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

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.

American journal of human genetics, 2016-04, Vol.98 (4), p.643-652 [Periódico revisado por pares]

United States: Elsevier Inc

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2
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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3
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

Afzal, Sibtain ; Ramzan, Khushnooda ; Ullah, Sajjad ; Wakil, Salma M ; Jamal, Arshad ; Basit, Sulman ; Waqar, Ahmed Bilal

BMC medical genetics, 2020-01, Vol.21 (1), p.20-20, Article 20 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
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Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Jarvis, David ; Mitchell, Jonathan S ; 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 ; Meklin, Jukka-Pekka ; Al-Tassan, Nada A ; Palles, Claire ; Martin, Lynn ; Barclay, Ella ; Farrington, Susan M ; 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 ; Win, Aung K ; Hopper, John L ; Jenkins, Mark A ; Lindor, Noralane M ; Newcomb, Polly A ; Gallinger, Steve ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Taipale, Jussi ; Aaltonen, Lauri A ; Cheadle, Jeremy P ; Dunlop, Malcolm G ; Tomlinson, Ian P ; Houlston, Richard S

British journal of cancer, 2016-07, Vol.115 (2), p.266-272 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer
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Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer

Gray, Victoria ; Briggs, Sarah ; Palles, Claire ; Jaeger, Emma ; Iveson, Timothy ; Kerr, Rachel ; Saunders, Mark P ; Paul, James ; Harkin, Andrea ; McQueen, John ; Summers, Matthew G ; Johnstone, Elaine ; Wang, Haitao ; Gatcombe, Laura ; Maughan, Timothy S ; Kaplan, Richard ; Escott-Price, Valentina ; Al-Tassan, Nada A ; Meyer, Brian F ; Wakil, Salma M ; Houlston, Richard S ; Cheadle, Jeremy P ; Tomlinson, Ian ; Church, David N

JNCI : Journal of the National Cancer Institute, 2019-08, Vol.111 (8), p.828-836 [Periódico revisado por pares]

United States: Oxford University Press

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6
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
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A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

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

Archives of Dermatological Research, 2015-11, Vol.307 (9), p.793-801 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families
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Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families

Ahmad, Farooq ; Ali, Raja Hussain ; Muhammad, Dost ; Nasir, Abdul ; Umair, Muhammad ; Wakil, Salma M. ; Ramzan, Khushnooda ; Basit, Sulman ; Ahmad, Wasim

EJD. European journal of dermatology, 2016-11, Vol.26 (6), p.610-612 [Periódico revisado por pares]

Paris: John Libbey Eurotext

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8
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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9
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

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

BMC medical genetics, 2016-01, Vol.17 (1), p.3-3, Article 3 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Beneficial effects of lamivudine in hepatitis B virus-related decompensated cirrhosis
Beneficial effects of lamivudine in hepatitis B virus-related decompensated cirrhosis
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Beneficial effects of lamivudine in hepatitis B virus-related decompensated cirrhosis

KAPOOR, D ; GUPTAN, R. C ; WAKIL, S. M ; KAZIM, S. N ; KAUL, R ; AGARWAL, S. R ; RAISUDDIN, S ; HASNAIN, S. E ; SARIN, S. K

Journal of hepatology, 2000-08, Vol.33 (2), p.308-312 [Periódico revisado por pares]

Oxford: Elsevier

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