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1
Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C
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Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C

Finsterer, Josef ; Wakil, Salma M. ; Laccone, Franco

Journal of clinical neuroscience, 2019-06, Vol.64, p.4-5 [Periódico revisado por pares]

Scotland: Elsevier Ltd

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2
Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders
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Artigo
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Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders

Finsterer, Josef, MD, PhD ; Wakil, Salma, PhD

Pediatric neurology, 2015-10, Vol.53 (4), p.301-308 [Periódico revisado por pares]

United States: Elsevier Inc

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3
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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4
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
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Artigo
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A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

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, Jr, 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 Dubé, Marie-Pierre

PloS one, 2016-09, Vol.11 (9), p.e0162866 [Periódico revisado por pares]

United States: Public Library of Science

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5
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
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Artigo
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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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6
A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs
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Artigo
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A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs

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

Atherosclerosis, 2016-02, Vol.245, p.62-70 [Periódico revisado por pares]

Ireland: Elsevier B.V

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7
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
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Artigo
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Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

May-Wilson, Sebastian ; Sud, Amit ; Law, Philip J. ; Palin, Kimmo ; Tuupanen, Sari ; Gylfe, Alexandra ; Hänninen, Ulrika A. ; Cajuso, Tatiana ; Tanskanen, Tomas ; Kondelin, Johanna ; Kaasinen, Eevi ; Sarin, Antti-Pekka ; Eriksson, Johan G. ; Rissanen, Harri ; Knekt, Paul ; Pukkala, Eero ; Jousilahti, Pekka ; Salomaa, Veikko ; Ripatti, Samuli ; Palotie, Aarno ; Renkonen-Sinisalo, Laura ; Lepistö, Anna ; Böhm, Jan ; Mecklin, Jukka-Pekka ; Al-Tassan, Nada A. ; Palles, Claire ; Farrington, Susan M. ; Timofeeva, Maria N. ; Meyer, Brian F. ; Wakil, Salma M. ; Campbell, Harry ; Smith, Christopher G. ; Idziaszczyk, Shelley ; Maughan, Timothy S. ; Fisher, David ; Kerr, Rachel ; Kerr, David ; Passarelli, Michael N. ; Figueiredo, Jane C. ; Buchanan, Daniel D. ; Win, Aung K. ; Hopper, John L. ; Jenkins, Mark A. ; Lindor, Noralane M. ; Newcomb, Polly A. ; Gallinger, Steven ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Aaltonen, Lauri A. ; Cheadle, Jeremy P. ; Tomlinson, Ian P. ; Dunlop, Malcolm G. ; Houlston, Richard S.

European journal of cancer (1990), 2017-10, Vol.84, p.228-238 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Retraction: 'Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population', by T. Tayeb, Dana H. Bakheet, Khaled Zaza, Salma M. Wakil and Nduna Dzimiri
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Artigo
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Retraction: 'Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population', by T. Tayeb, Dana H. Bakheet, Khaled Zaza, Salma M. Wakil and Nduna Dzimiri

Journal of pharmacy and pharmacology, 2016-03, Vol.68 (3), p.421-421 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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9
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Artigo
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

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

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
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Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Rodriguez‐Broadbent, Henry ; Law, Philip J. ; Sud, Amit ; Palin, Kimmo ; Tuupanen, Sari ; Gylfe, Alexandra ; Hänninen, Ulrika A. ; Cajuso, Tatiana ; Tanskanen, Tomas ; Kondelin, Johanna ; Kaasinen, Eevi ; Sarin, Antti‐Pekka ; Ripatti, Samuli ; Eriksson, Johan G. ; Rissanen, Harri ; Knekt, Paul ; Pukkala, Eero ; Jousilahti, Pekka ; Salomaa, Veikko ; Palotie, Aarno ; Renkonen‐Sinisalo, Laura ; Lepistö, Anna ; Böhm, Jan ; Mecklin, 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 ; Passarelli, Michael N. ; Figueiredo, Jane C. ; Buchanan, Daniel D. ; Win, Aung K. ; Hopper, John L. ; Jenkins, Mark A. ; Lindor, Noralane M. ; Newcomb, Polly A. ; Gallinger, Steven ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Aaltonen, Lauri A. ; Cheadle, Jeremy P. ; Tomlinson, Ian P. ; Dunlop, Malcolm G. ; Houlston, Richard S.

International journal of cancer, 2017-06, Vol.140 (12), p.2701-2708 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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