A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos R. Ferreira(National Institutes of Health), Zhi‐Jie Xia(Sanford Burnham Prebys Medical Discovery Institute), Aurélie Clément(University of Oregon), David Parry(Institute of Genetics and Cancer), Mariska Davids(National Institutes of Health), Fulya Taylan(Karolinska Institutet), Prashant Sharma(National Institutes of Health), Coleman Turgeon(Mayo Clinic), Bernardo Blanco‐Sánchez(University of Oregon), Bobby G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Clare V. Logan(Institute of Genetics and Cancer), Lynne A. Wolfe(National Institutes of Health), Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho(Sarah Network of Rehabilitation Hospitals), Heiko Bratke(Privatsykehuset Haugesund), Marte G. Haug(St Olav's University Hospital), Jennifer B. Phillips(University of Oregon), Jeremy Wegner(University of Oregon), Michael Tiemeyer(University of Georgia), Kazuhiro Aoki(University of Georgia), Ann Nordgren(Karolinska University Hospital), Anna Hammarsjö(Karolinska University Hospital), Angela L. Duker(Community Health Systems - Dupont Hospital), Luis Rohena(Brooke Army Medical Center), Hanne Hove(Rigshospitalet), Jakob Ek(Rigshospitalet), David R. Adams(National Institutes of Health), Cynthia J. Tifft(National Institutes of Health), Tito Onyekweli(National Institutes of Health), Tara Weixel(National Institutes of Health), Ellen F. Macnamara(National Institutes of Health), Kelly Radtke(Ambry Genetics (United States)), Zöe Powis(Ambry Genetics (United States)), Dawn Earl(Seattle Children's Hospital), Melissa Gabriel(University of Southern California), Alvaro H. Serrano Russi(University of Southern California), Lauren Brick(McMaster Children's Hospital), Mariya Kozenko(McMaster Children's Hospital), Emma Tham(Karolinska University Hospital), Kimiyo Raymond(Mayo Clinic), John A. Phillips(University of Oregon), George E. Tiller(Kaiser Permanente), William G. Wilson(University of Virginia Health System), Rizwan Hamid(Vanderbilt University Medical Center), May Christine V. Malicdan(National Institutes of Health), Gen Nishimura(Saitama Medical University Hospital), Giedré Grigelioniené(Karolinska University Hospital), Andrew P. Jackson(Institute of Genetics and Cancer), Monte Westerfield(University of Oregon), Michael B. Bober(Community Health Systems - Dupont Hospital), William A. Gahl(National Institutes of Health), Hudson H. Freeze(Sanford Burnham Prebys Medical Discovery Institute)
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