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Case Reports in Genetics|December 25, 2019
Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features"Jacquelyn D Riley, Catherine M Stefaniuk, Francine Erenberg, et al.Case Reports in Endocrinology|January 24, 2014
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathySasigarn A Bowden, Corin Cozzi, Scott E Hickey, et al.International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists|February 12, 2019
Uterine Inflammatory Myofibroblastic Tumor Showing an Atypical ALK Signal Pattern by FISH and DES-ALK Fusion by RNA Sequencing: A Case ReportShabnam Zarei, Fadi W Abdul-Karim, Dana M Chase, et al.European Journal of Medical Genetics|October 9, 2016
A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotypeMariana Kekis, Sayaka Hashimoto, Carol Deeg, et al.Journal of the American Medical Informatics Association : JAMIA|May 24, 2017
Clinical exome sequencing reports: current informatics practice and future opportunitiesRajeswari Swaminathan, Yungui Huang, Caroline Astbury, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2014
Reporting genomic secondary findings: ACMG members weigh inMaren T Scheuner, Jane Peredo, Judith Benkendorf, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2004
Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalitiesCaroline Astbury, Laurie A Christ, David J Aughton, et al.European Journal of Medical Genetics|July 31, 2013
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletionScott E Hickey, Sawona Biswas, Devon Lamb Thrush, et al.Journal of Cutaneous Pathology|September 9, 2020
EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and reviewOmar Habeeb, Katelen E Korty, Elizabeth M Azzato, et al.Molecular Genetics & Genomic Medicine|March 25, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnosticsLauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, et al.Pageof 6