Patricia Robbins‐Furman

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering et al. · The American Journal of Human Genetics · 2007 · 428 citations

Medicine, Neurobiology, Neuroscience +7

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson et al. · The American Journal of Human Genetics · 2010 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

<i>SMAD4</i> mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

Sara Andrabi, Mir Reza Bekheirnia, Patricia Robbins‐Furman et al. · American Journal of Medical Genetics Part A · 2011 · 74 citations

Life Sciences, Genetics, Molecular Genetics +14

Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

Claudia Soler‐Alfonso, Kathleen J. Motil, Catherine L. Turk et al. · The Journal of Pediatrics · 2010 · 50 citations

Health Professions, Neurology, Otolaryngology +13

Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing?

Jennifer Hoskovec, Joan Mastrobattista, Dennis A. Johnston et al. · Prenatal Diagnosis · 2008 · 41 citations

Medicine, Obstetrics, Psychology +16