Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

von Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.
Veröffentlicht in Mol Syndromol (2016)

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 p...

von Wang, Jia-Chi, Mahon, Loretta W., Ross, Leslie P., Anguiano, Arturo, Owen, Renius, Boyar, Fatih Z.
Veröffentlicht in Mol Cytogenet (2016)

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

von Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Strom, Charles M, Anguiano, Arturo, Talai, Maryam, Nguyen, Bryant, Boyar, Fatih Z
Veröffentlicht 2014

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

von Hantash, Feras M., Wang, Boris T., Owen, Renius, Ross, Leslie P., Mahon, Loretta W., Boyar, Fatih Z., Anguiano, Arturo, Strom, Charles M.
Veröffentlicht in J Pediatr Genet (2012)

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

von Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Morrow, Melanie, Zach, Tamara, Anguiano, Arturo, Elnaggar, Mohamed M, Wang, Boris T, Boyar, Fatih Z
Veröffentlicht in Mol Cytogenet (2017)

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

von 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
Veröffentlicht 2014

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

von 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
Veröffentlicht in Mol Cytogenet (2014)

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

von 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
Veröffentlicht in Eur J Hum Genet (2015)

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

von 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
Veröffentlicht 2012

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

von 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
Veröffentlicht in Eur J Hum Genet (2015)