R. Spiro

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

D. Nickerson, M. Bamshad, D. Krakow, 2016, Scientific Reports.

Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia

D. Ledbetter, S. Christian, M. New, 1999, Pediatric Research.

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism

L. Shaffer, R. Spiro, C. Jones, 1995, Prenatal diagnosis.

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

C. Martin, G. Raca, M. Adam, 2008, Genetics in Medicine.

Two 22q telomere deletions serendipitously detected by FISH.

D. Ledbetter, S. Christian, P. Huttenlocher, 1998, Journal of medical genetics.

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.

D. Ledbetter, S. Christian, B. Rich, 1999, The Journal of pediatrics.

TRISOMY 12/MONOSOMY X/NORMAL FEMALE MOSAICISM: PRENATAL DETECTION AND CONFIRMATION IN A LIVEBORN

R. Spiro, D. Rita, C. Booth, 1996, Prenatal diagnosis.