Publications by authors named "Caroline Astbury"

41Publications

EWSR1-SMAD3 Rearranged Fibroblastic Tumor: Case Series and Review.

J Cutan Pathol 2020 Sep 9. Epub 2020 Sep 9.

Department of Pathology, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1111/cup.13870DOI Listing
September 2020

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Aug 14;22(8):1288-1295. Epub 2020 May 14.

Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR, USA.

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http://dx.doi.org/10.1038/s41436-020-0822-5DOI Listing
August 2020

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Jul 16;22(7):1133-1141. Epub 2020 Apr 16.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/s41436-020-0782-9DOI Listing
July 2020

Further evidence of GABRA4 and TOP3B as autism susceptibility genes.

Eur J Med Genet 2020 May 3;63(5):103876. Epub 2020 Feb 3.

Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103876DOI Listing
May 2020

Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".

Case Rep Genet 2019;2019:4361630. Epub 2019 Nov 24.

Molecular Pathology Section, Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1155/2019/4361630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906839PMC
November 2019

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Eur J Med Genet 2020 Jan 2;63(1):103636. Epub 2019 Mar 2.

Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.008DOI Listing
January 2020

Uterine Inflammatory Myofibroblastic Tumor Showing an Atypical ALK Signal Pattern by FISH and DES-ALK Fusion by RNA Sequencing: A Case Report.

Int J Gynecol Pathol 2020 Mar;39(2):152-156

Department of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, Ohio (S.Z., F.W.A.-K., C.A., M.L.C.P.-N.) University of Arizona College of Medicine Phoenix and Creighton University Phoenix College of Medicine (D.M.C.).

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http://dx.doi.org/10.1097/PGP.0000000000000588DOI Listing
March 2020

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Eur J Med Genet 2018 Jul 20;61(7):416-420. Epub 2018 Mar 20.

The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Department of Pathology, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.02.008DOI Listing
July 2018

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Cytogenet Genome Res 2017 27;152(2):105-109. Epub 2017 Jul 27.

Division of Molecular and Human Genetics, Columbus, OH, USA.

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http://dx.doi.org/10.1159/000478921DOI Listing
September 2017

Clinical exome sequencing reports: current informatics practice and future opportunities.

J Am Med Inform Assoc 2017 Nov;24(6):1184-1191

Research Information Solutions and Innovation, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1093/jamia/ocx048DOI Listing
November 2017

Histology, fusion status, and outcome in metastatic rhabdomyosarcoma: A report from the Children's Oncology Group.

Pediatr Blood Cancer 2017 Dec 18;64(12). Epub 2017 May 18.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.26645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647228PMC
December 2017

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Am J Med Genet A 2017 Apr;173(4):1056-1060

Departmentof Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38098DOI Listing
April 2017

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.

Eur J Med Genet 2016 Nov 4;59(11):569-572. Epub 2016 Oct 4.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.10.002DOI Listing
November 2016

17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.

Eur J Med Genet 2016 Oct 12;59(10):512-6. Epub 2016 Sep 12.

Division of Molecular & Human Genetics, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064849PMC
http://dx.doi.org/10.1016/j.ejmg.2016.09.006DOI Listing
October 2016

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Mol Genet Genomic Med 2015 Mar 3;3(2):99-110. Epub 2014 Dec 3.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.

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http://dx.doi.org/10.1002/mgg3.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367082PMC
March 2015

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Eur J Med Genet 2014 Jul 10;57(7):315-8. Epub 2014 May 10.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.018DOI Listing
July 2014

Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.

Case Rep Endocrinol 2013 19;2013:524647. Epub 2013 Dec 19.

Division of Neonatology, Nationwide Children's Hospital/The Ohio State University College of Medicine, Columbus, OH 43205, USA.

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http://www.hindawi.com/journals/crie/2013/524647/
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http://dx.doi.org/10.1155/2013/524647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880733PMC
January 2014

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Eur J Med Genet 2013 Nov 27;56(11):609-13. Epub 2013 Sep 27.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.007DOI Listing
November 2013

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Forensic Sci Int Genet 2013 Sep 28;7(5):475-81. Epub 2013 Jun 28.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.fsigen.2013.05.008DOI Listing
September 2013

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Eur J Med Genet 2013 Sep 26;56(9):521-5. Epub 2013 Jul 26.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.004DOI Listing
September 2013

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Eur J Med Genet 2013 Sep 13;56(9):510-4. Epub 2013 Jul 13.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.05.010DOI Listing
September 2013

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Eur J Hum Genet 2014 Jan 22;22(1):105-9. Epub 2013 May 22.

1] Division of Molecular and Human Genetics, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA [2] Department of Pediatrics, The Ohio State University, Columbus, OH, USA [3] Center for Cardiovascular and Pulmonary Research, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1038/ejhg.2013.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865421PMC
January 2014

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

Am J Med Genet A 2012 Nov 14;158A(11):2925-30. Epub 2012 Sep 14.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35610DOI Listing
November 2012

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Am J Med Genet A 2012 Aug 11;158A(8):1924-33. Epub 2012 Jul 11.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35477DOI Listing
August 2012

Preface: Cytogenetics.

Authors:
Caroline Astbury

Clin Lab Med 2011 Dec 17;31(4):xiii-xv. Epub 2011 Sep 17.

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http://dx.doi.org/10.1016/j.cll.2011.08.017DOI Listing
December 2011

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

Clin Lab Med 2011 Dec;31(4):565-80, viii

Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.cll.2011.08.007DOI Listing
December 2011

Novel diagnostic features of dysferlinopathies.

Muscle Nerve 2010 Jul;42(1):14-21

Department of Pediatrics, Neuromuscular Division, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.21650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025537PMC
July 2010

A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.

J Mol Diagn 2008 Sep 7;10(5):469-74. Epub 2008 Aug 7.

Department of Genetic Testing, Kaiser Permanente, 4580 Electronics Place, Los Angeles, CA 90039-1008, USA.

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http://dx.doi.org/10.2353/jmoldx.2008.080059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518742PMC
September 2008

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

Genet Med 2004 Mar-Apr;6(2):81-9

Center for Human Genetics and Department of Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1097/01.gim.0000117850.04443.c9DOI Listing
October 2004

Delineation of complex chromosomal rearrangements: evidence for increased complexity.

Hum Genet 2004 Apr 7;114(5):448-57. Epub 2004 Feb 7.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1007/s00439-003-1079-1DOI Listing
April 2004

A novel tumorigenic human prostate epithelial cell line (M2205): molecular cytogenetic characterization demonstrates C-MYC amplification and jumping translocations.

Cancer Genet Cytogenet 2003 Feb;141(1):56-64

Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA 23298-0033, USA.

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http://dx.doi.org/10.1016/s0165-4608(02)00665-9DOI Listing
February 2003