Publications by authors named "Dorota Monies"

59Publications

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.

Eur J Hum Genet 2020 Aug 1;28(8):1098-1110. Epub 2020 Apr 1.

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

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http://dx.doi.org/10.1038/s41431-020-0619-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382449PMC
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

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

Am J Hum Genet 2019 06 9;104(6):1202-1209. Epub 2019 May 9.

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.2019.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556876PMC
June 2019

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

Parkinsonism Relat Disord 2019 07 28;64:145-149. 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
July 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

β1 Integrin is essential for fascin-mediated breast cancer stem cell function and disease progression.

Int J Cancer 2019 08 18;145(3):830-841. Epub 2019 Feb 18.

Stem Cell and Tissue Re-Engineering Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ijc.32183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593770PMC
August 2019

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

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

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

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

BMC Res Notes 2016 Jun 7;9:295. Epub 2016 Jun 7.

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

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http://dx.doi.org/10.1186/s13104-016-2102-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897907PMC
June 2016

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

Genet Med 2016 12 28;18(12):1244-1249. Epub 2016 Apr 28.

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

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http://dx.doi.org/10.1038/gim.2016.37DOI Listing
December 2016

A null mutation in TNIK defines a novel locus for intellectual disability.

Hum Genet 2016 07 22;135(7):773-8. Epub 2016 Apr 22.

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

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http://dx.doi.org/10.1007/s00439-016-1671-9DOI Listing
July 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

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

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

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

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

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

J Clin Endocrinol Metab 2013 May 26;98(5):E943-53. Epub 2013 Mar 26.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2012-4116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644607PMC
May 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

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