Publications by authors named "Fatih Boyar"

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Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing.
Brynn Levy, Jie Liu, M Anwar Iqbal, Barbara DuPont, Nikhil Sahajpal, Fatih Boyar

J Mol Diagn· October 2024

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CMA analysis identifies homozygous deletion of in 2 brothers with primary Microcephaly-1.
Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Fatih Z Boyar

Mol Cytogenet· September 2017

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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.
Jia-Chi Wang, Loretta W Mahon, Leslie P Ross, Arturo Anguiano, Renius Owen, Fatih Z Boyar

Mol Cytogenet· November 2016

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Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.
Jia-Chi Wang, Fatih Z Boyar

Mol Cytogenet· August 2016

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Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Jessica Vasale, Fatih Boyar, Michael Jocson, Vladimira Sulcova, Patricia Chan

Neuromuscul Disord· December 2015

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Jia-Chi Wang, Leslie Ross, Loretta W Mahon, Renius Owen, Morteza Hemmat, Fatih Z Boyar

Eur J Hum Genet· May 2015

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Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.
Morteza Hemmat, Xiaojing Yang, Patricia Chan, Robert A McGough, Leslie Ross, Fatih Z Boyar

Mol Cytogenet· December 2014

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Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results.
Morteza Hemmat, Weina Chen, Arturo Anguiano, Mohammed El Naggar, Frederick K Racke, Fatih Z Boyar

Mol Cytogenet· September 2014

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Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.
Boris T Wang, Thomas P Chong, Fatih Z Boyar, Kimberly A Kopita, Leslie P Ross

Mol Cytogenet· June 2014

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Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.
Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Charles M Strom, Arturo Anguiano, Fatih Z Boyar

Mol Cytogenet· May 2014

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Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature.
Morteza Hemmat, Omid Hemmat, Fatih Z Boyar

Mol Cytogenet· September 2013

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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.
Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar

Mol Cytogenet· May 2013

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Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology.
Feras M Hantash, Boris T Wang, Renius Owen, Leslie P Ross, Loretta W Mahon, Fatih Z Boyar

J Pediatr Genet· June 2012

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Neocentric X-chromosome in a girl with Turner-like syndrome.
Morteza Hemmat, Boris T Wang, Peter E Warburton, Xiaojing Yang, Fatih Z Boyar

Mol Cytogenet· June 2012

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Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
Arturo Anguiano, Boris T Wang, Shirong R Wang, Fatih Z Boyar, Loretta W Mahon

Mol Cytogenet· January 2012

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Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses.
Sofiya Reicher, Fatih Z Boyar, Maher Albitar, Vladimira Sulcova, Sally Agersborg

Pancreas· October 2011

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Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings.
Bao-Tyan Wang, Morteza Hemmat, Parul Jayakar, Fatih Boyar, Patricia Chan

Pediatr Int· June 2010

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Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis.
Ahmad M Khalil, Fatih Z Boyar, Daniel J Driscoll

Proc Natl Acad Sci U S A· November 2004

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