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S. Kennedy · SciRah

Researcher profile · Semantic Scholar

S. Kennedy

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S. Kennedy — researcher profile on SciRah

h-index: 16
Works: 23
Citations: 2,072

Most-cited papers

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
M. Faughnan, V. Palda, G. Garcia-Tsao, U. Geisthoff +29 more
2009Journal of Medical Genetics1,084 citations
Semantic Scholar
Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation
C. Boerkoel, H. Takashima, Carlos A. Garcia, R. Olney +12 more
2002Annals of Neurology303 citations
Semantic Scholar
A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type
M. Faiyaz-ul-Haque, Sumbal Zaidi, M. Al-Ali, Mariam Al-Mureikhi +4 more
2004American Journal of Medical Genetics. Part A115 citations
Semantic Scholar
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
S. Abdalla, U. Geisthoff, D. Bonneau, Henri Plauchu +4 more
2003Journal of Medical Genetics92 citations Open access
Semantic Scholar
Genetic analysis of patients with the Saethre-Chotzen phenotype.
K. Chun, A. Teebi, Jack H. Jung, S. Kennedy +6 more
2002American journal of medical genetics85 citations
Semantic Scholar
Detecting rearrangements in children using subtelomeric FISH and SKY.
Blaise Clarkson, K. Pavenski, L. Dupuis, S. Kennedy +8 more
2002American journal of medical genetics65 citations
Semantic Scholar
Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism
B. Lo, Muhammad Faiyaz-Ul-Haque, S. Kennedy, R. Aviv +2 more
2003American Journal of Medical Genetics. Part A57 citations
Semantic Scholar
Clinical and genetic aspects of trigonocephaly: A study of 25 cases
C. Azimi, S. Kennedy, D. Chitayat, P. Chakraborty +3 more
2002American Journal of Medical Genetics. Part A43 citations
Semantic Scholar
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
S. Kennedy, B. Potter, K. Wilson, L. Fisher +3 more
2010BMC Pediatrics34 citations Open access
Semantic Scholar
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
F. Imtiaz, K. Taibah, K. Ramzan, Ghada Bin-Khamis +10 more
2011BMC Medical Genetics30 citations Open access
Semantic Scholar
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
A. Teebi, S. Kennedy, K. Chun, P. Ray
2002American journal of medical genetics27 citations
Semantic Scholar
Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects.
S. Kennedy, A. S. Teebi, I. Adatia, I. Teshima
2001American journal of medical genetics26 citations
Semantic Scholar
Developing a National Newborn Screening Strategy for Canada
K. Wilson, S. Kennedy, B. Potter, M. Geraghty +1 more
201022 citations
Semantic Scholar
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia
Justine H. Cohen, M. Faughnan, M. Letarte, Kirk Vandezande +2 more
2005American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
M. Al-Owain, N. Kaya, H. Alzaidan, Ibrahim Bin Hussain +9 more
2010Clinical and Developmental Immunology19 citations Open access
Semantic Scholar
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
S. Kennedy, A. S. Teebi
2004American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?
Benjamin D. Lemire, J. Buncic, S. Kennedy, Sarah J. Dyack +1 more
2004American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
F. Imtiaz, K. Taibah, Ghada Bin-Khamis, S. Kennedy +7 more
2012Molecular Vision11 citations
Semantic Scholar
Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information
Deborah A. R. Hinkson, E. Atenafu, S. Kennedy, S. Vohra +2 more
2006American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
S. Kennedy, K. Lee, B. McCrindle, A. Teebi
1999Journal of Medical Genetics2 citations
Semantic Scholar
Autosomal Recessive Traits and Diseases
A. Teebi, S. Kennedy
20061 citations
Semantic Scholar
A novel homozygous recessive mutation in the galactosyltransferase-I (B4GALT7) gene in individuals resembling the progeroid type of Ehlers-Danlos syndrome
Mf Haque, A. Teebi, M. Al-Ali, AlMureikhi +4 more
20030 citations
Semantic Scholar
Prenatal diagnosis of fragile X syndrome: identification of a male fetus mosaic for a premutation on chorionic villus sampling - management and follow-up
S. Kennedy, C. Wei, L. Steele, A. Teebi
2000Genetics in Medicine0 citations Open access
Semantic Scholar

Frequent co-authors

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A. Teebi×9
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A. Teebi — researcher profile on SciRah
A. S. Teebi×5
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A. S. Teebi — researcher profile on SciRah
M. Faughnan×3
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M. Faughnan — researcher profile on SciRah
L. Tsui×3
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×3

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I. Teshima — researcher profile on SciRah

P. Chakraborty×3

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M. Al-Owain — researcher profile on SciRah

U. Geisthoff×2

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J. McDonald — researcher profile on SciRah

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M. Al-Ali — researcher profile on SciRah

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G. Al-thani — researcher profile on SciRah

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K. Chun — researcher profile on SciRah