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Journal of Medical Genetics|October 17, 2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathyAnnalisa G Sega, Emily K Mis, Kristin Lindstrom, et al.
Molecular Genetics and Metabolism|December 24, 2023
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuriaBarbara K Burton, Gillian E Clague, Cary O Harding, et al.
Molecular Genetics and Metabolism Reports|May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial programCary O Harding, Nicola Longo, Hope Northrup, et al.
Molecular Genetics and Metabolism|December 3, 2023
Best practice recommendations for the management of anxiety during the pegvaliase journeyKendra J Bjoraker, Caroline Eggerding, Elisheva Ellenberg, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
Journal of Inherited Metabolic Disease|March 4, 2024
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registriesFrançois Feillet, Can Ficicioglu, Florian B Lagler, et al.
Molecular Genetics and Metabolism Reports|August 25, 2021
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinicsDarius Adams, Hans C Andersson, Heather Bausell, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
Kidney International|April 22, 2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesJung-Hyun Kim, Eun Young Park, David Chitayat, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
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