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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Carrier testing for spinal muscular atrophyJonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, et al.
Genetics, Selection, Evolution : GSE|December 7, 2007
Analysis of a simulated microarray dataset: comparison of methods for data normalisation and detection of differential expression (open access publication)Michael Watson, Mónica Pérez-Alegre, Michael Denis Baron, et al.
Molecular Genetics and Metabolism|October 31, 2023
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelJennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Cell Stem Cell|October 6, 2023
Human pallial MGE-type GABAergic interneuron cell therapy for chronic focal epilepsyMarina Bershteyn, Sonja Bröer, Mansi Parekh, et al.
Neuron|July 12, 2025
Human stem cell-derived GABAergic interneuron development reveals early emergence of subtype diversity and gradual electrochemical maturationMarina Bershteyn, Hongjun Zhou, Luis Fuentealba, et al.
Genetics, Selection, Evolution : GSE|December 7, 2007
Analysis of the real EADGENE data set: multivariate approaches and post analysis (open access publication)Peter Sørensen, Agnès Bonnet, Bart Buitenhuis, et al.
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