Beth A. Torchia

Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

L. Shaffer, B. Ballif, J. Coppinger, 2008, Prenatal diagnosis.

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

L. Shaffer, B. Bejjani, K. Jackson, 2009, Molecular Cytogenetics.

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

S. Schwartz, L. Shaffer, Ankita Patel, 2009, Genetics in Medicine.

aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

J. Rosenfeld, L. Shaffer, B. Ballif, 2009, American journal of medical genetics. Part A.

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

L. Shaffer, B. Ballif, J. Coppinger, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

J. Rosenfeld, L. Shaffer, B. Ballif, 2009, PloS one.

Detection Of Chromosomal Instability And Subtelomeric Rearrangements In Sick Neonate And Children With Multiple Congenital Malformations

E. Haan, L. Shaffer, L. Hinton, 2015 .

Comparison of Microarray-Based Detection Rates for Cytogenetic Abnormalities in Prenatal and Neonatal Specimens

L. Shaffer, B. Ballif, J. Coppinger, 2008 .

In the middle of it all: a centered approach to chromosome analysis.

L. Shaffer, B. Ballif, E. Rorem, 2008, Expert opinion on medical diagnostics.

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

I. Glass, M. Hannibal, K. Tsuchiya, 2008, Molecular Cytogenetics.