Literature DB >> 28454995

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

Ahmed Alfares1, Majid Alfadhel2, Tariq Wani3, Saud Alsahli4, Iram Alluhaydan5, Fuad Al Mutairi2, Ali Alothaim6, Mohammed Albalwi6, Lamia Al Subaie5, Saeed Alturki7, Waleed Al-Twaijri8, Muhammad Alrifai8, Ahmed Al-Rumayya8, Seham Alameer9, Eissa Faqeeh3, Ali Alasmari3, Abdulaziz Alsamman3, Soha Tashkandia3, Abdulaziz Alghamdi10, Amal Alhashem10, Brahim Tabarki10, Saad AlShahwan10, Khalid Hundallah10, Sami Wali10, Homoud Al-Hebbi10, Amir Babiker11, Sarar Mohamed11, Wafaa Eyaid2, Abdul Ali Peer Zada3.   

Abstract

Keywords:  Clinical exome interpretation; Consanguinity; Diagnostic odyssey; Next-generation sequencing; Whole-exome sequencing

Mesh：

Year:  2017        PMID： 28454995     DOI： 10.1016/j.ymgme.2017.04.002

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  24 in total

1.  Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.

Authors:  Hamdan Alrajhi; Jubara Alallah; Aiman Shawli; Khalid Alghamdi; Fahad Hakami
Journal:  BMJ Case Rep       Date:  2019-05-30

2.  Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Authors:  Saud Alsahli; Ahmed Alfares; Francisco J Guzmán-Vega; Stefan T Arold; Duaa Ba-Armah; Fuad Al Mutairi
Journal:  Neurogenetics       Date:  2019-04-10       Impact factor: 2.660

3.  Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Authors:  Thuy-Linh Le; Louise Galmiche; Jonathan Levy; Pim Suwannarat; Debby Mei Hellebrekers; Khomgrit Morarach; Franck Boismoreau; Tom Ej Theunissen; Mathilde Lefebvre; Anna Pelet; Jelena Martinovic; Antoinette Gelot; Fabien Guimiot; Amanda Calleroz; Cyril Gitiaux; Marie Hully; Olivier Goulet; Christophe Chardot; Severine Drunat; Yline Capri; Christine Bole-Feysot; Patrick Nitschké; Sandra Whalen; Linda Mouthon; Holly E Babcock; Robert Hofstra; Irenaeus Fm de Coo; Anne-Claude Tabet; Thierry J Molina; Boris Keren; Alice Brooks; Hubert Jm Smeets; Ulrika Marklund; Christopher T Gordon; Stanislas Lyonnet; Jeanne Amiel; Nadège Bondurand
Journal:  J Clin Invest       Date:  2021-03-15       Impact factor: 14.808

Review 4.  Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.

Authors:  Hayden A M Hatch; Julie Secombe
Journal:  FEBS J       Date:  2021-09-18       Impact factor: 5.542

