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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams, Lloyd B; Javed, Asif; Sabri, Amin; Morgan, Denise J; Huff, Chad D; Grigg, John R; Heng, Xiu Ting; Khng, Alexis J; Hollink, Iris H I M; Morrison, Margaux A; Owen, Leah A; Anderson, Katherine; Kinard, Krista; Greenlees, Rebecca; Novacic, Danica; Nida Sen, H; Zein, Wadih M; Rodgers, George M; Vitale, Albert T; Haider, Neena B; Hillmer, Axel M; Ng, Pauline C; Cheng, Anson; Zheng, Linda; Gillies, Mark C; van Slegtenhorst, Marjon; van Hagen, P Martin; Missotten, Tom O A R; Farley, Gary L; Polo, Michael; Malatack, James; Curtin, Julie; Martin, Frank; Arbuckle, Susan; Alexander, Stephen I; Chircop, Megan; Davila, Sonia; Digre, Kathleen B; Jamieson, Robyn V; DeAngelis, Margaret M.
Affiliation
  • Williams LB; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Javed A; Genome Institute of Singapore, Singapore, Singapore.
  • Sabri A; School of Biomedical Sciences, The University of Hong Kong, Hong Kong, Hong Kong.
  • Morgan DJ; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
  • Huff CD; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Grigg JR; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Heng XT; Department of Epidemiology, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Khng AJ; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
  • Hollink IHIM; Discipline of Ophthalmology, University of Sydney, Sydney, NSW, Australia.
  • Morrison MA; Genome Institute of Singapore, Singapore, Singapore.
  • Owen LA; Genome Institute of Singapore, Singapore, Singapore.
  • Anderson K; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Kinard K; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Greenlees R; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Novacic D; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.
  • Nida Sen H; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Zein WM; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
  • Rodgers GM; National Institutes of Health, National Human Genome Research Institute, Undiagnosed Diseases Network, Bethesda, MD, USA.
  • Vitale AT; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Haider NB; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Hillmer AM; Department of Hematology, Utah Health Sciences Center, Salt Lake City, UT, USA.
  • Ng PC; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Shankaracharya; Department of Ophthalmology, Schepens Eye Research Institute/Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
  • Cheng A; Genome Institute of Singapore, Singapore, Singapore.
  • Zheng L; Genome Institute of Singapore, Singapore, Singapore.
  • Gillies MC; Department of Epidemiology, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • van Slegtenhorst M; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
  • van Hagen PM; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
  • Missotten TOAR; Discipline of Ophthalmology, University of Sydney, Sydney, NSW, Australia.
  • Farley GL; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Polo M; Department of Immunology, Erasmus MC, Rotterdam, The Netherlands.
  • Malatack J; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Curtin J; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.
  • Martin F; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.
  • Arbuckle S; Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.
  • Alexander SI; Department of Haematology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Chircop M; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Davila S; Department of Pathology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Digre KB; Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Jamieson RV; Cell Cycle Unit, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.
  • DeAngelis MM; Genome Institute of Singapore, Singapore, Singapore.
Genet Med ; 21(9): 2103-2115, 2019 09.
Article in En | MEDLINE | ID: mdl-30967659
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Nerve / Protein Kinases / Retina / Retinal Dystrophies Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Nerve / Protein Kinases / Retina / Retinal Dystrophies Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United States