A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos R. Ferreira(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Andrew P. Jackson(Mercer University), Alvaro H. Serrano Russi(University of Southern California), Coleman Turgeon(Mayo Clinic), George E. Tiller(Kaiser Permanente), Fulya Taylan(Karolinska University Hospital), David R. Adams(National Human Genome Research Institute), Emma Tham(Karolinska University Hospital), Michael Tiemeyer(University of Georgia), Bobby G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Zöe Powis(Quest Diagnostics (United Kingdom)), Kimiyo Raymond(Mayo Clinic in Arizona), Tara Weixel(Kent State University), David Parry(AstraZeneca (United Kingdom)), Clare V. Logan(University of Leeds), Aurélie Clément(University of Oregon), Lauren Brick(McMaster University), Gen Nishimura(Musashino University), William G. Wilson, Hanne Hove(Rigshospitalet), Giedré Grigelioniené(Karolinska University Hospital), Cynthia J. Tifft(Children's National), Melissa Gabriel(University of Southern California), Mariska Davids, Kazuhiro Aoki(University of Georgia), Tito Onyekweli(National Institutes of Health), May Christine V. Malicdan(National Institutes of Health), Dawn Earl(Seattle Children's Hospital), Heiko Bratke(Privatsykehuset Haugesund), Ganka Douglas, Zhi‐Jie Xia(Nanjing University of Posts and Telecommunications), Anna Hammarsjö(Karolinska University Hospital), Daniel R. Carvalho(Areté Associates (United States)), Megan T. Cho, Ann Nordgren(Karolinska University Hospital), Lynne A. Wolfe(National Institutes of Health), Angela L. Duker(Children's Hospital of Michigan), Marte G. Haug(St Olav's University Hospital), Luis Rohena(Brooke Army Medical Center), Mariya Kozenko(McMaster University), Benjamin D. Solomon(National Human Genome Research Institute), Rizwan Hamid(Vanderbilt University Medical Center), Jennifer B. Phillips(University of Oregon), Prashant Sharma(National Human Genome Research Institute), Jakob Ek(Copenhagen University Hospital), Jeremy Wegner(University of Oregon), Bernardo Blanco‐Sánchez, Kelly Radtke(Ambry Genetics (United States)), Ellen F. Macnamara(National Human Genome Research Institute)
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