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...

por Wang, Jia-Chi, Mahon, Loretta W., Ross, Leslie P., Anguiano, Arturo, Owen, Renius, Boyar, Fatih Z.
Publicado 2016

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

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

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

por Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Morrow, Melanie, Zach, Tamara, Anguiano, Arturo, Elnaggar, Mohamed M, Wang, Boris T, Boyar, Fatih Z
Publicado 2017

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

por 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
Publicado 2014

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

por 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
Publicado 2014

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

por 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
Publicado 2012