Haddadin, Mary

Publications

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. European journal of human genetics : EJHG. 2014 Academic Article GET IT
Times cited: 40
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Molecular cytogenetics. 2014 Academic Article GET IT
Times cited: 11
Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review. Molecular cytogenetics. 2013 Academic Article GET IT
Times cited: 8
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory. Molecular cytogenetics. 2012 Academic Article GET IT
Times cited: 12
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nature genetics. 2010 Academic Article GET IT
Times cited: 227
Molecular cytogenetic characterization of pancreas cancer cell lines reveals high complexity chromosomal alterations. Cytogenetic and genome research. 2007 Review GET IT
Times cited: 29
A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies. 2004 GET IT
Times cited: 4
Cytogenetic study of malignant triton tumor: a case report. 2003 GET IT
Times cited: 28