Publications by authors named "Eman AlObeid"

14Publications

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

Genome Biol 2020 06 17;21(1):145. Epub 2020 Jun 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2020

The morbid genome of ciliopathies: an update.

Authors:
Hanan E Shamseldin Ranad Shaheen Nour Ewida Dalal K Bubshait Hisham Alkuraya Elham Almardawi Ali Howaidi Yasser Sabr Ebtesam M Abdalla Abdullah Y Alfaifi Jameel Mohammed Alghamdi Afaf Alsagheir Ahmed Alfares Heba Morsy Maged H Hussein Mohammad A Al-Muhaizea Mohammad Shagrani Essam Al Sabban Mustafa A Salih Neama Meriki Rubina Khan Maisoon Almugbel Alya Qari Maha Tulba Mohammed Mahnashi Khalid Alhazmi Abrar K Alsalamah Sawsan R Nowilaty Amal Alhashem Mais Hashem Firdous Abdulwahab Niema Ibrahim Tarfa Alshidi Eman AlObeid Mona M Alenazi Hamad Alzaidan Zuhair Rahbeeni Mohammed Al-Owain Sameera Sogaty Mohammed Zain Seidahmed Fowzan S Alkuraya

Genet Med 2020 Jun 14;22(6):1051-1060. Epub 2020 Feb 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2020

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Authors:
Nisha Patel Salim Alkeraye Eman Alobeid Tarfa Alshidi Rana Helaby Firdous Abdulwahab Hanan E Shamseldin Fowzan S Alkuraya

Clin Genet 2020 04 12;97(4):661-665. Epub 2020 Jan 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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April 2020

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

Authors:
Ranad Shaheen Saud Alsahli Nour Ewida Fatema Alzahrani Hanan E Shamseldin Nisha Patel Awad Al Qahtani Homoud Alhebbi Amal Alhashem Tarfa Al-Sheddi Rana Alomar Eman Alobeid Mohamed Abouelhoda Dorota Monies Abdulrahman Al-Hussaini Muneerah A Alzouman Mohammad Shagrani Eissa Faqeih Fowzan S Alkuraya

Hepatology 2020 Jun 20;71(6):2067-2079. Epub 2020 Feb 20.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2020

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.

Authors:
Ranad Shaheen Paul Mark Christopher T Prevost Adila AlKindi Ahmad Alhag Fatima Estwani Tarfa Al-Sheddi Eman Alobeid Mona M Alenazi Nour Ewida Niema Ibrahim Mais Hashem Firdous Abdulwahab Emily M Bryant Egidio Spinelli John Millichap Sarah S Barnett Hutton M Kearney Andrea Accogli Marcello Scala Valeria Capra Vincenzo Nigro Dragony Fu Fowzan S Alkuraya

Hum Mutat 2019 11 29;40(11):2108-2120. Epub 2019 Jul 29.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Saudi Arabia.

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November 2019

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Authors:
Ranad Shaheen Nan Jiang Fatema Alzahrani Nour Ewida Tarfa Al-Sheddi Eman Alobeid Damir Musaev Valentina Stanley Mais Hashem Niema Ibrahim Firdous Abdulwahab Abduljabbar Alshenqiti Fatma Mujgan Sonmez Nadia Saqati Hamad Alzaidan Mohammad M Al-Qattan Futwan Al-Mohanna Joseph G Gleeson Fowzan S Alkuraya

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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April 2019

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Authors:
Ranad Shaheen Monika Tasak Sateesh Maddirevula Ghada M H Abdel-Salam Inas S M Sayed Anas M Alazami Tarfa Al-Sheddi Eman Alobeid Eric M Phizicky Fowzan S Alkuraya

Hum Genet 2019 Mar 18;138(3):231-239. Epub 2019 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2019

NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

Authors:
Hanan E Shamseldin Nawal Makhseed Niema Ibrahim Tarfa Al-Sheddi Eman Alobeid Firdous Abdulwahab Fowzan S Alkuraya

Hum Genet 2019 Mar 13;138(3):221-229. Epub 2019 Feb 13.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2019

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Authors:
Jumanah Alshenaifi Nour Ewida Shams Anazi Hanan E Shamseldin Nisha Patel Sateesh Maddirevula Tarfa Al-Sheddi Rana Alomar Eman Alobeid Niema Ibrahim Mais Hashem Firdous Abdulwahab Minnie Jacob Amal Alhashem Hamad I Alzaidan Mohammed Z Seidahmed Nadia Alhashemi Rifaat Rawashdeh Wafaa Eyaid Zuhair N Al-Hassnan Zuhair Rahbeeni Abdulrahman Alswaid Adnan Hadid Alya Qari Dia A Mohammed Heba Y El Khashab Majid Alfadhel Mohammad Abanemai Rawda Sunbul Saeed Al Tala Salwa Alkhalifi Turki Alkharfi Mohamed Abouelhoda Dorota Monies Nada Al Tassan Saud H AlDubayan Wesam Kurdi Mohammed Al-Owain Majed J Dasouki Amal Y Kentab Suha Atyani Nawal Makhseed Eissa Faqeih Ranad Shaheen Fowzan S Alkuraya

Clin Genet 2019 02 18;95(2):310-319. Epub 2018 Dec 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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February 2019

Genomic and phenotypic delineation of congenital microcephaly.

Authors:
Ranad Shaheen Sateesh Maddirevula Nour Ewida Saud Alsahli Ghada M H Abdel-Salam Maha S Zaki Saeed Al Tala Amal Alhashem Ameen Softah Mohammed Al-Owain Anas M Alazami Basma Abadel Nisha Patel Tarfa Al-Sheddi Rana Alomar Eman Alobeid Niema Ibrahim Mais Hashem Firdous Abdulwahab Muddathir Hamad Brahim Tabarki Ali H Alwadei Fahad Alhazzani Fahad A Bashiri Amal Kentab Serdar Şahintürk Elliott Sherr Brieana Fregeau Samira Sogati Saad Ali M Alshahwan Salwa Alkhalifi Zainab Alhumaidi Samia Temtamy Mona Aglan Ghada Otaify Katta M Girisha Maha Tulbah Mohammed Zain Seidahmed Mustafa A Salih Mohamed Abouelhoda Afaque A Momin Muna Al Saffar Jennifer N Partlow Stefan T Arold Eissa Faqeih Christopher Walsh Fowzan S Alkuraya

Genet Med 2019 03 14;21(3):545-552. Epub 2018 Sep 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2019

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.

Authors:
Nisha Patel Arif O Khan Maher Al-Saif Walid N Moghrabi Balsam M AlMaarik Niema Ibrahim Firdous Abdulwahab Mais Hashem Tarfa Alshidi Eman Alobeid Rana A Alomar Saad Al-Harbi Mohamed Abouelhoda Khalid S A Khabar Fowzan S Alkuraya

Genome Biol 2017 07 28;18(1):144. Epub 2017 Jul 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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July 2017

The genetic landscape of familial congenital hydrocephalus.

Authors:
Ranad Shaheen Mohammed Adeeb Sebai Nisha Patel Nour Ewida Wesam Kurdi Ikhlass Altweijri Sameera Sogaty Elham Almardawi Mohammed Zain Seidahmed Abdulrahman Alnemri Sateesh Madirevula Niema Ibrahim Firdous Abdulwahab Mais Hashem Tarfa Al-Sheddi Rana Alomar Eman Alobeid Bahauddin Sallout Badi AlBaqawi Wajeih AlAali Nouf Ajaji Harry Lesmana Robert J Hopkin Lucie Dupuis Roberto Mendoza-Londono Hadeel Al Rukban Grace Yoon Eissa Faqeih Fowzan S Alkuraya

Ann Neurol 2017 Jun;81(6):890-897

Departments of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2017

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Authors:
Nisha Patel Hanan E Shamseldin Nadia Sakati Arif O Khan Ameen Softa Fatima M Al-Fadhli Mais Hashem Firdous M Abdulwahab Tarfa Alshidi Rana Alomar Eman Alobeid Salma M Wakil Dilek Colak Fowzan S Alkuraya

Am J Hum Genet 2017 May;100(5):831-836

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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May 2017

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

Authors:
Ranad Shaheen Lu Han Eissa Faqeih Nour Ewida Eman Alobeid Eric M Phizicky Fowzan S Alkuraya

Hum Genet 2016 07 7;135(7):707-13. Epub 2016 Apr 7.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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July 2016