A. Bandholz

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

J. Rosenfeld, B. Torchia, L. Shaffer, 2012, Prenatal diagnosis.

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

J. Rosenfeld, B. Torchia, L. Shaffer, 2014, American journal of medical genetics. Part A.

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

J. Rosenfeld, E. Roeder, Ankita Patel, 2014, PloS one.

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

J. Rosenfeld, B. Torchia, U. Surti, 2009, Genetics in Medicine.

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

J. Rosenfeld, B. Torchia, L. Shaffer, 2012, Prenatal diagnosis.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

J. Rosenfeld, L. Shaffer, B. Ballif, 2012, Molecular Syndromology.