Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene

Por Finsterer, Josef, Wakil, Salma Majid, Laccone, Franco
Publicado no Ann Indian Acad Neurol (2017)

Involvement of ATP-binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease

Por ZARGAR, SEEMA, WAKIL, SALMA, MOBEIREK, ABDUELAH F., AL-JAFARI, ABDULAZIZ A.
Publicado em 2013

Replication of Type 2 diabetes-associated variants in a Saudi Arabian population

Por Li-Gao, Ruifang, Wakil, Salma M., Meyer, Brian F., Dzimiri, Nduna, Mook-Kanamori, Dennis O.
Publicado no Physiol Genomics (2018)

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Por Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen
Publicado em 2009

The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs

Por Wakil, Salma M., Nguyen, Cao, Muiya, Nzioka P., Andres, Editha, Lykowska-Tarnowska, Agnieszka, Baz, Batoul, Tahir, Asma I., Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna
Publicado no Dis Markers (2015)

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3

Por Alshahid, Maie, Wakil, Salma M, Al-Najai, Mohammed, Muiya, Nzioka P, Elhawari, Samar, Gueco, Daisy, Andres, Editha, Hagos, Samia, Mazhar, Nejat, Meyer, Brian F, Dzimiri, Nduna
Publicado em 2013

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

Data on common variants associated with coronary artery disease/myocardial infarction in ethnic Arabs

Por Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Mehta, Munish, Andres, Editha, Mazhar, Nejat, Baz, Batoul, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna
Publicado no Data Brief (2016)

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

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Por Al-Hassnan, Zuhair N., Shinwari, Zarghuna MA., Wakil, Salma M., Tulbah, Sahar, Mohammed, Shamayel, Rahbeeni, Zuhair, Alghamdi, Mohammed, Rababh, Monther, Colak, Dilek, Kaya, Namik, Al-Fayyadh, Majid, Alburaiki, Jehad
Publicado no BMC Med Genet (2016)

Identification of a novel genetic locus underlying tremor and dystonia

Por Monies, Dorota, Al-Shaar, Hussam Abou, Goljan, Ewa A., Al-Younes, Banan, Al-Breacan, Muna Monther Abdullah, Al-Saif, Maher Mohammed, Wakil, Salma M., Meyer, Brian F., Khabar, Khalid S. A., Bohlega, Saeed
Publicado no Hum Genomics (2017)

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Por Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M., Colak, Dilek, Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2017)

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Por Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M., Abouelhoda, Mohamed, Colak, Dilek, Murray, Stephen A., Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2016)

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)

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Por Al-Hassnan, Zuhair N., Albawardi, Waad, Almutairi, Faten, AlMass, Rawan, AlBakheet, Albandary, Mustafa, Osama M., AlQuait, Laila, Shinwari, Zarghuna M. A., Wakil, Salma, Salih, Mustafa A., Al-Fayyadh, Majid, Hassan, Saeed M., Aljoufan, Mansour, Al-Nakhli, Osima, Levy, Brynn, AlMaarik, Balsam, Al-Hakami, Hana A., Alsagob, Maysoon, Colak, Dilek, Kaya, Namik
Publicado no Mol Cytogenet (2018)

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)

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Por Mizzi, Clint, Dalabira, Eleni, Kumuthini, Judit, Dzimiri, Nduna, Balogh, Istvan, Başak, Nazli, Böhm, Ruwen, Borg, Joseph, Borgiani, Paola, Bozina, Nada, Bruckmueller, Henrike, Burzynska, Beata, Carracedo, Angel, Cascorbi, Ingolf, Deltas, Constantinos, Dolzan, Vita, Fenech, Anthony, Grech, Godfrey, Kasiulevicius, Vytautas, Kádaši, Ľudevít, Kučinskas, Vaidutis, Khusnutdinova, Elza, Loukas, Yiannis L., Macek, Milan, Makukh, Halyna, Mathijssen, Ron, Mitropoulos, Konstantinos, Mitropoulou, Christina, Novelli, Giuseppe, Papantoni, Ioanna, Pavlovic, Sonja, Saglio, Giuseppe, Setric, Jadranka, Stojiljkovic, Maja, Stubbs, Andrew P., Squassina, Alessio, Torres, Maria, Turnovec, Marek, van Schaik, Ron H., Voskarides, Konstantinos, Wakil, Salma M., Werk, Anneke, del Zompo, Maria, Zukic, Branka, Katsila, Theodora, Lee, Ming Ta Michael, Motsinger-Rief, Alison, Mc Leod, Howard L., van der Spek, Peter J., Patrinos, George P.
Publicado no PLoS One (2016)

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Por Mizzi, Clint, Dalabira, Eleni, Kumuthini, Judit, Dzimiri, Nduna, Balogh, Istvan, Başak, Nazli, Böhm, Ruwen, Borg, Joseph, Borgiani, Paola, Bozina, Nada, Bruckmueller, Henrike, Burzynska, Beata, Carracedo, Angel, Cascorbi, Ingolf, Deltas, Constantinos, Dolzan, Vita, Fenech, Anthony, Grech, Godfrey, Kasiulevicius, Vytautas, Kádaši, Ľudevít, Kučinskas, Vaidutis, Khusnutdinova, Elza, Loukas, Yiannis L., Macek, Milan, Makukh, Halyna, Mathijssen, Ron, Mitropoulos, Konstantinos, Mitropoulou, Christina, Novelli, Giuseppe, Papantoni, Ioanna, Pavlovic, Sonja, Saglio, Giuseppe, Sertić, Jadranka, Stojiljkovic, Maja, Stubbs, Andrew P., Squassina, Alessio, Torres, Maria, Turnovec, Marek, van Schaik, Ron H., Voskarides, Konstantinos, Wakil, Salma M., Werk, Anneke, del Zompo, Maria, Zukic, Branka, Katsila, Theodora, Lee, Ming Ta Michael, Motsinger-Rief, Alison, Mc Leod, Howard L., van der Spek, Peter J., Patrinos, George P.
Publicado no PLoS One (2017)

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Por Orlando, Giulia, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Aaltonen, Lauri A., Houlston, Richard S.
Publicado no Hum Mol Genet (2016)