Literature DB >> 31585110

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

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.   

Abstract

Year:  2019        PMID： 31585110      PMCID： PMC6817532          DOI： 10.1016/j.ajhg.2019.09.019

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


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  12 in total

Review 1.  The clinical utility of exome and genome sequencing across clinical indications: a systematic review.

Authors:  Salma Shickh; Chloe Mighton; Elizabeth Uleryk; Petros Pechlivanoglou; Yvonne Bombard
Journal:  Hum Genet       Date:  2021-08-08       Impact factor: 4.132

2.  A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.

Authors:  Yue Qin; Yasong Du; Liqiang Chen; Yanyan Liu; Wenjing Xu; Ying Liu; Ying Li; Jing Leng; Yalan Wang; Xiao-Yong Zhang; Jianfeng Feng; Feng Zhang; Li Jin; Zilong Qiu; Xiaohong Gong; Hongyan Wang
Journal:  Mol Psychiatry       Date:  2022-04-06       Impact factor: 13.437

3.  Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Authors:  Caroline Neuray; Reza Maroofian; Marcello Scala; Tipu Sultan; Gurpur S Pai; Majid Mojarrad; Heba El Khashab; Leigh deHoll; Wyatt Yue; Hessa S Alsaif; Maria N Zanetti; Oscar Bello; Richard Person; Atieh Eslahi; Zaynab Khazaei; Masoumeh H Feizabadi; Stephanie Efthymiou; Hala T El-Bassyouni; Doaa R Soliman; Selahattin Tekes; Leyla Ozer; Volkan Baltaci; Suliman Khan; Christian Beetz; Khalda S Amr; Vincenzo Salpietro; Yalda Jamshidi; Fowzan S Alkuraya; Henry Houlden
Journal:  Brain       Date:  2020-08-01       Impact factor: 13.501

4.  Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Authors:  Mohamed H Al-Hamed; Nada Alsahan; Maha Tulbah; Wesam Kurdi; Wafa'a Ali; John A Sayer; Faiqa Imtiaz
Journal:  Genes (Basel)       Date:  2020-08-20       Impact factor: 4.096

Review 5.  Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

Authors:  Aideen M McInerney-Leo; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-19       Impact factor: 5.555

6.  De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Authors:  Laura Castilla-Vallmanya; Semra Gürsoy; Özlem Giray-Bozkaya; Aina Prat-Planas; Gemma Bullich; Leslie Matalonga; Mónica Centeno-Pla; Raquel Rabionet; Daniel Grinberg; Susanna Balcells; Roser Urreizti
Journal:  Int J Mol Sci       Date:  2021-02-04       Impact factor: 5.923

7.  Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia.

Authors:  Rongchun Wang; Danhui Yang; Ting Guo; Cheng Lei; Xu Chen; Xi Kang; Jie Qing; Hong Luo
Journal:  Front Genet       Date:  2021-02-26       Impact factor: 4.599

8.  Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Authors:  Francesca Peluso; Stefano Giuseppe Caraffi; Roberta Zuntini; Gabriele Trimarchi; Ivan Ivanovski; Lara Valeri; Veronica Barbieri; Maria Marinelli; Alessia Pancaldi; Nives Melli; Claudia Cesario; Emanuele Agolini; Elena Cellini; Francesca Clementina Radio; Antonella Crisafi; Manuela Napoli; Renzo Guerrini; Marco Tartaglia; Antonio Novelli; Giancarlo Gargano; Orsetta Zuffardi; Livia Garavelli
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096

9.  Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Authors:  Alexa Derksen; Hung-Yu Shih; Diane Forget; Lama Darbelli; Luan T Tran; Christian Poitras; Kether Guerrero; Sundaresan Tharun; Fowzan S Alkuraya; Wesam I Kurdi; Cam-Tu Emilie Nguyen; Anne-Marie Laberge; Yue Si; Marie-Soleil Gauthier; Joshua L Bonkowsky; Benoit Coulombe; Geneviève Bernard
Journal:  HGG Adv       Date:  2021-05-05

10.  History of the methodology of disease gene identification.

Authors:  Stylianos E Antonarakis
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802
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