Syed K Rafi
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Explore the profile of Syed K Rafi including associated specialties, affiliations and a list of published articles.
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10
Citations
172
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Recent Articles
1.
Hossain W, St Peter C, Lovell S, Rafi S, Butler M
Int J Mol Sci
. 2025 Feb;
26(3).
PMID: 39941075
Mowat-Wilson syndrome (MWS) is a rare multi-system genetic disorder caused by variants in the Zinc Finger E-Box-Binding Homeobox 2 (ZEB2) gene. ZEB2 is an autosomal dominant gene containing ten exons...
2.
St Peter C, Hossain W, Lovell S, Rafi S, Butler M
Int J Mol Sci
. 2024 Mar;
25(5).
PMID: 38474085
Mowat-Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox 2 () gene. The gene is autosomal dominant and...
3.
Rafi S, Goering J, Olm-Shipman A, Hipp L, Ernst N, Wilson N, et al.
PLoS One
. 2021 Feb;
16(2):e0246989.
PMID: 33577554
Topiramate is an anti-epileptic drug that is commonly prescribed not just to prevent seizures but also migraine headaches, with over 8 million prescriptions dispensed annually. Topiramate use during pregnancy has...
4.
Rafi S, Butler M
Int J Mol Sci
. 2020 May;
21(9).
PMID: 32384786
The 15q11.2 BP1-BP2 microdeletion () syndrome is emerging as the most frequent pathogenic copy number variation (CNV) in humans associated with neurodevelopmental disorders with changes in brain morphology, behavior, and...
5.
Rafi S, Fernandez-Jaen A, Alvarez S, Nadeau O, Butler M
Int J Mol Sci
. 2019 Jul;
20(13).
PMID: 31323913
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 ( gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense...
6.
McGuire A, Rafi S, Manzardo A, Butler M
Int J Mol Sci
. 2016 May;
17(5).
PMID: 27164088
Mammalian chromosomes are comprised of complex chromatin architecture with the specific assembly and configuration of each chromosome influencing gene expression and function in yet undefined ways by varying degrees of...
7.
Butler M, Rafi S, McGuire A, Manzardo A
Gene
. 2015 Sep;
575(1):149-59.
PMID: 26341055
Objective: To provide an update of currently recognized clinically relevant candidate and known genes for human reproduction and related infertility plotted on high resolution chromosome ideograms (850 band level) and...
8.
Butler M, Rafi S, Manzardo A
Int J Mol Sci
. 2015 Mar;
16(3):6464-95.
PMID: 25803107
Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has...
9.
Butler M, Rafi S, Hossain W, Stephan D, Manzardo A
Int J Mol Sci
. 2015 Jan;
16(1):1312-35.
PMID: 25574603
Classical autism or autistic disorder belongs to a group of genetically heterogeneous conditions known as Autism Spectrum Disorders (ASD). Heritability is estimated as high as 90% for ASD with a...
10.
Dasouki M, Rafi S, Olm-Shipman A, Wilson N, Abhyankar S, Ganter B, et al.
Blood
. 2013 Oct;
122(20):3440-9.
PMID: 24085763
We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation...