Expanding the phenotype of mosaic trisomy 20.
Am. J. Med. Genet. A., Feb;146(3):330-6 (2008)
Ring chromosome X in a child with manifestations of Kabuki syndrome.
Am. J. Med. Genet., May;70(1):37-42 (1997)
Prenatal diagnosis of cleft lip and palate: experiences in Southern California.
Cleft Palate Craniofac. J., Mar;36(2):107-9 (1999)
Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling.
Cleft Palate Craniofac. J., Mar;39(2):169-73 (2002)
Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus.
Prenat. Diagn., Mar;14(3):163-5 (1994)
Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline.
Am. J. Med. Genet., Oct;53(1):33-8 (1994)
Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome.
Pediatrics., May;97(5):739-41 (1996)
Hepatoblastoma characterized by trisomy 20 and double minutes.
Cancer Genet. Cytogenet., Jul;47(2):243-7 (1990)
Paraplegia and congenital contractures as a consequence of intrauterine trauma.
Am. J. Med. Genet., Jul;43(4):751-2 (1992)
Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern.
J Ultrasound Med., Jul;30(7):1009-19 (2011)
Anencephaly with holoprosencephalic facies due to ring chromosome 18.
Clin. Dysmorphol., Oct;6(4):351-8 (1997)
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.
Am. J. Hum. Genet., Jul;65(1):104-10 (1999)
Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18.
Prenat. Diagn., Sep;22(9):792-7 (2002)
Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation.
J. Pediatr., Apr;146(4):565-7 (2005)
McGraw-Hill: Comprehensive Cleft Care
Co-Author, "Facial nerve paralysis: An unrecognized cause of lower lid entropion in the pediatric population."
Ophthalmic Plastic and Reconstructive Surgery
Churchill-Livingstone: Emery and Rimoinâ€™s Principles and Practice of Medical Genetics, 5th ed.
Co-Author, "High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor."