Publications by authors named "Hanan Shamseldin"

63 Publications

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.

Authors:
Verena Klämbt Youying Mao Ronen Schneider Florian Buerger Hanan Shamseldin Ana C Onuchic-Whitford Konstantin Deutsch Thomas M Kitzler Makiko Nakayama Amar J Majmundar Nina Mann Hannah Hugo Eugen Widmeier Weizhen Tan Heidi L Rehm Shrikant Mane Richard P Lifton Fowzan S Alkuraya Shirlee Shril Friedhelm Hildebrandt

Kidney Int Rep 2021 Feb 3;6(2):460-471. Epub 2020 Dec 3.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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February 2021

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Authors:
Sateesh Maddirevula Hanan E Shamseldin Amy Sirr Lama AlAbdi Russell S Lo Nour Ewida Mashael Al-Qahtani Mais Hashem Firdous Abdulwahab Omar Aboyousef Namik Kaya Dorota Monies May H Salem Naffaa Al Harbi Hesham M Aldhalaan Hamad Alzaidan Hadeel M Almanea Abrar K Alsalamah Fuad Al Mutairi Samira Ismail Ghada M H Abdel-Salam Amal Alhashem Ali Asery Eissa Faqeih Amal AlQassmi Waleed Al-Hamoudi Talal Algoufi Mohammad Shagrani Aimée M Dudley Fowzan S Alkuraya

Front Genet 2020 31;11:580484. Epub 2020 Dec 31.

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

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December 2020

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita.

Authors:
Lama Altawil Hind Alshihry Hala Ahmed Hanan E Shamseldin Fowzan Alkuraya

JAAD Case Rep 2020 Sep 11;6(9):882-885. Epub 2020 Jul 11.

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

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September 2020

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

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

Authors:
Hanan E Shamseldin Ibrahim Al Mogarri Mansour M Alqwaiee Adel S Alharbi Khaled Baqais Muslim AlSaadi Talal AlAnzi Amal Alhashem Afaf Saghier Waleed Ameen Niema Ibrahim Jason Yang Firdous Abdulwahab Mais Hashem Raghu R Chivukula Fowzan S Alkuraya

Hum Genet 2020 Oct 4;139(10):1273-1283. Epub 2020 May 4.

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

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October 2020

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in .

Authors:
Zobaida Alsum Mofareh S AlZahrani Hamoud Al-Mousa Nouf Alkhamis Abdulkareem A Alsalemi Hanan E Shamseldin Fowzan S Alkuraya Abdullah A Alangari

Front Pediatr 2020 14;8. Epub 2020 Feb 14.

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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February 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

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Authors:
Matias Wagner Yuliya Skorobogatko Ben Pode-Shakked Cynthia M Powell Bader Alhaddad Annette Seibt Ortal Barel Gali Heimer Chen Hoffmann Laurie A Demmer Yezmin Perilla-Young Marc Remke Dagmar Wieczorek Tharsini Navaratnarajah Peter Lichtner Dirk Klee Hanan E Shamseldin Fuad Al Mutairi Ertan Mayatepek Tim Strom Thomas Meitinger Fowzan S Alkuraya Yair Anikster Alan R Saltiel Felix Distelmaier

Am J Hum Genet 2020 02 30;106(2):246-255. Epub 2020 Jan 30.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany. Electronic address:

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February 2020

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.

Authors:
Raghu R Chivukula Daniel T Montoro Hui Min Leung Jason Yang Hanan E Shamseldin Martin S Taylor Gerard W Dougherty Maimoona A Zariwala Johnny Carson M Leigh Anne Daniels Patrick R Sears Katharine E Black Lida P Hariri Ibrahim Almogarri Evgeni M Frenkel Vladimir Vinarsky Heymut Omran Michael R Knowles Guillermo J Tearney Fowzan S Alkuraya David M Sabatini

Nat Med 2020 Feb;26(2):300

Whitehead Institute for Biomedical Research, Cambridge, MA, USA.

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February 2020

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.

Authors:
Raghu R Chivukula Daniel T Montoro Hui Min Leung Jason Yang Hanan E Shamseldin Martin S Taylor Gerard W Dougherty Maimoona A Zariwala Johnny Carson M Leigh Anne Daniels Patrick R Sears Katharine E Black Lida P Hariri Ibrahim Almogarri Evgeni M Frenkel Vladimir Vinarsky Heymut Omran Michael R Knowles Guillermo J Tearney Fowzan S Alkuraya David M Sabatini

Nat Med 2020 02 20;26(2):244-251. Epub 2020 Jan 20.

Whitehead Institute for Biomedical Research, Cambridge, MA, USA.

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February 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

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.

Authors:
Melissa H Broeks Hanan E Shamseldin Amal Alhashem Mais Hashem Firdous Abdulwahab Tarfa Alshedi Iman Alobaid Fried Zwartkruis Denise Westland Sabine Fuchs Nanda M Verhoeven-Duif Judith J M Jans Fowzan S Alkuraya

Hum Genet 2019 Dec 19;138(11-12):1247-1257. Epub 2019 Sep 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia.

