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1
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
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
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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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3
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
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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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
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
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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7
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
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Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

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 ; Win, Aung Ko ; 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

Human molecular genetics, 2016-06, Vol.25 (11), p.2349-2359 [Periódico revisado por pares]

England: Oxford University Press

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8
Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
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Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci

Tanskanen, Tomas ; van den Berg, Linda ; Välimäki, Niko ; Aavikko, Mervi ; Ness‐Jensen, Eivind ; Hveem, Kristian ; Wettergren, Yvonne ; Bexe Lindskog, Elinor ; Tõnisson, Neeme ; Metspalu, Andres ; Silander, Kaisa ; Orlando, Giulia ; Law, Philip J. ; Tuupanen, Sari ; Gylfe, Alexandra E. ; Hänninen, Ulrika A. ; Cajuso, Tatiana ; Kondelin, Johanna ; Sarin, Antti‐Pekka ; 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 M. ; Timofeeva, Maria N. ; Meyer, Brian F. ; Wakil, Salma M. ; Campbell, Harry ; Smith, Christopher G. ; Idziaszczyk, Shelley ; Maughan, Tim S. ; Kaplan, Richard ; Kerr, Rachel ; Kerr, David ; Buchanan, Daniel D. ; Win, Aung K. ; Hopper, John ; Jenkins, Mark A. ; Newcomb, Polly A. ; Gallinger, Steve ; Conti, David ; Schumacher, Fredrick R. ; Casey, Graham ; Cheadle, Jeremy P. ; Dunlop, Malcolm G. ; Tomlinson, Ian P. ; Houlston, Richard S. ; Palin, Kimmo ; Aaltonen, Lauri A.

International journal of cancer, 2018-02, Vol.142 (3), p.540-546 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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

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 Letizia, Claudio

Disease markers, 2014-01, Vol.2014, p.291419-10 [Periódico revisado por pares]

United States: Hindawi Publishing Corporation

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