Brian F Meyer

Brian F Meyer

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Brian F Meyer

Brian F Meyer

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Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.

Bone 2019 Aug 15;125:186-193. Epub 2019 May 15.

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

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https://linkinghub.elsevier.com/retrieve/pii/S87563282193019
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http://dx.doi.org/10.1016/j.bone.2019.05.017DOI Listing
August 2019

A novel mutation in a family with expanded syndrome of piebaldism.

JAAD Case Rep 2019 Jul 13;5(7):627-631. Epub 2019 Jul 13.

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

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http://dx.doi.org/10.1016/j.jdcr.2019.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630042PMC
July 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 Malak Althagafi 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

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Parkinsonism Relat Disord 2019 Feb 28. Epub 2019 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

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http://dx.doi.org/10.1016/j.parkreldis.2019.02.039DOI Listing
February 2019

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Genet Med 2019 01 11;21(1):185-188. Epub 2018 Jun 11.

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

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http://dx.doi.org/10.1038/s41436-018-0014-8DOI Listing
January 2019

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Acta Myol 2018 Sep 1;37(3):221-226. Epub 2018 Sep 1.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390114PMC
September 2018

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

BMC Med Genet 2018 07 11;19(1):115. Epub 2018 Jul 11.

Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12881-018-0629-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042323PMC
July 2018

Replication of Type 2 diabetes-associated variants in a Saudi Arabian population.

Physiol Genomics 2018 04 16;50(4):296-297. Epub 2018 Feb 16.

Department of Clinical Epidemiology, Leiden University Medical Center , Leiden , the Netherlands.

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http://dx.doi.org/10.1152/physiolgenomics.00100.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966803PMC
April 2018

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Hum Genomics 2017 12 8;11(1):33. Epub 2017 Dec 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s40246-017-0130-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723066PMC
December 2017

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Hum Genomics 2017 Nov 14;11(1):28. Epub 2017 Nov 14.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s40246-017-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686820PMC
November 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

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

Clin Endocrinol (Oxf) 2017 Jul 11;87(1):103-112. Epub 2017 May 11.

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

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http://dx.doi.org/10.1111/cen.13347DOI Listing
July 2017

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.

J Neurol Sci 2016 Aug 1;367:239-43. Epub 2016 Jun 1.

Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.05.061DOI Listing
August 2016

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Int J Dermatol 2016 Jun 7;55(6):673-9. Epub 2016 Apr 7.

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

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http://dx.doi.org/10.1111/ijd.13279DOI Listing
June 2016

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

Atherosclerosis 2016 Feb 22;245:62-70. Epub 2015 Nov 22.

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

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.11.019DOI Listing
February 2016

IL-12 immunotherapy of Braf(V600E)-induced papillary thyroid cancer in a mouse model.

Lab Invest 2016 Jan 26;96(1):89-97. Epub 2015 Oct 26.

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

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http://dx.doi.org/10.1038/labinvest.2015.126DOI Listing
January 2016

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Authors:
Timothy H T Cheng Deborah Thompson Jodie Painter Tracy O'Mara Maggie Gorman Lynn Martin Claire Palles Angela Jones Daniel D Buchanan Aung Ko Win John Hopper Mark Jenkins Noralane M Lindor Polly A Newcomb Steve Gallinger David Conti Fred Schumacher Graham Casey Graham G Giles Paul Pharoah Julian Peto Angela Cox Anthony Swerdlow Fergus Couch Julie M Cunningham Ellen L Goode Stacey J Winham Diether Lambrechts Peter Fasching Barbara Burwinkel Hermann Brenner Hiltrud Brauch Jenny Chang-Claude Helga B Salvesen Vessela Kristensen Hatef Darabi Jingmei Li Tao Liu Annika Lindblom Per Hall Magdalena Echeverry de Polanco Monica Sans Angel Carracedo Sergi Castellvi-Bel Augusto Rojas-Martinez Samuel Aguiar Jnr Manuel R Teixeira Alison M Dunning Joe Dennis Geoffrey Otton Tony Proietto Elizabeth Holliday John Attia Katie Ashton Rodney J Scott Mark McEvoy Sean C Dowdy Brooke L Fridley Henrica M J Werner Jone Trovik Tormund S Njolstad Emma Tham Miriam Mints Ingo Runnebaum Peter Hillemanns Thilo Dörk Frederic Amant Stefanie Schrauwen Alexander Hein Matthias W Beckmann Arif Ekici Kamila Czene Alfons Meindl Manjeet K Bolla Kyriaki Michailidou Jonathan P Tyrer Qin Wang Shahana Ahmed Catherine S Healey Mitul Shah Daniela Annibali Jeroen Depreeuw Nada A Al-Tassan Rebecca Harris Brian F Meyer Nicola Whiffin Fay J Hosking Ben Kinnersley Susan M Farrington Maria Timofeeva Albert Tenesa Harry Campbell Robert W Haile Shirley Hodgson Luis Carvajal-Carmona Jeremy P Cheadle Douglas Easton Malcolm Dunlop Richard Houlston Amanda Spurdle Ian Tomlinson

Sci Rep 2015 12 1;5:17369. Epub 2015 Dec 1.

Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1038/srep17369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664893PMC
December 2015

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Dis Markers 2014 26;2014:291419. Epub 2014 Jun 26.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia ; Cardiovascular and Pharmacogenomics Unit, MBC-03-05, 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/10.1155/2014/291419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098619PMC
April 2015

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Neurosciences (Riyadh) 2015 Apr;20(2):173-7

Department of Neurosciences, MBC 76, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727640PMC
http://dx.doi.org/10.17712/nsj.2015.2.20140547DOI Listing
April 2015

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

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Arthritis Rheumatol 2015 Jan;67(1):288-95

King Faisal Specialist Hospital and Research Centre, and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/art.38877DOI Listing
January 2015

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

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:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Concomitant RAS, RET/PTC, or BRAF mutations in advanced stage of papillary thyroid carcinoma.

Thyroid 2014 Aug 10;24(8):1256-66. Epub 2014 Jun 10.

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

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http://dx.doi.org/10.1089/thy.2013.0610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106383PMC
August 2014

Increased CYP24A1 expression is associated with BRAF(V600E) mutation and advanced stages in papillary thyroid carcinoma.

Clin Endocrinol (Oxf) 2014 Jul 21;81(1):109-16. Epub 2014 Jan 21.

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

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http://dx.doi.org/10.1111/cen.12396DOI Listing
July 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Hum Mol Genet 2014 Jul 5;23(13):3456-66. Epub 2014 Feb 5.

Division of Genetics and Genomics, Department of Medicine Manton Center for Orphan Disease Research and Department of Pediatrics Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049305PMC
July 2014

A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.

Gene 2014 Jul 28;544(2):152-8. Epub 2014 Apr 28.

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

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http://dx.doi.org/10.1016/j.gene.2014.04.064DOI Listing
July 2014

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

Neuromuscul Disord 2014 Apr 4;24(4):353-9. Epub 2014 Jan 4.

Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Saudi Arabia; Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

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http://dx.doi.org/10.1016/j.nmd.2013.12.010DOI Listing
April 2014

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Hum Genomics 2013 Dec 12;7:25. Epub 2013 Dec 12.

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

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http://dx.doi.org/10.1186/1479-7364-7-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899629PMC
December 2013

The 3'-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits.

BMC Med Genet 2013 Dec 13;14:127. Epub 2013 Dec 13.

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/10.1186/1471-2350-14-127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925068PMC
December 2013

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.

Hum Genomics 2013 Jun 5;7:15. Epub 2013 Jun 5.

King Faisal Heart Institute, MBC-16, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1479-7364-7-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681549PMC
June 2013

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

Authors:
Momoko Horikoshi Hanieh Yaghootkar Dennis O Mook-Kanamori Ulla Sovio H Rob Taal Branwen J Hennig Jonathan P Bradfield Beate St Pourcain David M Evans Pimphen Charoen Marika Kaakinen Diana L Cousminer Terho Lehtimäki Eskil Kreiner-Møller Nicole M Warrington Mariona Bustamante Bjarke Feenstra Diane J Berry Elisabeth Thiering Thiemo Pfab Sheila J Barton Beverley M Shields Marjan Kerkhof Elisabeth M van Leeuwen Anthony J Fulford Zoltán Kutalik Jing Hua Zhao Marcel den Hoed Anubha Mahajan Virpi Lindi Liang-Kee Goh Jouke-Jan Hottenga Ying Wu Olli T Raitakari Marie N Harder Aline Meirhaeghe Ioanna Ntalla Rany M Salem Karen A Jameson Kaixin Zhou Dorota M Monies Vasiliki Lagou Mirna Kirin Jani Heikkinen Linda S Adair Fowzan S Alkuraya Ali Al-Odaib Philippe Amouyel Ehm Astrid Andersson Amanda J Bennett Alexandra I F Blakemore Jessica L Buxton Jean Dallongeville Shikta Das Eco J C de Geus Xavier Estivill Claudia Flexeder Philippe Froguel Frank Geller Keith M Godfrey Frédéric Gottrand Christopher J Groves Torben Hansen Joel N Hirschhorn Albert Hofman Mads V Hollegaard David M Hougaard Elina Hyppönen Hazel M Inskip Aaron Isaacs Torben Jørgensen Christina Kanaka-Gantenbein John P Kemp Wieland Kiess Tuomas O Kilpeläinen Norman Klopp Bridget A Knight Christopher W Kuzawa George McMahon John P Newnham Harri Niinikoski Ben A Oostra Louise Pedersen Dirkje S Postma Susan M Ring Fernando Rivadeneira Neil R Robertson Sylvain Sebert Olli Simell Torsten Slowinski Carla M T Tiesler Anke Tönjes Allan Vaag Jorma S Viikari Jacqueline M Vink Nadja Hawwa Vissing Nicholas J Wareham Gonneke Willemsen Daniel R Witte Haitao Zhang Jianhua Zhao James F Wilson Michael Stumvoll Andrew M Prentice Brian F Meyer Ewan R Pearson Colin A G Boreham Cyrus Cooper Matthew W Gillman George V Dedoussis Luis A Moreno Oluf Pedersen Maiju Saarinen Karen L Mohlke Dorret I Boomsma Seang-Mei Saw Timo A Lakka Antje Körner Ruth J F Loos Ken K Ong Peter Vollenweider Cornelia M van Duijn Gerard H Koppelman Andrew T Hattersley John W Holloway Berthold Hocher Joachim Heinrich Chris Power Mads Melbye Mònica Guxens Craig E Pennell Klaus Bønnelykke Hans Bisgaard Johan G Eriksson Elisabeth Widén Hakon Hakonarson André G Uitterlinden Anneli Pouta Debbie A Lawlor George Davey Smith Timothy M Frayling Mark I McCarthy Struan F A Grant Vincent W V Jaddoe Marjo-Riitta Jarvelin Nicholas J Timpson Inga Prokopenko Rachel M Freathy

