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Nature Genetics|May 30, 2017
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregationShawn Yost, Bas de Wolf, Sandra Hanks, et al.European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.JAMA|June 16, 2016
Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement, Kirsten Bibbins-Domingo, David C Grossman, et al.JAMA|August 18, 2016
Screening for Lipid Disorders in Children and Adolescents: US Preventive Services Task Force Recommendation Statement, Kirsten Bibbins-Domingo, David C Grossman, et al.Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.Pageof 16