Tamim H Shaikh
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Explore the profile of Tamim H Shaikh including associated specialties, affiliations and a list of published articles.
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54
Citations
2623
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Recent Articles
1.
Yilmaz F, Gurusamy U, Mosley T, Hallast P, Kim K, Mostovoy Y, et al.
Genome Med
. 2023 May;
15(1):35.
PMID: 37165454
Background: High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders...
2.
Demarest S, Calhoun J, Eschbach K, Yu H, Mirsky D, Angione K, et al.
Dev Med Child Neurol
. 2022 Jul;
64(5):633-640.
PMID: 35830182
Aim: To identify additional genes associated with infantile spasms using a cohort with defined infantile spasms. Method: Whole-exome sequencing (WES) was performed on 21 consented individuals with infantile spasms and...
3.
Null M, Yilmaz F, Astling D, Yu H, Cole J, Hallgrimsson B, et al.
HGG Adv
. 2022 Jan;
3(1):100082.
PMID: 35047866
Similarity in facial characteristics between relatives suggests a strong genetic component underlies facial variation. While there have been numerous studies of the genetics of facial abnormalities and, more recently, single...
4.
Vervoort L, Dierckxsens N, Pereboom Z, Capozzi O, Rocchi M, Shaikh T, et al.
Front Genet
. 2021 Aug;
12:706641.
PMID: 34335701
Segmental duplications or low copy repeats (LCRs) constitute duplicated regions interspersed in the human genome, currently neglected in standard analyses due to their extreme complexity. Recent functional studies have indicated...
5.
Yilmaz F, Null M, Astling D, Yu H, Cole J, Santorico S, et al.
BMC Med Genomics
. 2021 May;
14(1):129.
PMID: 34001112
Background: Copy number variations (CNVs) account for a substantial proportion of inter-individual genomic variation. However, a majority of genomic variation studies have focused on single-nucleotide variations (SNVs), with limited genome-wide...
6.
Mostovoy Y, Yilmaz F, Chow S, Chu C, Lin C, Geiger E, et al.
Genetics
. 2021 Mar;
217(2).
PMID: 33724415
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to...
7.
Reyes-Nava N, Yu H, Coughlin 2nd C, Shaikh T, Quintana A
Biol Open
. 2020 Mar;
9(4).
PMID: 32205311
We used whole-exome sequencing (WES) to determine the genetic etiology of a patient with a multi-system disorder characterized by a seizure phenotype. WES identified a heterozygous missense mutation in the...
8.
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand M, et al.
Genome Res
. 2019 Sep;
29(9):1389-1401.
PMID: 31481461
Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to...
9.
Hu T, Kruszka P, Martinez A, Ming J, Shabason E, Raam M, et al.
Am J Med Genet C Semin Med Genet
. 2018 Sep;
178(2):175-186.
PMID: 30182442
Holoprosencephaly (HPE), a common developmental forebrain malformation, is characterized by failure of the cerebrum to completely divide into left and right hemispheres. The etiology of HPE is heterogeneous and a...
10.
Shaikh T
Curr Genet Med Rep
. 2018 May;
5(4):183-190.
PMID: 29732242
Purpose Of Review: Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the...