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S. Wakil · SciRah

Researcher profile · Semantic Scholar

S. Wakil

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S. Wakil — researcher profile on SciRah

h-index: 29
Works: 107
Citations: 2,897

Most-cited papers

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S. Anazi, S. Maddirevula, E. Faqeih, H. Alsedairy +44 more
2017Molecular Psychiatry233 citations
Semantic Scholar
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
S. Wakil, D. Monies, M. Abouelhoda, N. Al-Tassan +7 more
2015Arthritis & Rheumatology136 citations
Semantic Scholar
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
N. Al-Tassan, N. Whiffin, Fay J. Hosking, C. Palles +31 more
2015Scientific Reports124 citations Open access
Semantic Scholar
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
C. Mizzi, Eleni Dalabira, Judit Kumuthini, N. Dzimiri +46 more
2016PLoS ONE117 citations Open access
Semantic Scholar
Associations of autozygosity with a broad range of human phenotypes
D. Clark, Y. Okada, K. Moore, D. Mason +432 more
2019Nature Communications115 citations Open access
Semantic Scholar
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
H. Al-Mousa, M. Abouelhoda, D. Monies, N. Al-Tassan +32 more
2016Journal of Allergy and Clinical Immunology115 citations
Semantic Scholar
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
H. Rodriguez-Broadbent, P. Law, A. Sud, Kimmo Palin +52 more
2017International Journal of Cancer95 citations Open access
Semantic Scholar
Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients
Z. Alsum, A. Hawwari, O. Alsmadi, Safaa Al-Hissi +11 more
2012Journal of Clinical Immunology85 citations
Semantic Scholar
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
R. Shaheen, S. Anazi, T. Ben-Omran, M. Seidahmed +12 more
2016American Journal of Human Genetics68 citations Open access
Semantic Scholar
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
D. Jarvis, J. Mitchell, P. Law, Kimmo Palin +53 more
2016British Journal of Cancer68 citations Open access
Semantic Scholar
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
R. Shaheen, N. Patel, H. Shamseldin, F. Alzahrani +21 more
2015Genetics in Medicine67 citations Open access
Semantic Scholar
A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.
S. Wakil, R. Ram, Nzioka P. Muiya, Munish Mehta +8 more
2016Atherosclerosis66 citations
Semantic Scholar
Genetic Study of Saudi Diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes
O. Alsmadi, K. Al-Rubeaan, S. Wakil, F. Imtiaz +6 more
2008Diabetes/Metabolism Research Reviews62 citations
Semantic Scholar
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
D. Monies, H. Alhindi, Mohamed Almuhaizea, M. Abouelhoda +13 more
2016Human Genomics58 citations Open access
Semantic Scholar
The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs
S. Wakil, C. Nguyen, Nzioka P. Muiya, Editha Andres +6 more
2015Disease Markers58 citations Open access
Semantic Scholar
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
Giulia Orlando, P. Law, Kimmo Palin, S. Tuupanen +53 more
2016Human Molecular Genetics53 citations Open access
Semantic Scholar
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos
N. Patel, A. Khan, S. Alsahli, G. Abdelsalam +22 more
2018Clinical Genetics51 citations
Semantic Scholar
Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
S. Wakil, D. Monies, K. Ramzan, Samya T. Hagos +3 more
2014Clinical Genetics43 citations
Semantic Scholar
A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.
Nzioka P. Muiya, S. Wakil, Mohammed Al-Najai, Asma I Tahir +7 more
2014Gene42 citations
Semantic Scholar
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
R. Shaheen, A. A. Al Hashem, M. Alghamdi, Mohammed Zain Seidahmad +10 more
2015Journal of Medical Genetics41 citations
Semantic Scholar
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)
O. Alsmadi, B. Meyer, F. Alkuraya, S. Wakil +4 more
2009European Journal of Human Genetics40 citations Open access
Semantic Scholar
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
S. May-Wilson, A. Sud, P. Law, Kimmo Palin +50 more
2017European Journal of Cancer37 citations Open access
Semantic Scholar
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci
T. Tanskanen, Linda van den Berg, Niko Välimäki, M. Aavikko +56 more
2017International Journal of Cancer33 citations Open access
Semantic Scholar
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
D. Monies, H. Al-Hindi, M. Al-Muhaizea, Dyala Jaroudi +5 more
2014Neuromuscular Disorders30 citations
Semantic Scholar
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
J. Stephen, S. Maddirevula, S. Nampoothiri, J. D. Burke +34 more
2018American Journal of Human Genetics29 citations Open access
