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

by Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari
Published 2020-02-01

Population structure of indigenous inhabitants of Arabia.

by Katsuhiko Mineta, Kosuke Goto, Takashi Gojobori, Fowzan S Alkuraya
Published 2021-01-01

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

by Ahmed B Alsalem, Anason S Halees, Shamsa Anazi, Shomoukh Alshamekh, Fowzan S Alkuraya
Published 2013-01-01

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

by Jenna M. Lentini, Hessa S. Alsaif, Eissa Faqeih, Fowzan S. Alkuraya, Dragony Fu
Published 2020-05-01

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene

by Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema Alzahrani, Fowzan S. Alkuraya, Antonio Adamo
Published 2021-01-01

Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association

by Ahmed Al Sarkhy, Saeed Hassan, Mona Alasmi, Asaad Muhammed Assiri, Fowzan S. Alkuraya
Published 2014-01-01

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutati...

by Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD
Published 2021-08-01

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

by Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya
Published 2021-05-01

The natural history of infantile neuroaxonal dystrophy

by Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S. Alkuraya
Published 2020-05-01

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

by Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M. Alazami, Woodring E. Wright, M. Stephen Meyn, Fowzan S. Alkuraya, Jerry W. Shay
Published 2016-10-01

Natural history of non-lethal Raine syndrome during childhood

by Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Published 2020-04-01

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

by 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
Published 2017-07-01

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

by Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Published 2020-06-01

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

by 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
Published 2021-07-01

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

by Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, 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, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya, Fowzan S. Alkuraya
Published 2020-12-01

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

by 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
Published 2021-02-01

Clonal Evolution and Timing of Metastatic Colorectal Cancer

by Sarah Siraj, Tariq Masoodi, Abdul K. Siraj, Saud Azam, Zeeshan Qadri, Saeeda O. Ahmed, Wafaa N. AlBalawy, Khadija A. Al-Obaisi, Sandeep K. Parvathareddy, Hadeel M. AlManea, Hussah F. AlHussaini, Alaa Abduljabbar, Samar Alhomoud, Fouad H. Al-Dayel, Fowzan S. Alkuraya, Khawla S. Al-Kuraya
Published 2020-10-01

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

by M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Published 2014-08-01

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Published 2017-01-01

Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.

by Yumi Mizuno, Yuichi Ninomiya, Yutaka Nakachi, Mioko Iseki, Hiroyasu Iwasa, Masumi Akita, Tohru Tsukui, Nobuyuki Shimozawa, Chizuru Ito, Kiyotaka Toshimori, Megumi Nishimukai, Hiroshi Hara, Ryouta Maeba, Tomoki Okazaki, Ali Nasser Ali Alodaib, Mohammed Al Amoudi, Minnie Jacob, Fowzan S Alkuraya, Yasushi Horai, Mitsuhiro Watanabe, Hiromi Motegi, Shigeharu Wakana, Tetsuo Noda, Igor V Kurochkin, Yosuke Mizuno, Christian Schönbach, Yasushi Okazaki
Published 2013-01-01