A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Por Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Publicado em 2011

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Por Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Publicado em 2014

TLE6 mutation causes the earliest known human embryonic lethality

Por Alazami, Anas M., Awad, Salma M., Coskun, Serdar, Al-Hassan, Saad, Hijazi, Hadia, Abdulwahab, Firdous M., Poizat, Coralie, Alkuraya, Fowzan S.
Publicado no Genome Biol (2015)

The many faces of KIF7

Por Barakeh, Duna, Faqeih, Eissa, Anazi, Shams, S Al-Dosari, Mohammed, Softah, Ameen, Albadr, Fahad, Hassan, Hamdy, Alazami, Anas M, Alkuraya, Fowzan S
Publicado no Hum Genome Var (2015)

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Por Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Publicado em 2009

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Por Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Publicado em 2009

PUS7 Mutations Impair Pseudouridylation in Humans and Cause Intellectual Disability and Microcephaly

Por Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdulsalam, Ghada, Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S
Publicado no Hum Genet (2019)

Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

Por Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah
Publicado no Sci Rep (2018)

Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

Por Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah
Publicado no Sci Rep (2018)

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Por Wakil, Salma M., Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T., Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M.
Publicado no BMC Med Genet (2019)

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

Por Holohan, Brody, Kim, Wanil, Lai, Tsung-Po, Hoshiyama, Hirotoshi, Zhang, Ning, Alazami, Anas M., Wright, Woodring E., Meyn, M. Stephen, Alkuraya, Fowzan S., Shay, Jerry W.
Publicado no BMC Genomics (2016)

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Por Seidahmed Mohammed, Salih Mustafa A, Abdulbasit Omer B, Shaheed Meeralebbae, Al Hussein Khalid, Miqdad Abeer M, Al Rasheed Abdullah K, Alazami Anas M, Alorainy Ibrahim A, Alkuraya Fowzan S
Publicado em 2012-10-01

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Por Seidahmed, Mohammed Zein, Salih, Mustafa A, Abdulbasit, Omer B, Shaheed, Meeralebbae, Al Hussein, Khalid, Miqdad, Abeer M, Al Rasheed, Abdullah K, Alazami, Anas M, Alorainy, Ibrahim A, Alkuraya, Fowzan S
Publicado em 2012

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

Por Aljohani, Amal H., Al-Mousa, Hamoud, Arnaout, Rand, Al-Dhekri, Hasan, Mohammed, Reem, Alsum, Zobaida, Nicolas-Jilwan, Manal, Alrogi, Fayhan, Al-Muhsen, Saleh, Alazami, Anas M., Al-Saud, Bandar
Publicado no J Clin Immunol (2020)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Por Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2015)

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Por Seidahmed, Mohammed Zain, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S.
Publicado no BMC Neurol (2016)

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Por Alazami, Anas M., Al-Helale, Maryam, Alhissi, Safa, Al-Saud, Bandar, Alajlan, Huda, Monies, Dorota, Shah, Zeeshan, Abouelhoda, Mohamed, Arnaout, Rand, Al-Dhekri, Hasan, Al-Numair, Nouf S., Ghebeh, Hazem, Sheikh, Farrukh, Al-Mousa, Hamoud
Publicado no Front Immunol (2018)

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Por Monies, Dorota, Alhindi, Hindi N., Almuhaizea, Mohamed A., Abouelhoda, Mohamed, Alazami, Anas M., Goljan, Ewa, Alyounes, Banan, Jaroudi, Dyala, AlIssa, Abdulelah, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma M., Altassan, Nada A., Meyer, Brian F., Bohlega, Saeed
Publicado no Hum Genomics (2016)

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Por Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.
Publicado em 2008

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Por Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R., McDonald, David, Mata, Carlos P., Modis, Yorgo, Alazami, Anas M., Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F., Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D., Thaventhiran, James E., Engelhardt, Karin R., Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G.C., Lenardo, Michael J.
Publicado no J Exp Med (2019)