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1
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Wakil, Salma M. ; Monies, Dorota M. ; Abouelhoda, Mohamed ; Al‐Tassan, Nada ; Al‐Dusery, Haya ; Naim, Ewa A. ; Al‐Younes, Banan ; Shinwari, Jameela ; Al‐Mohanna, Futwan A. ; Meyer, Brian F. ; Al‐Mayouf, Sulaiman

Arthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs
The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs
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The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs

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 Frieling, Helge

Disease markers, 2015-01, Vol.2015, p.542543-8 [Periódico revisado por pares]

United States: Hindawi Publishing Corporation

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3
Homozygous Non-Sense Mutation in Atlastin-1 Gene Caused Pure Hereditary Spastic Paraplegia (P2.236)
Homozygous Non-Sense Mutation in Atlastin-1 Gene Caused Pure Hereditary Spastic Paraplegia (P2.236)
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Homozygous Non-Sense Mutation in Atlastin-1 Gene Caused Pure Hereditary Spastic Paraplegia (P2.236)

Saeed, Bohlega ; Abulaban, Ahmad ; Hagos, Samya ; Qahtani, Aisha ; Wakil, Salma

Neurology, 2015-04, Vol.84 (14_supplement) [Periódico revisado por pares]

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4
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
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A novel APC mutation defines a second locus for Cenani–Lenz syndrome

Patel, Nisha ; Faqeih, Eissa ; Anazi, Shams ; Alfawareh, Mohammad ; Wakil, Salma M ; Colak, Dilek ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.317-321 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
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Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

Shaheen, Ranad ; Al Hashem, Amal ; Alghamdi, Mohammed H ; Seidahmad, Mohammed Zain ; Wakil, Salma M ; Dagriri, Khalid ; Keavney, Bernard ; Goodship, Judith ; Alyousif, Saad ; Al-Habshan, Fahad M ; Alhussein, Khalid ; Almoisheer, Agaadir ; Ibrahim, Niema ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.322-329 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
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A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

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 ; Buchannan, 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

Scientific reports, 2015-05, Vol.5 (1), p.10442-10442, Article 10442 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology, 2015-06, Vol.16 (1), p.134-134, Article 134 [Periódico revisado por pares]

England: BioMed Central

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8
Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population
Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population
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Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population

Tayeb, Hamsa T. ; Bakheet, Dana H. ; Zaza, Khaled ; Wakil, Salma M. ; Dzimiri, Nduna

Journal of pharmacy and pharmacology, 2015-07, Vol.67 (7), p.972-979 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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9
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
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Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

Jan, Abid ; Basit, Sulman ; Wakil, Salma M ; Ramzan, Khushnooda ; Ahmad, Wasim

Journal of dermatological science, 2015-08, Vol.79 (2), p.173-175 [Periódico revisado por pares]

Netherlands: Elsevier Ireland Ltd

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10
Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
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Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

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

Scientific reports, 2015-08, Vol.5 (1), p.12372-12372, Article 12372 [Periódico revisado por pares]

England: Nature Publishing Group

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