Salma M Wakil

Salma M Wakil

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Salma M Wakil

Salma M Wakil

Publications by authors named "Salma M Wakil"

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IL-8 dedifferentiates primary human luminal cells to multipotent stem cells.

Mol Cell Biol 2020 Feb 3. Epub 2020 Feb 3.

Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre; MBC#03, Riyadh 11211, Saudi Arabia

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http://dx.doi.org/10.1128/MCB.00508-19DOI Listing
February 2020

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia.

OMICS 2020 Jan 19;24(1):16-28. Epub 2019 Dec 19.

Departments Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1089/omi.2019.0165DOI Listing
January 2020

Associations of autozygosity with a broad range of human phenotypes.

Authors:
David W Clark Yukinori Okada Kristjan H S Moore Dan Mason Nicola Pirastu Ilaria Gandin Hannele Mattsson Catriona L K Barnes Kuang Lin Jing Hua Zhao Patrick Deelen Rebecca Rohde Claudia Schurmann Xiuqing Guo Franco Giulianini Weihua Zhang Carolina Medina-Gomez Robert Karlsson Yanchun Bao Traci M Bartz Clemens Baumbach Ginevra Biino Matthew J Bixley Marco Brumat Jin-Fang Chai Tanguy Corre Diana L Cousminer Annelot M Dekker David A Eccles Kristel R van Eijk Christian Fuchsberger He Gao Marine Germain Scott D Gordon Hugoline G de Haan Sarah E Harris Edith Hofer Alicia Huerta-Chagoya Catherine Igartua Iris E Jansen Yucheng Jia Tim Kacprowski Torgny Karlsson Marcus E Kleber Shengchao Alfred Li Ruifang Li-Gao Anubha Mahajan Koichi Matsuda Karina Meidtner Weihua Meng May E Montasser Peter J van der Most Matthias Munz Teresa Nutile Teemu Palviainen Gauri Prasad Rashmi B Prasad Tallapragada Divya Sri Priyanka Federica Rizzi Erika Salvi Bishwa R Sapkota Daniel Shriner Line Skotte Melissa C Smart Albert Vernon Smith Ashley van der Spek Cassandra N Spracklen Rona J Strawbridge Salman M Tajuddin Stella Trompet Constance Turman Niek Verweij Clara Viberti Lihua Wang Helen R Warren Robyn E Wootton Lisa R Yanek Jie Yao Noha A Yousri Wei Zhao Adebowale A Adeyemo Saima Afaq Carlos Alberto Aguilar-Salinas Masato Akiyama Matthew L Albert Matthew A Allison Maris Alver Tin Aung Fereidoun Azizi Amy R Bentley Heiner Boeing Eric Boerwinkle Judith B Borja Gert J de Borst Erwin P Bottinger Linda Broer Harry Campbell Stephen Chanock Miao-Li Chee Guanjie Chen Yii-Der I Chen Zhengming Chen Yen-Feng Chiu Massimiliano Cocca Francis S Collins Maria Pina Concas Janie Corley Giovanni Cugliari Rob M van Dam Anna Damulina Maryam S Daneshpour Felix R Day Graciela E Delgado Klodian Dhana Alexander S F Doney Marcus Dörr Ayo P Doumatey Nduna Dzimiri S Sunna Ebenesersdóttir Joshua Elliott Paul Elliott Ralf Ewert Janine F Felix Krista Fischer Barry I Freedman Giorgia Girotto Anuj Goel Martin Gögele Mark O Goodarzi Mariaelisa Graff Einat Granot-Hershkovitz Francine Grodstein Simonetta Guarrera Daniel F Gudbjartsson Kamran Guity Bjarni Gunnarsson Yu Guo Saskia P Hagenaars Christopher A Haiman Avner Halevy Tamara B Harris Mehdi Hedayati David A van Heel Makoto Hirata Imo Höfer Chao Agnes Hsiung Jinyan Huang Yi-Jen Hung M Arfan Ikram Anuradha Jagadeesan Pekka Jousilahti Yoichiro Kamatani Masahiro Kanai Nicola D Kerrison Thorsten Kessler Kay-Tee Khaw Chiea Chuen Khor Dominique P V de Kleijn Woon-Puay Koh Ivana Kolcic Peter Kraft Bernhard K Krämer Zoltán Kutalik Johanna Kuusisto Claudia Langenberg Lenore J Launer Deborah A Lawlor I-Te Lee Wen-Jane Lee Markus M Lerch Liming Li Jianjun Liu Marie Loh Stephanie J London Stephanie Loomis Yingchang Lu Jian'an Luan Reedik Mägi Ani W Manichaikul Paolo Manunta Gísli Másson Nana Matoba Xue W Mei Christa Meisinger Thomas Meitinger Massimo Mezzavilla Lili Milani Iona Y Millwood Yukihide Momozawa Amy Moore Pierre-Emmanuel Morange Hortensia Moreno-Macías Trevor A Mori Alanna C Morrison Taulant Muka Yoshinori Murakami Alison