5.  Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Authors:  Manuela Wiessner; Reza Maroofian; Meng-Yuan Ni; Andrea Pedroni; Juliane S Müller; Rolf Stucka; Christian Beetz; Stephanie Efthymiou; Filippo M Santorelli; Ahmed A Alfares; Changlian Zhu; Anna Uhrova Meszarosova; Elham Alehabib; Somayeh Bakhtiari; Andreas R Janecke; Maria Gabriela Otero; Jin Yun Helen Chen; James T Peterson; Tim M Strom; Peter De Jonghe; Tine Deconinck; Willem De Ridder; Jonathan De Winter; Rossella Pasquariello; Ivana Ricca; Majid Alfadhel; Bart P van de Warrenburg; Ruben Portier; Carsten Bergmann; Saghar Ghasemi Firouzabadi; Sheng Chih Jin; Kaya Bilguvar; Sherifa Hamed; Mohammed Abdelhameed; Nourelhoda A Haridy; Shazia Maqbool; Fatima Rahman; Najwa Anwar; Jenny Carmichael; Alistair Pagnamenta; Nick W Wood; Frederic Tran Mau-Them; Tobias Haack; Maja Di Rocco; Isabella Ceccherini; Michele Iacomino; Federico Zara; Vincenzo Salpietro; Marcello Scala; Marta Rusmini; Yiran Xu; Yinghong Wang; Yasuhiro Suzuki; Kishin Koh; Haitian Nan; Hiroyuki Ishiura; Shoji Tsuji; Laëtitia Lambert; Emmanuelle Schmitt; Elodie Lacaze; Hanna Küpper; David Dredge; Cara Skraban; Amy Goldstein; Mary J H Willis; Katheryn Grand; John M Graham; Richard A Lewis; Francisca Millan; Özgür Duman; Nihal Dündar; Gökhan Uyanik; Ludger Schöls; Peter Nürnberg; Gudrun Nürnberg; Andrea Catala Bordes; Pavel Seeman; Martin Kuchar; Hossein Darvish; Adriana Rebelo; Filipa Bouçanova; Jean-Jacques Medard; Roman Chrast; Michaela Auer-Grumbach; Fowzan S Alkuraya; Hanan Shamseldin; Saeed Al Tala; Jamileh Rezazadeh Varaghchi; Maryam Najafi; Selina Deschner; Dieter Gläser; Wolfgang Hüttel; Michael C Kruer; Erik-Jan Kamsteeg; Yoshihisa Takiyama; Stephan Züchner; Jonathan Baets; Matthis Synofzik; Rebecca Schüle; Rita Horvath; Henry Houlden; Luca Bartesaghi; Hwei-Jen Lee; Konstantinos Ampatzis; Tyler Mark Pierson; Jan Senderek
Journal:  Brain       Date:  2021-06-22       Impact factor: 13.501

6.  Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.

Authors:  Fatemeh Bitarafan; Mehrnoosh Khodaeian; Elham Amjadi Sardehaei; Fatemeh Zahra Darvishi; Navid Almadani; Yalda Nilipour; Masoud Garshasbi
Journal:  Mol Cell Pediatr       Date:  2021-05-09

7.  The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Authors:  Majid Alfadhel; Mohammed Almuqbil; Fuad Al Mutairi; Muhammad Umair; Mohammed Almannai; Malak Alghamdi; Hamad Althiyab; Rayyan Albarakati; Fahad A Bashiri; Walaa Alshuaibi; Duaa Ba-Armah; Mohammed A Saleh; Ali Al-Asmari; Eissa Faqeih; Waleed Altuwaijri; Ahmed Al-Rumayyan; Mohammed Ali Balwi; Faroug Ababneh; Abdulrahman Faiz Alswaid; Wafaa M Eyaid; Naif A M Almontashiri; Amal Alhashem; Khalid Hundallah; Aida Bertoli-Avella; Peter Bauer; Christian Beetz; Muhammad Talal Alrifai; Ahmed Alfares; Brahim Tabarki
Journal:  Front Pediatr       Date:  2021-05-13       Impact factor: 3.418

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.  Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Authors:  Hyun Woo Son; Jeong Eun Lee; Seung Hwan Oh; Changwon Keum; Woo Yeong Chung
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

10.  What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Authors:  Ahmed Alfares; Lamia Alsubaie; Taghrid Aloraini; Aljoharah Alaskar; Azza Althagafi; Ahmed Alahmad; Mamoon Rashid; Abdulrahman Alswaid; Ali Alothaim; Wafaa Eyaid; Faroug Ababneh; Mohammed Albalwi; Raniah Alotaibi; Mashael Almutairi; Nouf Altharawi; Alhanouf Alsamer; Marwa Abdelhakim; Senay Kafkas; Katsuhiko Mineta; Nicole Cheung; Abdallah M Abdallah; Stine Büchmann-Møller; Yoshinori Fukasawa; Xiang Zhao; Issaac Rajan; Robert Hoehndorf; Fuad Al Mutairi; Takashi Gojobori; Majid Alfadhel
Journal:  BMC Med Genomics       Date:  2020-07-17       Impact factor: 3.063
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