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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2003
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]Lorraine Potocki, Christine J Shaw, Pawel Stankiewicz, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|February 6, 2004
Trisomy 14 mosaicism: a case report and review of the literatureM Fran Lynch, Caraciolo J Fernandes, Lisa G Shaffer, et al.American Journal of Medical Genetics. Part A|July 26, 2019
Objective measures of sleep disturbances in children with Potocki-Lupski syndromeKevin Kaplan, Caroline McCool, James R Lupski, et al.American Journal of Medical Genetics. Part A|February 14, 2009
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomaliesShay Ben-Shachar, Bhattacharjee M Bidwa, Lorraine Potocki, et al.American Journal of Medical Genetics. Part A|November 22, 2016
Novel EED mutation in patient with Weaver syndromeErin Cooney, Weimin Bi, Alan E Schlesinger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Enhancing exposure to genetics and genomics through an innovative medical school curriculumShweta U Dhar, Raye L Alford, Elizabeth A Nelson, et al.Pediatric Radiology|March 4, 2003
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysisAlan E Schlesinger, Lorraine Potocki, Andrew K Poznanski, et al.Case Reports in Genetics|August 5, 2025
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case ReportDavid Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, et al.American Journal of Medical Genetics. Part A|May 9, 2019
Arnold-Chiari type 1 malformation in Potocki-Lupski syndromeAlberto Varon, Zachary Whitt, Paige M Kalika, et al.Journal of Pediatric Genetics|November 6, 2019
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual DisabilityElizabeth Thomas, Andrea M Lewis, Yaping Yang, et al.Pageof 9