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Genome Research|September 4, 2008
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)Marzena Gajecka, Andrew J Gentles, Albert Tsai, et al.American Journal of Perinatology|February 2, 2006
Fetal pericardial teratoma: presentation of two cases and review of literatureRima Bader, Lisa K Hornberger, Larry J Nijmeh, et al.Clinical Dysmorphology|September 8, 2006
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?Gustavo H B Maegawa, David Chitayat, Susan Blaser, et al.Pediatric Blood & Cancer|March 31, 2021
Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregiversKalene van Engelen, Maru Barrera, Jonathan D Wasserman, et al.Prenatal Diagnosis|July 10, 2026
Natural History of Fetal Non-Nuchal Lymphatic Malformations: A Single Center Retrospective StudyYada Kunpalin, Dilkash Kajal, Lennart Van der Veeken, et al.Journal of the American Heart Association|June 4, 2013
Impact of prenatal risk factors on congenital heart disease in the current eraAlan Fung, Cedric Manlhiot, Sapna Naik, et al.Journal of Pediatric Genetics|August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.American Journal of Medical Genetics. Part A|July 9, 2011
Duplication of the STS region in males is a benign copy-number variantAubry Furrow, Aaron Theisen, Lea Velsher, et al.Prenatal Diagnosis|January 27, 2024
Validation of low-pass genome sequencing for prenatal diagnosisChloe Mighton, Abdul Noor, Nicholas Watkins, et al.European Journal of Human Genetics : EJHG|March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, et al.Pageof 45