Literature DB >> 27573686

Genomic landscape of the Greater Middle East.

Tayfun Özçelik1,1, Onur Emre Onat1.   

Abstract

Study of the Greater Middle East (GME), home to approximately 10% of the world's population, has made invaluable contributions to the characterization of rare genetic disease, especially recessive conditions arising from the tradition of consanguinity and large families with multiple children. A new study now reports 1,111 unrelated exomes from the GME and provides a comprehensive view of genetic variation for enhanced discovery of disease-associated genes.

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Year:  2016        PMID: 27573686     DOI: 10.1038/ng.3652

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  11 in total

1.  Collaborative genomics for human health and cooperation in the Mediterranean region.

Authors:  Tayfun Ozçelik; Moien Kanaan; Karen B Avraham; Drakoulis Yannoukakos; André Mégarbané; Ghazi O Tadmouri; Lefkos Middleton; Giovanni Romeo; Mary-Claire King; Ephrat Levy-Lahad
Journal:  Nat Genet       Date:  2010-08       Impact factor: 38.330

2.  Genetic heterogeneity in human disease.

Authors:  Jon McClellan; Mary-Claire King
Journal:  Cell       Date:  2010-04-16       Impact factor: 41.582

Review 3.  Reverse genetics and human disease.

Authors:  S H Orkin
Journal:  Cell       Date:  1986-12-26       Impact factor: 41.582

4.  Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.

Authors:  Gülşah M Dal; Bekir Ergüner; Mahmut S Sağıroğlu; Bayram Yüksel; Onur Emre Onat; Can Alkan; Tayfun Özçelik
Journal:  J Med Genet       Date:  2014-04-24       Impact factor: 6.318

5.  Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Authors:  Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K Lee; Okan Dogu; Tulay Kansu; Haluk Topaloglu; Bulent Elibol; Cenk Akbostanci; Mary-Claire King; Tayfun Ozcelik; Ayse B Tekinay
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-24       Impact factor: 11.205

6.  Linkage of early-onset familial breast cancer to chromosome 17q21.

Authors:  J M Hall; M K Lee; B Newman; J E Morrow; L A Anderson; B Huey; M C King
Journal:  Science       Date:  1990-12-21       Impact factor: 47.728

7.  Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Authors:  Suleyman Gulsuner; Tom Walsh; Amanda C Watts; Ming K Lee; Anne M Thornton; Silvia Casadei; Caitlin Rippey; Hashem Shahin; Vishwajit L Nimgaonkar; Rodney C P Go; Robert M Savage; Neal R Swerdlow; Raquel E Gur; David L Braff; Mary-Claire King; Jon M McClellan
Journal:  Cell       Date:  2013-08-01       Impact factor: 41.582

8.  Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Authors:  M D Ricciardone; T Ozçelik; B Cevher; H Ozdağ; M Tuncer; A Gürgey; O Uzunalimoğlu; H Cetinkaya; A Tanyeli; E Erken; M Oztürk
Journal:  Cancer Res       Date:  1999-01-15       Impact factor: 12.701

9.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

10.  Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Authors:  Eric M Scott; Anason Halees; Yuval Itan; Emily G Spencer; Yupeng He; Mostafa Abdellateef Azab; Stacey B Gabriel; Aziz Belkadi; Bertrand Boisson; Laurent Abel; Andrew G Clark; Fowzan S Alkuraya; Jean-Laurent Casanova; Joseph G Gleeson
Journal:  Nat Genet       Date:  2016-07-18       Impact factor: 38.330

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  7 in total

1.  al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.

Authors:  Remya Koshy; Anop Ranawat; Vinod Scaria
Journal:  J Hum Genet       Date:  2017-06-22       Impact factor: 3.172

2.  Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.

Authors:  Abhinav Jain; Shrey Gandhi; Remya Koshy; Vinod Scaria
Journal:  Mol Genet Genomics       Date:  2018-03-20       Impact factor: 3.291

3.  Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.

Authors:  Alina Patke; Patricia J Murphy; Onur Emre Onat; Ana C Krieger; Tayfun Özçelik; Scott S Campbell; Michael W Young
Journal:  Cell       Date:  2017-04-06       Impact factor: 41.582

4.  Human CRY1 variants associate with attention deficit/hyperactivity disorder.

Authors:  O Emre Onat; M Ece Kars; Şeref Gül; Kaya Bilguvar; Yiming Wu; Ayşe Özhan; Cihan Aydın; A Nazlı Başak; M Allegra Trusso; Arianna Goracci; Chiara Fallerini; Alessandra Renieri; Jean-Laurent Casanova; Yuval Itan; Cem E Atbaşoğlu; Meram C Saka; İ Halil Kavaklı; Tayfun Özçelik
Journal:  J Clin Invest       Date:  2020-07-01       Impact factor: 14.808

5.  Medical genetics and genomic medicine in Turkey: a bright future at a new era in life sciences.

Authors:  Tayfun Özçelik
Journal:  Mol Genet Genomic Med       Date:  2017-09-03       Impact factor: 2.183

6.  A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

Authors:  Hussein Sheikh Mohamoud; Saleem Ahmed; Musharraf Jelani; Nuha Alrayes; Kay Childs; Nirmal Vadgama; Mona Mohammad Almramhi; Jumana Yousuf Al-Aama; Steve Goodbourn; Jamal Nasir
Journal:  Sci Rep       Date:  2018-02-01       Impact factor: 4.379

7.  A jerk-based algorithm ACCEL for the accurate classification of sleep-wake states from arm acceleration.

Authors:  Koji L Ode; Shoi Shi; Machiko Katori; Kentaro Mitsui; Shin Takanashi; Ryo Oguchi; Daisuke Aoki; Hiroki R Ueda
Journal:  iScience       Date:  2022-01-01
  7 in total

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