Semantic Scholar
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype
R. Altassan, H. Al-Saud, Tariq Ahmad Masoodi, Haya Al Dosssari +14 more
2017American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin‐related phenotypes
M. Al-Owain, S. Wakil, F. Shareef, A. Al-Fatani +8 more
2011Clinical Genetics28 citations
Semantic Scholar
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
S. Wakil, K. Ramzan, Rula Abuthuraya, Samya T. Hagos +7 more
2014Gene27 citations
Semantic Scholar
A common variant association study reveals novel susceptibility loci for low HDL‐cholesterol levels in ethnic Arabs
S. Wakil, R. Ram, Nzioka P. Muiya, Editha Andres +6 more
2016Clinical Genetics26 citations
Semantic Scholar
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.
S. Wakil, S. Bohlega, Samya T. Hagos, Batoul Baz +3 more
2013European Journal of Medical Genetics26 citations
Semantic Scholar
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population
S. Al-Qattan, S. Wakil, S. Anazi, A. Alazami +13 more
2014Genetics in Medicine23 citations Open access
Semantic Scholar
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
M. Alshahid, S. Wakil, Mohammed Al-Najai, Nzioka P. Muiya +7 more
2013Human Genomics23 citations Open access
Semantic Scholar
Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population.
A. K. Siraj, R. Bu, K. Iqbal, S. Parvathareddy +20 more
2020Genomics22 citations Open access
Semantic Scholar
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
Z. Al-Hassnan, Z. Shinwari, S. Wakil, S. Tulbah +8 more
2016BMC Medical Genetics21 citations Open access
Semantic Scholar
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
N. Patel, E. Faqeih, S. Anazi, Mohammad D. Alfawareh +3 more
2015Journal of Medical Genetics21 citations
Semantic Scholar
A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24
S. Wakil, Nzioka P. Muiya, Asma I Tahir, Mohammed Al-Najai +7 more
2014Disease Markers21 citations Open access
Semantic Scholar
Stroke-like episodes, peri-episodic seizures, and MELAS mutations.
J. Finsterer, S. Wakil
2016European journal of paediatric neurology20 citations
Semantic Scholar
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
S. Wakil, D. Monies, Samya T. Hagos, Fahad S. Al-Ajlan +7 more
2018Case Reports in Genetics19 citations Open access
Semantic Scholar
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
N. Patel, H. Shamseldin, N. Sakati, Arif O. Khan +10 more
2017American Journal of Human Genetics19 citations Open access
Semantic Scholar
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
S. Wakil, Safa Alhissi, Haya Al-Dossari, A. Alqahtani +6 more
2019BMC Medical Genetics18 citations Open access
Semantic Scholar
Involvement of ATP-binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease.
S. Zargar, S. Wakil, Abduelah F Mobeirek, A. Al-Jafari
2013Biomedical Reports18 citations Open access
Semantic Scholar
Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy
A. Al-Semari, S. Wakil, Mohammad A. Al-Muhaizea, M. Dababo +3 more
2013Clinical Dysmorphology18 citations
Semantic Scholar
New analytical application of antibody-based biosensor in estimation of thyroid-stimulating hormone in serum.
T. Wani, S. Zargar, S. Wakil, I. Darwish
2016Bioanalysis15 citations
Semantic Scholar
Combining CDKN1A gene expression and genome-wide SNPs in a twin cohort to gain insight into the heritability of individual radiosensitivity
Joanna Żyła, S. Kabacik, G. O'Brien, S. Wakil +5 more
2019Functional & Integrative Genomics14 citations Open access
Semantic Scholar
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
H. Khalak, S. Wakil, F. Imtiaz, K. Ramzan +20 more
2012Genetics in Medicine13 citations Open access
Semantic Scholar
Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
C. Ullbro, S. El-Samadi, C. Boumah, N. Al-Yousef +5 more
2005Acta Dermato-Venereologica13 citations Open access
Semantic Scholar
New or vanishing frontiers: LACC1-associated juvenile arthritis
S. Al-Mayouf, Mada Yateem, Haya Al-Dusery, D. Monies +6 more
2020International Journal of Pediatrics and Adolescent Medicine12 citations Open access
Semantic Scholar
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer
Victoria Gray, S. Briggs, C. Palles, E. Jaeger +20 more
2019Journal of the National Cancer Institute11 citations Open access
Semantic Scholar
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
Sibtain Afzal, K. Ramzan, Sajjad Ullah, S. Wakil +3 more
2020BMC Medical Genetics10 citations Open access
Semantic Scholar
Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
J. Finsterer, C. Scorza, F. Scorza, S. Wakil
2019Acta Neurologica Belgica10 citations
Semantic Scholar

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