Patricia Robbins‐Furman
Baylor College of Medicine(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Congenital Ear and Nasal Anomalies
Most-Cited Works
- → Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype(2007)426 cited
- → Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS(2010)98 cited
- → SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction(2011)73 cited
- → Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive(2010)50 cited
- → Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing?(2008)40 cited
- → Cardiovascular findings in duplication 17p11.2 syndrome(2012)39 cited
- → Clinical correlates of pain with amniocentesis(2004)33 cited
- → Racial‐Ethnic Differences in Genetic Amniocentesis Uptake(2005)32 cited
- → Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty(2009)26 cited
- → Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)(1995)24 cited