Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements
Sahoo, Trilochan, Wang, Jia-Chi, Elnaggar, Mohamed M, Sanchez-Lara, Pedro, Ross, Leslie P, Mahon, Loretta W, Hafezi, Katayoun, Deming, Abigail, Hinman, Lynne, Bruno, Yovana, Bartley, James A, Liehr, Thomas, Anguiano, Arturo, Jones, Marilyn
Published in European journal of human genetics : EJHG (01.01.2015)
Published in European journal of human genetics : EJHG (01.01.2015)
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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Morrow, Melanie, Zach, Tamara, Anguiano, Arturo, Elnaggar, Mohamed M, Wang, Boris T, Boyar, Fatih Z
Published in Molecular cytogenetics (05.09.2017)
Published in Molecular cytogenetics (05.09.2017)
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Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies
Wang, Jia‐Chi, Radcliff, Jeff, Coe, Sandra J., Mahon, Loretta W.
Published in Prenatal diagnosis (01.02.2019)
Published in Prenatal diagnosis (01.02.2019)
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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility
Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Published in European journal of human genetics : EJHG (01.05.2015)
Published in European journal of human genetics : EJHG (01.05.2015)
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Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
Anguiano, Arturo, Wang, Boris T, Wang, Shirong R, Boyar, Fatih Z, Mahon, Loretta W, El Naggar, Mohamed M, Kohn, Peter H, Haddadin, Mary H, Sulcova, Vladimira, Sbeiti, Adam H, Ayad, Mervat S, White, Beverly J, Strom, Charles M
Published in Molecular cytogenetics (16.01.2012)
Published in Molecular cytogenetics (16.01.2012)
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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
Wang, Jia-Chi, Mahon, Loretta W, Ross, Leslie P, Anguiano, Arturo, Owen, Renius, Boyar, Fatih Z
Published in Molecular cytogenetics (15.11.2016)
Published in Molecular cytogenetics (15.11.2016)
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Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Strom, Charles M, Anguiano, Arturo, Talai, Maryam, Nguyen, Bryant, Boyar, Fatih Z
Published in Molecular cytogenetics (16.04.2014)
Published in Molecular cytogenetics (16.04.2014)
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Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement
Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.
Published in Molecular syndromology (01.04.2016)
Published in Molecular syndromology (01.04.2016)
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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
Hemmat, Morteza, Yang, Xiaojing, Chan, Patricia, McGough, Robert A, Ross, Leslie, Mahon, Loretta W, Anguiano, Arturo L, Boris, Wang T, Elnaggar, Mohamed M, Wang, Jia-Chi J, Strom, Charles M, Boyar, Fatih Z
Published in Molecular cytogenetics (29.08.2014)
Published in Molecular cytogenetics (29.08.2014)
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Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays
Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Published in Molecular cytogenetics (21.01.2014)
Published in Molecular cytogenetics (21.01.2014)
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Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology
Hantash, Feras M., Wang, Boris T., Owen, Renius, Ross, Leslie P., Mahon, Loretta W., Boyar, Fatih Z., Anguiano, Arturo, Strom, Charles M.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2012)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2012)
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Single Nucleotide Polymorphism-Based Chromosomal Microarray Evaluation of Hydatidiform Moles: A US National Reference Laboratory Experience
Anguiano, Arturo, Wang, Boris T., Lammers, Kylin Y., Mahon, Loretta W., Truitt, Nicole, Dohany, Lindsay, Boyar, Fatih Z.
Published in Open journal of obstetrics and gynecology (2020)
Published in Open journal of obstetrics and gynecology (2020)
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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Morrow, Melanie, Zach, Tamara, Anguiano, Arturo, Elnaggar, Mohamed M, Wang, Boris T, Boyar, Fatih Z
Published in Molecular cytogenetics (01.01.2017)
Published in Molecular cytogenetics (01.01.2017)
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Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Strom, Charles M, Anguiano, Arturo, Talai, Maryam, Nguyen, Bryant, Boyar, Fatih Z
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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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
Hemmat, Morteza, Yang, Xiaojing, Chan, Patricia, McGough, Robert A, Ross, Leslie, Mahon, Loretta W, Anguiano, Arturo L, Boris, Wang T, Elnaggar, Mohamed M, Wang, Jia-Chi J, Strom, Charles M, Boyar, Fatih Z
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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