Nat Genet 2013 Jan 2;45(1):76-82. Epub 2012 Dec 2.

Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.2477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605762PMC
January 2013

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Am J Med Genet A 2012 Jan 21;158A(1):245-6. Epub 2011 Nov 21.

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

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http://doi.wiley.com/10.1002/ajmg.a.34347
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34347DOI Listing
January 2012

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Neurosciences (Riyadh) 2012 Jan;17(1):48-52

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

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January 2012

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.

Endocrine 2011 Aug 21;40(1):14-20. Epub 2011 May 21.

Department of Genetics (MBC-03), 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/s12020-011-9489-7DOI Listing
August 2011

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.

J Clin Endocrinol Metab 2010 Sep 9;95(9):4176-83. Epub 2010 Jun 9.

Departments of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1210/jc.2009-2278DOI Listing
September 2010

A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease.

Atherosclerosis 2010 Mar 9;209(1):152-4. Epub 2009 Sep 9.

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

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http://dx.doi.org/10.1016/j.atherosclerosis.2009.09.005DOI Listing
March 2010

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

BMC Res Notes 2010 Mar 18;3:79. Epub 2010 Mar 18.

Saudi Diagnostics Laboratory, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1756-0500-3-79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851718PMC
March 2010

Characterization of CTNS mutations in Arab patients with cystinosis.

Ophthalmic Genet 2009 Dec;30(4):185-9

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

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http://dx.doi.org/10.3109/13816810903200953DOI Listing
December 2009

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Invest Ophthalmol Vis Sci 2009 Sep 15;50(9):4142-5. Epub 2009 Apr 15.

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

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http://dx.doi.org/10.1167/iovs.08-3006DOI Listing
September 2009

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.

Ann Hum Genet 2009 Sep 16;73(Pt 5):475-83. Epub 2009 Jun 16.

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

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http://dx.doi.org/10.1111/j.1469-1809.2009.00534.xDOI Listing
September 2009

Corneal decompensation in recessive cornea plana.

Ophthalmic Genet 2009 Sep;30(3):142-5

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1080/13816810902937084DOI Listing
September 2009

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.

BMC Res Notes 2009 Mar 24;2:48. Epub 2009 Mar 24.

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

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http://dx.doi.org/10.1186/1756-0500-2-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663774PMC
March 2009

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Am J Med Genet A 2009 Feb;149A(4):662-5

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

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http://dx.doi.org/10.1002/ajmg.a.32753DOI Listing
February 2009

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

BMC Med Genet 2008 Jul 26;9:72. Epub 2008 Jul 26.

Saudi Diagnostic Laboratory, Research Centre, King Faisal Specialist Hopital and Research Center, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-9-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2515290PMC
July 2008

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.

Diabetes Metab Res Rev 2008 Feb;24(2):137-40

Arabian Diagnostic Laboratory (ADL), Research Centre, King Faisal Specialist Hospital and Research Centre, and Diabetes Center, King Abdulaziz University Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/dmrr.777DOI Listing
February 2008

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

BMC Med Genet 2006 Dec 16;7:86. Epub 2006 Dec 16.

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

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http://dx.doi.org/10.1186/1471-2350-7-86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764877PMC
December 2006

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

BMC Med Genet 2006 May 3;7:43. Epub 2006 May 3.

Arabian Diagnostic Laboratory, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-7-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468397PMC
May 2006

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs).

J Leukoc Biol 2002 Mar;71(3):433-44

Biological & Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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March 2002