sultanate of Oman.

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February 2020

Phenotypic spectrum of ALPK3-related cardiomyopathy.

Am J Med Genet A 2019 07 10;179(7):1235-1240. Epub 2019 May 10.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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July 2019

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Clin Genet 2018 12 12;94(6):495-501. Epub 2018 Sep 12.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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December 2018

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Sultan Qaboos Univ Med J 2017 Aug 10;17(3):e355-e357. Epub 2017 Oct 10.

Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

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August 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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August 2017

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Ophthalmic Genet 2017 12 16;38(6):544-548. Epub 2017 May 16.

b Department of Genetics , Sultan Qaboos University Hospital , Muscat , Oman.

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December 2017

A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.

Metab Brain Dis 2017 08 7;32(4):1119-1121. Epub 2017 Apr 7.

Child Health Department, Sultan Qaboos University Hospital, PO Box 38, Al-Khoud 123, Muscat, Oman.

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August 2017

Guidelines for acute management of hyperammonemia in the Middle East region.

Ther Clin Risk Manag 2016 31;12:479-87. Epub 2016 Mar 31.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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April 2016

Rigid Spine Syndrome among Children in Oman.

Sultan Qaboos Univ Med J 2015 Aug 24;15(3):e364-9. Epub 2015 Aug 24.

Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

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August 2015

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

J Autism Dev Disord 2015 Aug;45(8):2323-8

Genetics Department, College of Medicine, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, PO Box 35, 123, Muscat, Sultanate of Oman.

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August 2015

Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.

Hum Hered 2014 29;77(1-4):183-8. Epub 2014 Jul 29.

Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.

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March 2015

Megalencephalic leukoencephalopathy with subcortical cysts.

Sultan Qaboos Univ Med J 2013 Nov 8;13(4):585-6. Epub 2013 Nov 8.

Departments of Child Health, Sultan Qaboos University, Muscat, Oman.

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November 2013

An update on ocular involvement in mucopolysaccharidoses.

Curr Opin Ophthalmol 2013 Sep;24(5):379-88

Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.

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September 2013

Drug treatment of inborn errors of metabolism: a systematic review.

Arch Dis Child 2013 Jun 26;98(6):454-61. Epub 2013 Mar 26.

Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, PO Box 22490, Riyadh 11426, Saudi Arabia.

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June 2013

Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children.

J Child Neurol 2014 Nov 12;29(11):1436-40. Epub 2013 Mar 12.

Department of Radiology, College of Medicine and Health sciences, Sultan Qaboos University Hospital, Muscat, Oman.

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November 2014

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.

J Inherit Metab Dis 2014 Mar 8;37(2):207-13. Epub 2013 Jan 8.

Division of Biochemical Diseases, BC Children's Hospital, 4500 Oak St, Vancouver, BC, Canada.

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March 2014

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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July 2012

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Am J Med Genet A 2011 Aug 7;155A(8):1987-90. Epub 2011 Jul 7.

Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.

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August 2011

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Am J Med Genet A 2008 Sep;146A(18):2412-6

F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, McGill University Health Centre/Montreal Children's Hospital, Montreal, Quebec, Canada.

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September 2008