Tamim Shaikh

Tamim Shaikh

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Tamim Shaikh

Tamim Shaikh

Publications by authors named "Tamim Shaikh"

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53Publications

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Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):175-186

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127867PMC
June 2018

Copy Number Variation Disorders.

Authors:
Tamim H Shaikh

Curr Genet Med Rep 2017 Dec 14;5(4):183-190. Epub 2017 Oct 14.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO 80045.

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http://dx.doi.org/10.1007/s40142-017-0129-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931734PMC
December 2017

The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

Prenat Diagn 2017 Jan 24;37(1):31-36. Epub 2016 Nov 24.

Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1002/pd.4957DOI Listing
January 2017

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000844

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA;; Colorado Intellectual and Developmental Disabilities Research Center (IDDRC), University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

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http://dx.doi.org/10.1101/mcs.a000844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853521PMC
May 2016

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103049DOI Listing
August 2015

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Hum Mol Genet 2015 Aug 13;24(15):4443-53. Epub 2015 May 13.

Department of Pediatrics, Section of Clinical Genetics and Metabolism and, Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA,

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http://dx.doi.org/10.1093/hmg/ddv180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492403PMC
August 2015

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Dev Biol 2014 Dec 2;396(1):94-106. Epub 2014 Oct 2.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA; Section of Genetics, University of Colorado, School of Medicine, Aurora, CO 80045, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2014.09.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391465PMC
December 2014

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Tremor Other Hyperkinet Mov (N Y) 2014 20;4:258. Epub 2014 Oct 20.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA ; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.7916/D8FB51G3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219111PMC
November 2014

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Genome Med 2012 30;4(10):80. Epub 2012 Oct 30.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO 80045, USA ; Intellectual and Developmental Disabilities Research Center, University of Colorado Denver, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1186/gm381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580449PMC
June 2014

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Am J Med Genet A 2013 Dec 16;161A(12):3137-43. Epub 2013 Aug 16.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36149DOI Listing
December 2013

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Am J Med Genet A 2013 Mar 7;161A(3):527-33. Epub 2013 Feb 7.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1002/ajmg.a.35784DOI Listing
March 2013

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Congenit Heart Dis 2011 Nov-Dec;6(6):592-602. Epub 2011 Oct 20.

Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/j.1747-0803.2011.00582.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575121PMC
March 2012

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

Hum Mol Genet 2011 Mar 8;20(5):880-93. Epub 2010 Dec 8.

Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/hmg/ddq527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033180PMC
March 2011

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.

Cancer Genet 2011 Jan;204(1):26-38

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2010.10.007DOI Listing
January 2011

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

BMC Bioinformatics 2010 Feb 4;11:74. Epub 2010 Feb 4.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/1471-2105-11-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827374PMC
February 2010

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Eur J Med Genet 2009 Jul-Aug;52(4):265-8. Epub 2008 Dec 13.

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800165
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http://dx.doi.org/10.1016/j.ejmg.2008.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391973PMC
November 2009

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Hum Mutat 2009 Mar;30(3):371-8

Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/humu.20863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650004PMC
March 2009

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.

Authors:
Tamim H Shaikh

Genet Med 2007 Sep;9(9):617-25

Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1097GIM.0b013e318148bb81DOI Listing
September 2007

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.

Am J Med Genet A 2007 Aug;143A(15):1767-70

Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.31843
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http://dx.doi.org/10.1002/ajmg.a.31843DOI Listing
August 2007

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Hum Mutat 2006 May;27(5):467-73

Division of Human Genetics, Stokes Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/humu.20322DOI Listing
May 2006

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.

Hum Mutat 2005 Oct;26(4):332-42

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake,Toyoake, Aichi 470-1192, Japan.

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http://dx.doi.org/10.1002/humu.20228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818517PMC
October 2005

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Am J Med Genet A 2005 Aug;137(2):208-12

Division of Human Genetics and Molecular Biology, 1007A Abramson Research Center, Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30845
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http://dx.doi.org/10.1002/ajmg.a.30845DOI Listing
August 2005

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

Hum Mol Genet 2004 Jan 12;13(1):103-15. Epub 2003 Nov 12.

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddh004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818528PMC
January 2004

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

Hum Mol Genet 2003 Nov 2;12(21):2817-25. Epub 2003 Sep 2.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddg301DOI Listing
November 2003

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

Am J Hum Genet 2003 Mar 29;72(3):733-8. Epub 2003 Jan 29.

Division of Human Genetics and Molecular Biology, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1086/368062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180249PMC
March 2003