P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants

• David Curtis,
• Daryl Scott,
• Seema Lalani,
• Mahshid Azamian,
• Kierstin Keller,
• Alanna Strong,
• Joseph Shen,
• Colette DeFilippo,
• Himanshu Goel,
• Betsy Schmalz,
• Bimal Chaudhari,
• Shelagh Joss,
• Muge Gucsavas-Calikoglu,
• Yael Shiloh-Malawsky,
• Yezmin Perilla-Young,
• Olivia Thompson,
• Neena Champaigne,
• Luigi Chiratti,
• Marco Ferilli,
• Marco Tartaglia,
• Manuela Priolo,
• Radio Clementina,
• Christelle Achkar,
• Koen Gassen,
• Marie-José van den Boogard,
• Tony Roscioli,
• Kim McBride,
• Julie Lauzon,
• Hannes Syryn,
• Martine Cools,
• Elfride De Baere,
• Victor Faundes,
• Gabriela Repetto,
• Sarah Josephi-Taylor,
• Adam Bournazos,
• Sandra Cooper,
• Nichole Owen,
• Xiaonan Zhao

Affiliations

David Curtis

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Daryl Scott

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Seema Lalani

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Mahshid Azamian

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Kierstin Keller

Center for Mitochondria and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA

Alanna Strong

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA

Joseph Shen

Division of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CA

Colette DeFilippo

Division of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CA

Himanshu Goel

School of Medicine and Public Health, University of Newcastle, Callaghan, NSW

Betsy Schmalz

Division of Genetics and Genomic Medicine, Nationwide Children's Hospital

Bimal Chaudhari

Department of Pediatrics, The Ohio State University College of Medicine

Shelagh Joss

West of Scotland Centre for Genomic Medicine, Glasgow, UK

Muge Gucsavas-Calikoglu

Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel Hill

Yael Shiloh-Malawsky

Department of Neurology University of North Carolina at Chapel Hill, School of Medicine, Chapel Hill

Yezmin Perilla-Young

Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel Hill

Olivia Thompson

Division of Pediatric Genetics, Medical University of South Carolina, Charleston, SC

Neena Champaigne

Division of Pediatric Genetics, Medical University of South Carolina, Charleston, SC

Luigi Chiratti

USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria

Marco Ferilli

Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo

Marco Tartaglia

Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo

Manuela Priolo

Medical Genetics, AORM “A. Cardarelli”, Naples, Italy

Radio Clementina

Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo

Christelle Achkar

Epilepsy Genetics Program/Division of Epilepsy and Clinical Neurophysiology, Department of Neurology

Koen Gassen

Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

Marie-José van den Boogard

Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

Tony Roscioli

Prince of Wales Clinical School, Faculty of Medicine & Health, University of New South Wales, Sydney

Kim McBride

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, Section of Genetics

Julie Lauzon

Alberta Children's Hospital, Calgary Alberta, Canada

Hannes Syryn

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium

Martine Cools

Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

Elfride De Baere

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium

Victor Faundes

Laboratorio de Genetica y Enfermedades Metabolicas, Instituto de Nutricion y Tecnologia de los Alime

Gabriela Repetto

Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine

Sarah Josephi-Taylor

Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals, Network

Adam Bournazos

Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia

Sandra Cooper

Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia

Nichole Owen

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Xiaonan Zhao

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX