Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.
Hum. Genet., Jul;131(7):1115-22 (2012)
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Am. J. Med. Genet. A., Feb;158A(2):391-9 (2012)
Familial cardiac valvulopathy due to filamin A mutation.
Am. J. Med. Genet. A., Sep;155A(9):2236-41 (2011)
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Genet. Med., Nov;12(11):742-5 (2010)
Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
J Craniofac Surg., Sep;21(5):1346-9 (2010)
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing.
Clin. Chem., Aug;56(8):1279-86 (2010)
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.
Pediatrics., Aug;114(2):451-7 (2004)
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.
Am. J. Med. Genet. A., Mar;133A(2):115-21 (2005)
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
Am. J. Med. Genet. A., May;134(4):359-62 (2005)
Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics.
J Ultrasound Med., Jun;24(6):811-5 (2005)
Terminal deletion of 6p results in a recognizable phenotype.
Am. J. Med. Genet. A., Jul;136(2):162-8 (2005)
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
Am. J. Med. Genet. A., Jan;140(2):170-3 (2006)
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.
Genet. Med., Jan;8(1):50-4 (2006)
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.
Proc. Natl. Acad. Sci. U.S.A., Oct;105(42):16266-71 (2008)
Prenatal diagnosis in the adolescent patient.
Adolesc Med., Jun;13(2):293-303, vi (2002)
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
J. Pediatr., Nov;141(5):695-700 (2002)
Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.
Prenat. Diagn., Dec;31(13):1292-9 (2011)
Nuchal translucency measurement in fetuses with spinal muscular atrophy.
Prenat. Diagn., Apr;31(4):327-30 (2011)
Challenges in the clinical application of whole-genome sequencing.
Lancet., May;375(9727):1749-51 (2010)
Clinical assessment incorporating a personal genome.
Lancet., May;375(9725):1525-35 (2010)