D Murray Renée de Mutsert Josyf C Mychaleckyj Mike A Nalls Matthias Nauck Matt J Neville Ilja M Nolte Ken K Ong Lorena Orozco Sandosh Padmanabhan Gunnar Pálsson James S Pankow Cristian Pattaro Alison Pattie Ozren Polasek Neil Poulter Peter P Pramstaller Lluis Quintana-Murci Katri Räikkönen Sarju Ralhan Dabeeru C Rao Wouter van Rheenen Stephen S Rich Paul M Ridker Cornelius A Rietveld Antonietta Robino Frank J A van Rooij Daniela Ruggiero Yasaman Saba Charumathi Sabanayagam Maria Sabater-Lleal Cinzia Felicita Sala Veikko Salomaa Kevin Sandow Helena Schmidt Laura J Scott William R Scott Bahareh Sedaghati-Khayat Bengt Sennblad Jessica van Setten Peter J Sever Wayne H-H Sheu Yuan Shi Smeeta Shrestha Sharvari Rahul Shukla Jon K Sigurdsson Timo Tonis Sikka Jai Rup Singh Blair H Smith Alena Stančáková Alice Stanton John M Starr Lilja Stefansdottir Leon Straker Patrick Sulem Gardar Sveinbjornsson Morris A Swertz Adele M Taylor Kent D Taylor Natalie Terzikhan Yih-Chung Tham Gudmar Thorleifsson Unnur Thorsteinsdottir Annika Tillander Russell P Tracy Teresa Tusié-Luna Ioanna Tzoulaki Simona Vaccargiu Jagadish Vangipurapu Jan H Veldink Veronique Vitart Uwe Völker Eero Vuoksimaa Salma M Wakil Melanie Waldenberger Gurpreet S Wander Ya Xing Wang Nicholas J Wareham Sarah Wild Chittaranjan S Yajnik Jian-Min Yuan Lingyao Zeng Liang Zhang Jie Zhou Najaf Amin Folkert W Asselbergs Stephan J L Bakker Diane M Becker Benjamin Lehne David A Bennett Leonard H van den Berg Sonja I Berndt Dwaipayan Bharadwaj Lawrence F Bielak Murielle Bochud Mike Boehnke Claude Bouchard Jonathan P Bradfield Jennifer A Brody Archie Campbell Shai Carmi Mark J Caulfield David Cesarini John C Chambers Giriraj Ratan Chandak Ching-Yu Cheng Marina Ciullo Marilyn Cornelis Daniele Cusi George Davey Smith Ian J Deary Rajkumar Dorajoo Cornelia M van Duijn David Ellinghaus Jeanette Erdmann Johan G Eriksson Evangelos Evangelou Michele K Evans Jessica D Faul Bjarke Feenstra Mary Feitosa Sylvain Foisy Andre Franke Yechiel Friedlander Paolo Gasparini Christian Gieger Clicerio Gonzalez Philippe Goyette Struan F A Grant Lyn R Griffiths Leif Groop Vilmundur Gudnason Ulf Gyllensten Hakon Hakonarson Anders Hamsten Pim van der Harst Chew-Kiat Heng Andrew A Hicks Hagit Hochner Heikki Huikuri Steven C Hunt Vincent W V Jaddoe Philip L De Jager Magnus Johannesson Åsa Johansson Jost B Jonas J Wouter Jukema Juhani Junttila Jaakko Kaprio Sharon L R Kardia Fredrik Karpe Meena Kumari Markku Laakso Sander W van der Laan Jari Lahti Matthias Laudes Rodney A Lea Wolfgang Lieb Thomas Lumley Nicholas G Martin Winfried März Giuseppe Matullo Mark I McCarthy Sarah E Medland Tony R Merriman Andres Metspalu Brian F Meyer Karen L Mohlke Grant W Montgomery Dennis Mook-Kanamori Patricia B Munroe Kari E North Dale R Nyholt Jeffery R O'connell Carole Ober Albertine J Oldehinkel Walter Palmas Colin Palmer Gerard G Pasterkamp Etienne Patin Craig E Pennell Louis Perusse Patricia A Peyser Mario Pirastu Tinca J C Polderman David J Porteous Danielle Posthuma Bruce M Psaty John D Rioux Fernando Rivadeneira Charles Rotimi Jerome I Rotter Igor Rudan Hester M Den Ruijter Dharambir K Sanghera Naveed Sattar Reinhold Schmidt Matthias B Schulze Heribert Schunkert Robert A Scott Alan R Shuldiner Xueling Sim Neil Small Jennifer A Smith Nona Sotoodehnia E-Shyong Tai Alexander Teumer Nicholas J Timpson Daniela Toniolo David-Alexandre Tregouet Tiinamaija Tuomi Peter Vollenweider Carol A Wang David R Weir John B Whitfield Cisca Wijmenga Tien-Yin Wong John Wright Jingyun Yang Lei Yu Babette S Zemel Alan B Zonderman Markus Perola Patrik K E Magnusson André G Uitterlinden Jaspal S Kooner Daniel I Chasman Ruth J F Loos Nora Franceschini Lude Franke Chris S Haley Caroline Hayward Robin G Walters John R B Perry Tōnu Esko Agnar Helgason Kari Stefansson Peter K Joshi Michiaki Kubo James F Wilson

Nat Commun 2019 10 31;10(1):4957. Epub 2019 Oct 31.

