Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Bobby G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Lynne A. Wolfe(National Institutes of Health), Colleen E. McCormack(Stanford University), Leah J. Rowe(University of Colorado Anschutz Medical Campus), Kimberly Houck(Baylor College of Medicine), Richard Webster(Children's Hospital at Westmead), Wendy K. Chung(Oregon Health & Science University), Timothy Blake Palculict, Rhonda E. Schnur(Cooper Medical School of Rowan University), Allysa Tuite(Rutgers, The State University of New Jersey), Marıá Mercedes Villanueva, Raymond Wang(Children's Hospital of Orange County), Fiona Gardiner(University of Antwerp), Carla Asteggiano(Universidad Católica de Córdoba), Dorcas Wilson(Nelson Mandela Academic Hospital), Austin Larson(Children's Hospital Colorado), Ingrid E. Scheffer(The University of Melbourne), Gabriela M. Papazoglu(Consejo Nacional de Investigaciones Científicas y Técnicas), John Christodoulou(The University of Melbourne), Beth A. Pletcher(Rutgers, The State University of New Jersey), W. Graf(University of Missouri–Kansas City), Shabeed Chelakkadan(Monash Children’s Hospital), George Hoganson(Javon Bea Hospital-Rockton), Mary‐Alice Abbott(Baystate Medical Center), Michael A. Ciliberto(University of Iowa Hospitals and Clinics), Natalie Hauser(Inova Fairfax Hospital), Rebecca L. Miller(Inova Fairfax Hospital), Michael J. Bamshad(University of Washington), Farouq Thabet(Mercy Medical Center), Katherine Hammond(University of Alabama at Birmingham), Erik A. Eklund(Lund University), Eileen Barr(Emory University), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Alice Zalan(University of Illinois Hospital & Health Sciences System), Naomi Meeks(University of Colorado Denver), Rossana Sanchez Russo(Emory University), Janice Cousin(National Human Genome Research Institute), Sergey A. Shiryaev(Sanford Burnham Prebys Medical Discovery Institute), Sujana Madathil(University of Iowa Hospitals and Clinics), Yin Yao Dong(University of Oxford), Pengfei Liu(Macau University of Science and Technology), Kristin G. Monaghan, Jonathan A. Bernstein(Stanford Medicine), Suman Ghosh(University of Florida), Yue Si, Deborah A. Nickerson(University of Washington), Jennefer N. Kohler(Stanford University), Alvaro H. Serrano Russi(University of Southern California), Andrea Schenone(Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia), Stephanie Grünewald(Great Ormond Street Hospital)
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