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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries, Lauren; Mis, Emily K; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B; Banka, Siddharth; Chao, Katherine R; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K; Bönnemann, Carsten G; Lucas, Carrie L; Lakhani, Saquib A.
Affiliation
  • Jeffries L; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.
  • Mis EK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.
  • McWalter K; GeneDx, Gaithersburg, MD.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Brodsky NN; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.
  • Carpier JM; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.
  • Ji W; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.
  • Ionita C; Yale University School of Medicine, Department of Pediatrics, New Haven, CT.
  • Roy B; Yale University School of Medicine, Department of Neurology, New Haven, CT.
  • Morrow JS; Yale University School of Medicine, Department of Pathology, New Haven, CT.
  • Darbinyan A; Yale University School of Medicine, Department of Pathology, New Haven, CT.
  • Iyer K; Yale University School of Medicine, Department of Pathology, New Haven, CT.
  • Aul RB; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.
  • Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manch
  • Chao KR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Cobbold L; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.
  • Cohen S; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.
  • Custodio HM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.
  • Drummond-Borg M; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.
  • Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.
  • Finanger E; Oregon Health & Science University, Portland, OR.
  • Hainline BE; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.
  • Helbig I; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.
  • Hewson S; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manch
  • Josifova D; Guys and St Thomas NHS Trust, Clinical Genetics, London, United Kingdom.
  • Konstantino M; Yale Pediatric Genomics Discovery Program, New Haven, CT.
  • Leach ME; Oregon Health & Science University, Portland, OR.
  • Mak B; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; Current affiliation: Genome Medical, South San Francisco, CA.
  • McCormick D; King's College Hospital, Paediatric Neurosciences, London, United Kingdom.
  • McGee E; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.
  • Nelson S; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.
  • Nguyen J; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.
  • Nugent K; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX; Current affiliation: Cooper Surgical, Trumbull, CT.
  • Ortega L; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.
  • Goodkin HP; University of Virginia School of Medicine, Charlottesville, VA.
  • Roeder E; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX.
  • Roy S; Cook Children's Medical Center, Division of Endocrinology and Diabetes, Fort Worth, TX.
  • Sapp K; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.
  • Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Current affiliation: University of Iowa Carver College of Medicine, Iowa City, IA.
  • Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.
  • Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter, United Kingdom.
  • Towner S; University of Virginia School of Medicine, Charlottesville, VA.
  • Wilson W; University of Virginia School of Medicine, Charlottesville, VA.
  • Khokha MK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Genetics, New Haven, CT.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Lucas CL; Yale Pediatric Genomics Discovery Program, New Haven, CT; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Lakhani SA; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT. Electronic address: saquib.lakhani@yale.edu.
Genet Med ; 26(2): 101023, 2024 Feb.
Article in En | MEDLINE | ID: mdl-37947183
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Reinfection Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Reinfection Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Country of publication: