Literature DB >> 33667393

2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.

Fowzan S Alkuraya1.   

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： 33667393      PMCID： PMC8175866          DOI： 10.1016/j.ajhg.2020.12.009

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


  23 in total

1.  T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Authors:  Ranad Shaheen; Essam Alshail; Ahmed Alaqeel; Shinu Ansari; Farah Hindieh; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2015-07-26       Impact factor: 4.132

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.  Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles.

Authors:  Nisha Patel; Mohammad I El Mouzan; Sulaiman M Al-Mayouf; Nouran Adly; Jawahir Y Mohamed; Mohammad A Al Mofarreh; Niema Ibrahim; Yong Xiong; Qi Zhao; Khalid A Al-Saleem; Fowzan S Alkuraya
Journal:  Gut       Date:  2014-08-21       Impact factor: 23.059

4.  Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Authors:  Ranad Shaheen; Zuhair Rahbeeni; Amal Alhashem; Eissa Faqeih; Qi Zhao; Yong Xiong; Agaadir Almoisheer; Sarah M Al-Qattan; Halima A Almadani; Noufa Al-Onazi; Badi S Al-Baqawi; Mohammad Ali Saleh; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2014-05-15       Impact factor: 11.025

5.  Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Authors:  Anas M Alazami; Sarah M Al-Qattan; Eissa Faqeih; Amal Alhashem; Muneera Alshammari; Fatema Alzahrani; Mohammed S Al-Dosari; Nisha Patel; Afaf Alsagheir; Bassam Binabbas; Hamad Alzaidan; Abdulmonem Alsiddiky; Nasser Alharbi; Majid Alfadhel; Amal Kentab; Riza M Daza; Martin Kircher; Jay Shendure; Mais Hashem; Saif Alshahrani; Zuhair Rahbeeni; Ola Khalifa; Ranad Shaheen; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-03-29       Impact factor: 4.132

6.  A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

Authors:  Fuad Al Mutairi; Fatema Alzahrani; Farouq Ababneh; Amna A Kashgari; Fowzan S Alkuraya
Journal:  Ann Neurol       Date:  2018-02-09       Impact factor: 10.422

Review 7.  Autozygome decoded.

Authors:  Fowzan S Alkuraya
Journal:  Genet Med       Date:  2010-12       Impact factor: 8.822

8.  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

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

Authors:  Mohamed Abouelhoda; Turki Sobahy; Mohamed El-Kalioby; Nisha Patel; Hanan Shamseldin; Dorota Monies; Nada Al-Tassan; Khushnooda Ramzan; Faiqa Imtiaz; Ranad Shaheen; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2016-04-28       Impact factor: 8.822

10.  Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Authors:  Ahmed B Alsalem; Anason S Halees; Shamsa Anazi; Shomoukh Alshamekh; Fowzan S Alkuraya
Journal:  PLoS Genet       Date:  2013-12-19       Impact factor: 5.917
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  2 in total

1.  Genomic medicine in the Middle East.

Authors:  Ahmad N Abou Tayoun; Khalid A Fakhro; Alawi Alsheikh-Ali; Fowzan S Alkuraya
Journal:  Genome Med       Date:  2021-11-23       Impact factor: 11.117

2.  Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Authors:  Hanan E Shamseldin; Lama AlAbdi; Sateesh Maddirevula; Hessa S Alsaif; Fatema Alzahrani; Nour Ewida; Mais Hashem; Firdous Abdulwahab; Omar Abuyousef; Hiroyuki Kuwahara; Xin Gao; Fowzan S Alkuraya
Journal:  Genome Med       Date:  2021-10-13       Impact factor: 11.117
  2 in total

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