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December 2019

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

Authors:
Mohammed F Alosaimi Manfred Hoenig Faris Jaber Craig D Platt Jennifer Jones Jacqueline Wallace Klaus-Michael Debatin Ansgar Schulz Eva Jacobsen Peter Möller Hanan E Shamseldin Ferdous Abdulwahab Niema Ibrahim Hosam Alardati Faisal Almuhizi Ibraheem F Abosoudah Talal A Basha Janet Chou Fowzan S Alkuraya Raif S Geha

J Allergy Clin Immunol 2019 08 11;144(2):574-583.e5. Epub 2019 Mar 11.

Division of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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August 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

Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-κB-inducing kinase deficiency.

Authors:
Khaoula Ben Farhat Mohammed F Alosaimi Hiba Shendi Suleiman Al-Hammadi Jennifer Jones Klaus Schwarz Ansgar Schulz Laila S Alawdah Sandra Burchett Sultan Albuhairi Jennifer Whangbo Neha Kwatra Hanan E Shamseldin Fowzan S Alkuraya Janet Chou Raif S Geha

J Allergy Clin Immunol 2019 03 14;143(3):1240-1243.e4. Epub 2018 Nov 14.

Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass.

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March 2019

Autozygome and high throughput confirmation of disease genes candidacy.

Authors:
Sateesh Maddirevula Fatema Alzahrani Mohammed Al-Owain Mohammad A Al Muhaizea Husam R Kayyali Amal AlHashem Zuhair Rahbeeni Maha Al-Otaibi Hamad I Alzaidan Ameera Balobaid Heba Y El Khashab Dalal K Bubshait Maha Faden Suad Al Yamani Omar Dabbagh Mariam Al-Mureikhi Abdulla Al Jasser Hessa S Alsaif Iram Alluhaydan Mohammed Zain Seidahmed Bashair Hamza Alabbasi Ibrahim Almogarri Wesam Kurdi Hana Akleh Alya Qari Saeed M Al Tala Suzan Alhomaidi Amal Y Kentab Mustafa A Salih Aziza Chedrawi Seham Alameer Brahim Tabarki Hanan E Shamseldin Nisha Patel Niema Ibrahim Firdous Abdulwahab Menasria Samira Ewa Goljan Mohamed Abouelhoda Brian F Meyer Mais Hashem Ranad Shaheen Saad AlShahwan Majid Alfadhel Tawfeg Ben-Omran Mohammad M Al-Qattan Dorota Monies Fowzan S Alkuraya

Genet Med 2019 03 21;21(3):736-742. Epub 2018 Sep 21.

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

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March 2019

Expanding the phenome and variome of skeletal dysplasia.

Authors:
Sateesh Maddirevula Saud Alsahli Lamees Alhabeeb Nisha Patel Fatema Alzahrani Hanan E Shamseldin Shams Anazi Nour Ewida Hessa S Alsaif Jawahir Y Mohamed Anas M Alazami Niema Ibrahim Firdous Abdulwahab Mais Hashem Mohamed Abouelhoda Dorota Monies Nada Al Tassan Muneera Alshammari Afaf Alsagheir Mohammed Zain Seidahmed Samira Sogati Mona S Aglan Muddathir H Hamad Mustafa A Salih Ahlam A Hamed Nadia Alhashmi Amira Nabil Fatima Alfadli Ghada M H Abdel-Salam Hisham Alkuraya Winnie Ong Peitee W T Keng Abdullah Qasem Aziza M Mushiba Maha S Zaki Mahmoud R Fassad Majid Alfadhel Saji Alexander Yasser Sabr Samia Temtamy Alka V Ekbote Samira Ismail Gamal Ahmed Hosny Ghada A Otaify Khalda Amr Saeed Al Tala Arif O Khan Tamer Rizk Aida Alaqeel Abdulmonem Alsiddiky Ankur Singh Seema Kapoor Amal Alhashem Eissa Faqeih Ranad Shaheen Fowzan S Alkuraya

Genet Med 2018 12 5;20(12):1609-1616. Epub 2018 Apr 5.

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

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December 2018

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Authors:
Lucie Gueneau Richard J Fish Hanan E Shamseldin Norine Voisin Frédéric Tran Mau-Them Egle Preiksaitiene Glen R Monroe Angeline Lai Audrey Putoux Fabienne Allias Qamariya Ambusaidi Laima Ambrozaityte Loreta Cimbalistienė Julien Delafontaine Nicolas Guex Mais Hashem Wesam Kurdi Saumya Shekhar Jamuar Lim J Ying Carine Bonnard Tommaso Pippucci Sylvain Pradervand Bernd Roechert Peter M van Hasselt Michaël Wiederkehr Caroline F Wright Ioannis Xenarios Gijs van Haaften Charles Shaw-Smith Erica M Schindewolf Marguerite Neerman-Arbez Damien Sanlaville Gaëtan Lesca Laurent Guibaud Bruno Reversade Jamel Chelly Vaidutis Kučinskas Fowzan S Alkuraya Alexandre Reymond

Am J Hum Genet 2018 01 28;102(1):116-132. Epub 2017 Dec 28.

Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address:

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January 2018