Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients

Por Adi, Ahmad, Bin Abbas, Bassam, Al Hamed, Mohamed, Al Tassan, Nada, Bakheet, Dana
Publicado no Genes (Basel) (2015)

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)

Por Khan, Arif O., Shinwari, Jameela, Abu Dhaim, Nada, Khalil, Dania, Al Sharif, Latifa, Al Tassan, Nada
Publicado em 2011

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome

Por Khan, Arif O., Shinwari, Jameela, Al Sharif, Latifa, Khalil, Dania, Al-Gehedan, Saeed, Al Tassan, Nada A.
Publicado em 2011

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

Por Bohlega, Saeed A, Shinwari, Jameela M, Al Sharif, Latifa J, Khalil, Dania S, Alkhairallah, Thamer S, Al Tassan, Nada A
Publicado em 2011

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families

Por Khan, Arif O., Shinwari, Jameela, Omar, Aisha, Al-Sharif, Latifa, Khalil, Dania S., Alanazi, Mohammed, Al-Amri, Abdullah, Al Tassan, Nada
Publicado em 2011

Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

Por Shinwari, Jameela M.A., Khan, Arif, Awad, Salma, Shinwari, Zakia, Alaiya, Ayodele, Alanazi, Mohamad, Tahir, Asma, Poizat, Coralie, Al Tassan, Nada
Publicado no Am J Hum Genet (2015)

Synergistic divergence: a distinct ocular motility dysinnervation pattern

Por Oystreck, Darren T., Khan, Arif O., Vila-Coro, Antonio Aguirre, Oworu, Olugbemisola, Al-Tassan, Nada, Chan, Wai-Man, Engle, Elizabeth C, Bosley, Thomas M.
Publicado em 2009

TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution

Por AL-QASEM, ABEER J., TOULIMAT, MOHAMED, ELDALI, ABDELMONEIM M., TULBAH, ASMA, AL-YOUSEF, NUJOUD, AL-DAIHAN, SOOAD K., AL-TASSAN, NADA, AL-TWEIGERI, TAHER, ABOUSSEKHRA, ABDELILAH
Publicado em 2011

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders

Por Muiya, Nzioka P, Wakil, Salma M, Tahir, Asma I, Hagos, Samya, Najai, Mohammed, Gueco, Daisy, Al-Tassan, Nada, Andres, Editha, Mazher, Nejat, Meyer, Brian F, Dzimiri, Nduna
Publicado em 2013

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

Por Shinwari, Jameela M.A., Al Yemni, Eman A.A., Alnaemi, Faten M., Abebe, Dejene, Al-Abdulaziz, Basma S., Al Mubarak, Bashayer R., Ghaziuddin, Mohammad, Al Tassan, Nada A.
Publicado no Psychiatr Genet (2017)

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

Por Morales, Jose, Al-Sharif, Latifa, Khalil, Dania S., Shinwari, Jameela M.A., Bavi, Prashant, Al-Mahrouqi, Rahima A., Al-Rajhi, Ali, Alkuraya, Fowzan S., Meyer, Brian F., Al Tassan, Nada
Publicado em 2009

A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24

Por Wakil, Salma M., Muiya, Nzioka P., Tahir, Asma I., Al-Najai, Mohammed, Baz, Batoul, Andres, Editha, Mazhar, Nejat, Al Tassan, Nada, Alshahid, Maie, Meyer, Brian F., Dzimiri, Nduna
Publicado em 2014

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Por Bohlega, Saeed A., Al-Mubarak, Bashayer R., Alyemni, Eman A., Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E., Khalil, Dania S., Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I., Al Tassan, Nada A.
Publicado no BMC Res Notes (2016)

Parkinson’s Disease in Saudi Patients: A Genetic Study

Por Al-Mubarak, Bashayer R., Bohlega, Saeed A., Alkhairallah, Thamer S., Magrashi, Amna I., AlTurki, Maha I., Khalil, Dania S., AlAbdulaziz, Basma S., Abou Al-Shaar, Hussam, Mustafa, Abeer E., Alyemni, Eman A., Alsaffar, Bashayer A., Tahir, Asma I., Al Tassan, Nada A.
Publicado no PLoS One (2015)

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Por Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
Publicado no Mol Genet Metab Rep (2017)

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Por Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Publicado em 2013

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

Por Al-Mubarak, Bashayer, Abouelhoda, Mohamed, Omar, Aisha, AlDhalaan, Hesham, Aldosari, Mohammed, Nester, Michael, Alshamrani, Hussain. A., El-Kalioby, Mohamed, Goljan, Ewa, Albar, Renad, Subhani, Shazia, Tahir, Asma, Asfahani, Sultana, Eskandrani, Alaa, Almusaiab, Ahmed, Magrashi, Amna, Shinwari, Jameela, Monies, Dorota, Al Tassan, Nada
Publicado no Sci Rep (2017)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Por Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Al Tassan, Nada, Katsanis, Nicholas, Crowley, William F.
Publicado no Proc Natl Acad Sci U S A (2014)

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Por Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinnersley, Ben, Campbell, Harry, Martin, Lynn, Smith, Christopher G., Idziaszczyk, Shelley, Barclay, Ella, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchannan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Dunlop, Malcolm G., Tomlinson, Ian P., Cheadle, Jeremy P., Houlston, Richard S.
Publicado no Sci Rep (2015)

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Por Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinnersley, Ben, Campbell, Harry, Martin, Lynn, Smith, Christopher G., Idziaszczyk, Shelley, Barclay, Ella, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Dunlop, Malcolm G., Tomlinson, Ian P., Cheadle, Jeremy P., Houlston, Richard S.
Publicado no Sci Rep (2015)