Centre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, EH8 9AG, Scotland.

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http://dx.doi.org/10.1038/s41467-019-12283-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823371PMC
October 2019

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Acta Neurol Belg 2019 Sep 8;119(3):299-303. Epub 2019 Jun 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s13760-019-01158-8DOI Listing
September 2019

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

BMC Med Genet 2019 07 4;20(1):119. Epub 2019 Jul 4.

Department of Genetics, Research Centre, King Faisal Specialist Hospital & Research Centre, MBC-03, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12881-019-0851-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610916PMC
July 2019

A novel mutation in a family with expanded syndrome of piebaldism.

JAAD Case Rep 2019 Jul 13;5(7):627-631. Epub 2019 Jul 13.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jdcr.2019.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630042PMC
July 2019

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

J Clin Neurosci 2019 Jun 5;64:4-5. Epub 2019 Apr 5.

Institute of Medical Genetics, Head of the Section "Clinical Genetics", Medical School of Vienna, Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09675868193038
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http://dx.doi.org/10.1016/j.jocn.2019.03.067DOI Listing
June 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

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

Physiol Genomics 2018 04 16;50(4):296-297. Epub 2018 Feb 16.

Department of Clinical Epidemiology, Leiden University Medical Center , Leiden , the Netherlands.

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http://dx.doi.org/10.1152/physiolgenomics.00100.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966803PMC
April 2018

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Am J Hum Genet 2017 May;100(5):831-836

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420357PMC
May 2017

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Int J Dermatol 2016 Jun 7;55(6):673-9. Epub 2016 Apr 7.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ijd.13279DOI Listing
June 2016

Novel copy number variants and major limb reduction malformation: Report of three cases.

Am J Med Genet A 2016 May 8;170A(5):1245-50. Epub 2016 Jan 8.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37550DOI Listing
May 2016

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

Am J Hum Genet 2016 Apr 24;98(4):643-52. Epub 2016 Mar 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833216PMC
April 2016

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

Atherosclerosis 2016 Feb 22;245:62-70. Epub 2015 Nov 22.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.11.019DOI Listing
February 2016

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

Arch Dermatol Res 2015 Nov 7;307(9):793-801. Epub 2015 Jul 7.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00403-015-1590-yDOI Listing
November 2015

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

J Dermatol Sci 2015 Aug 6;79(2):173-5. Epub 2015 May 6.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.04.012DOI Listing
August 2015

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

J Pharm Pharmacol 2015 Jul 14;67(7):972-9. Epub 2015 Feb 14.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/jphp.12391DOI Listing
July 2015

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

J Med Genet 2015 May 12;52(5):317-21. Epub 2015 Feb 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://jmg.bmj.com/content/early/2015/02/12/jmedgenet-2014-1
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http://dx.doi.org/10.1136/jmedgenet-2014-102850DOI Listing
May 2015

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

J Med Genet 2015 May 23;52(5):322-9. Epub 2015 Feb 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2015-102992DOI Listing
May 2015

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Dis Markers 2014 26;2014:291419. Epub 2014 Jun 26.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia ; Cardiovascular and Pharmacogenomics Unit, MBC-03-05, Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1155/2014/291419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098619PMC
April 2015

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Arthritis Rheumatol 2015 Jan;67(1):288-95

King Faisal Specialist Hospital and Research Centre, and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/art.38877DOI Listing
January 2015

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

Neuromuscul Disord 2014 Apr 4;24(4):353-9. Epub 2014 Jan 4.

Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Saudi Arabia; Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

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http://dx.doi.org/10.1016/j.nmd.2013.12.010DOI Listing
April 2014

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Gene 2014 Feb 4;536(1):217-20. Epub 2013 Dec 4.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.11.043DOI Listing
February 2014

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Hum Genomics 2013 Dec 12;7:25. Epub 2013 Dec 12.

Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1479-7364-7-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899629PMC
December 2013

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

Hum Genomics 2013 Jun 5;7:15. Epub 2013 Jun 5.

King Faisal Heart Institute, MBC-16, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1479-7364-7-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681549PMC
June 2013

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.

Eur J Med Genet 2013 Jan 18;56(1):43-5. Epub 2012 Oct 18.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120028
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http://dx.doi.org/10.1016/j.ejmg.2012.10.003DOI Listing
January 2013

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Neurosciences (Riyadh) 2012 Jan;17(1):48-52

Departments of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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January 2012

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.

Diabetes Metab Res Rev 2008 Feb;24(2):137-40

Arabian Diagnostic Laboratory (ADL), Research Centre, King Faisal Specialist Hospital and Research Centre, and Diabetes Center, King Abdulaziz University Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/dmrr.777DOI Listing
February 2008

Vertical transmission of hepatitis B virus despite maternal lamivudine therapy.

Lancet 2002 Apr;359(9316):1488-9

Department of Gastroenterology, G B Pant Hospital, New Delhi, India.

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http://dx.doi.org/10.1016/S0140-6736(02)08425-8DOI Listing
April 2002