Shihui Yu

Summary

Affiliation: Children's Mercy Hospital
Country: USA

Publications

  1. doi request reprint Characterizing small supernumerary marker chromosomes with combination of multiple techniques
    S Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics, Kansas City, MO 64108, USA
    Cytogenet Genome Res 136:6-14. 2012
  2. pmc Genomic profile of copy number variants on the short arm of human chromosome 8
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    Eur J Hum Genet 18:1114-20. 2010
  3. pmc Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome
    Jean Baptiste Le Pichon
    Section of Neurology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Eur J Hum Genet 21:1093-9. 2013
  4. pmc Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot
    Douglas C Bittel
    The Ward Family Heart Center, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri, United States of America
    PLoS ONE 9:e87472. 2014
  5. ncbi request reprint 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features
    Ahmed T Abdelmoity
    Section of Neurology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    J Dev Behav Pediatr 33:570-6. 2012
  6. doi request reprint Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Circ Cardiovasc Genet 4:620-5. 2011
  7. doi request reprint A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes
    Jean Baptiste Lepichon
    Section of Neurology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Am J Med Genet A 152:1300-4. 2010
  8. doi request reprint BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes
    Shihui Yu
    Department of Pathology, University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA
    J Child Neurol 26:1593-6. 2011
  9. doi request reprint Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    Am J Clin Pathol 132:349-60. 2009
  10. doi request reprint 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
    Arivudainambi Ramalingam
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    J Hum Genet 56:541-4. 2011

Collaborators

  • D C Bittel
  • Sarah E Soden
  • Linda D Cooley
  • Merlin G Butler
  • Ahmed T Abdelmoity
  • Jean Baptiste Lepichon
  • Jean Baptiste Le Pichon
  • William D Graf
  • Arivudainambi Ramalingam
  • Nataliya Kibiryeva
  • Carol A Daniel
  • Sarah S Nyp
  • Xin gang Zhou
  • Stephanie D Fiedler
  • Sarah J Brawner
  • Hong Yu Liu
  • Julie M Joyce
  • John J Hall

Detail Information

Publications13

  1. doi request reprint Characterizing small supernumerary marker chromosomes with combination of multiple techniques
    S Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics, Kansas City, MO 64108, USA
    Cytogenet Genome Res 136:6-14. 2012
    ..Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs...
  2. pmc Genomic profile of copy number variants on the short arm of human chromosome 8
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    Eur J Hum Genet 18:1114-20. 2010
    ..Other CNVs with deletion- or duplication-specific start or stop coordinates on the 8p provide useful information for exploring the basic mechanisms of complex structural rearrangements in the human genome...
  3. pmc Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome
    Jean Baptiste Le Pichon
    Section of Neurology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Eur J Hum Genet 21:1093-9. 2013
    ..3 homozygous deletion, and thus contributed to the severe developmental encephalopathy of the proband. Furthermore, we show that a potentially important pathway in learning and development is affected by the deletion of CHRNA7. ..
  4. pmc Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot
    Douglas C Bittel
    The Ward Family Heart Center, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri, United States of America
    PLoS ONE 9:e87472. 2014
    ..Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects...
  5. ncbi request reprint 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features
    Ahmed T Abdelmoity
    Section of Neurology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    J Dev Behav Pediatr 33:570-6. 2012
    ..In addition, possible etiological effects of 15q11.2 BP1-BP2 duplication in neuropsychiatric disorders are proposed...
  6. doi request reprint Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Circ Cardiovasc Genet 4:620-5. 2011
    ..The GATA4 gene is critical to regulating myocardial differentiation and function. Haploinsufficiency of GATA4 is strongly associated with congenital heart defects (CHD). However, it is inconclusive whether duplicated GATA4 causes CHD...
  7. doi request reprint A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes
    Jean Baptiste Lepichon
    Section of Neurology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Am J Med Genet A 152:1300-4. 2010
    ..The distinctive clinical findings in this patient reveal potential functions of the genes within the deleted region...
  8. doi request reprint BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes
    Shihui Yu
    Department of Pathology, University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA
    J Child Neurol 26:1593-6. 2011
    ..We propose a BRAF gene loss-of-function mechanism to best explain the biological basis of this severe developmental encephalopathy with postnatal growth deficiency...
  9. doi request reprint Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    Am J Clin Pathol 132:349-60. 2009
    ..49-2.62 Mb) with a common 2.43-Mb deleted region. Approximately 7 copy number variants from 400 base pairs to 1.6 Mb were identified per sample. Results demonstrate the usefulness of the aCGH-244K platform as a powerful diagnostic tool...
  10. doi request reprint 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
    Arivudainambi Ramalingam
    Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    J Hum Genet 56:541-4. 2011
    ..Our data expand the spectrum of the clinical findings in patients with these genomic abnormalities and provide further support for the pathogenic involvement of this duplication in patients who carry them...
  11. doi request reprint 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay
    Ahmed T Abdelmoity
    Section of Neurology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    Eur J Med Genet 54:198-203. 2011
    ..3 Mb terminal deletion of 12p13.33 reported recently, indicating the presence of an unstable structure near the breakpoint facilitating recurrent genomic rearrangements...
  12. pmc An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype
    Merlin G Butler
    Department of Psychiatry and Behavioral Sciences, Kansas University Medical Center, Kansas City, Kansas 66160, USA
    Am J Med Genet A 152:404-8. 2010
    ....
  13. doi request reprint Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization
    Shihui Yu
    Department of Pathology, Children s Mercy Hospitals and Clinics, and University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA
    Genet Test Mol Biomarkers 13:751-60. 2009
    ..Our data illustrate that qPCR methodology using SYBR Green I reagents is accurate, highly sensitive, specific, rapid, and cost-effective for verification of chromosomal imbalances detected by aCGH in the clinical setting...