Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals
Kai Lee Yap(Northwestern University), Daniela del Gaudio(Baylor College of Medicine), Priscilla Kandikatla(University of Chicago), Diva D. De Leó-Crutchlow(Children's Hospital of Philadelphia), Paul Thornton(Cook Children's Medical Center), Declan Cody(Children's Health Ireland at Crumlin), Siri Atma W. Greeley(University of Chicago), Andrew C. Edmondson(Translational Therapeutics (United States)), George Jeha(Texas Children's Hospital), Lindsay C. Burrage(Baylor College of Medicine), Viswateja Nelakuditi(University of Chicago), Darrel Waggoner(University of Chicago), Pratik Shah, Aishwarya Devarajan(Boston Children's Hospital), Lisa Truong(Oregon State University), Amy E. Knight Johnson(University of Chicago), Andrea M. Lewis(Baylor College of Medicine), Jacea Deml(University of Chicago), Olaf A. Bodamer(Broad Institute), Sian Ellard(University of Exeter), Sara Halbach(University of Chicago), Soma Das(University of Chicago), David S. Fischer(Broad Institute), Alejandro Díaz(Nationwide Children's Hospital), Valeria C. Benavides(University of Illinois Urbana-Champaign)
Cited by 65
Related Papers
Squidpy: a scalable framework for spatial omics analysis
|Nature Methods|2022|1.1k
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
|Nature Genetics|2008|666
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
|European Journal of Pediatrics|2007|535