Sharon Zeligson

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Expanding the phenotype of <scp>CRB2</scp> mutations – A new ciliopathy syndrome?

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia