Literature DB >> 33667392

ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.

Cynthia C Morton1.   

Abstract

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.
Copyright © 2020.

Entities:  

Mesh：

Year:  2021        PMID： 33667392      PMCID： PMC8175847          DOI： 10.1016/j.ajhg.2020.12.008

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  26 in total

1.  Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa).

Authors:  F S Alkuraya; R A Kilani
Journal:  Prenat Diagn       Date:  2001-06       Impact factor: 3.050

2.  Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Authors:  Sulaiman M Al-Mayouf; Asma Sunker; Reem Abdwani; Safiya Al Abrawi; Fathiya Almurshedi; Nadia Alhashmi; Abdullah Al Sonbul; Wafaa Sewairi; Aliya Qari; Eiman Abdallah; Mohammed Al-Owain; Saleh Al Motywee; Hanan Al-Rayes; Mais Hashem; Hanif Khalak; Latifa Al-Jebali; Fowzan S Alkuraya
Journal:  Nat Genet       Date:  2011-10-23       Impact factor: 38.330

3.  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
Journal:  Am J Hum Genet       Date:  2019-05-23       Impact factor: 11.025

4.  When DNA and culture clash.

Authors:  Jocelyn Kaiser
Journal:  Science       Date:  2016-12-09       Impact factor: 47.728

5.  SUMO1 haploinsufficiency leads to cleft lip and palate.

Authors:  Fowzan S Alkuraya; Irfan Saadi; Jennifer J Lund; Annick Turbe-Doan; Cynthia C Morton; Richard L Maas
Journal:  Science       Date:  2006-09-22       Impact factor: 47.728

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

Authors:  Dorota Monies; Cathrine Broberg Vågbø; Mohammad Al-Owain; Suzan Alhomaidi; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2019-05-09       Impact factor: 11.025

7.  Revisiting the morbid genome of Mendelian disorders.

Authors:  Mohamed Abouelhoda; Tariq Faquih; Mohamed El-Kalioby; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2016-11-24       Impact factor: 13.583

8.  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
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132

9.  Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Authors:  Sateesh Maddirevula; Hiroyuki Kuwahara; Nour Ewida; Hanan E Shamseldin; Nisha Patel; Fatema Alzahrani; Tarfa AlSheddi; Eman AlObeid; Mona Alenazi; Hessa S Alsaif; Maha Alqahtani; Maha AlAli; Hatoon Al Ali; Rana Helaby; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Nadine Hanna; Dorota Monies; Nada Derar; Afaf Alsagheir; Amal Alhashem; Badr Alsaleem; Hamoud Alhebbi; Sami Wali; Ramzan Umarov; Xin Gao; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2020-06-17       Impact factor: 13.583

10.  Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.

Authors:  Ranad Shaheen; Ghada M H Abdel-Salam; Michael P Guy; Rana Alomar; Mohamed S Abdel-Hamid; Hanan H Afifi; Samira I Ismail; Bayoumi A Emam; Eric M Phizicky; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2015-09-28       Impact factor: 13.583
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.