language |
eng
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Author |
Salpietro Vincenzo
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Dixon Christine L.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Guo Hui
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Bello Oscar D.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Vandrovcova Jana
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Efthymiou Stephanie
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Maroofian Reza
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Heimer Gali
Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Burglen Lydie
Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France
Valence Stephanie
Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France
Torti Erin
GeneDx, Gaithersburg, MD, 20877, USA
Hacke Moritz
Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany
Rankin Julia
Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK
Tariq Huma
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Colin Estelle
Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Procaccio Vincent
Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Striano Pasquale
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Mankad Kshitij
Great Ormond Street Hospital for Children, London, WC1N 3JH, UK
Lieb Andreas
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Chen Sharon
Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA
Pisani Laura
Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA
Bettencourt Conceicao
Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK
Mannikko Roope
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Manole Andreea
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Brusco Alfredo
Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy
Grosso Enrico
Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy
Ferrero Giovanni Battista
Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy
Armstrong-Moron Judith
Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain
Gueden Sophie
Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France
Bar-Yosef Omer
Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Tzadok Michal
Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Monaghan Kristin G.
GeneDx, Gaithersburg, MD, 20877, USA
Santiago-Sim Teresa
GeneDx, Gaithersburg, MD, 20877, USA
Person Richard E.
GeneDx, Gaithersburg, MD, 20877, USA
Cho Megan T.
GeneDx, Gaithersburg, MD, 20877, USA
Willaert Rebecca
GeneDx, Gaithersburg, MD, 20877, USA
Yoo Yongjin
Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea
Chae Jong-Hee
Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea
Quan Yingting
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Wu Huidan
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Wang Tianyun
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Bernier Raphael A.
Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA
Xia Kun
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Blesson Alyssa
Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA
Jain Mahim
Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA
Motazacker Mohammad M.
Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands
Jaeger Bregje
Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands
Schneider Amy L.
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Boysen Katja
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Muir Alison M.
Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA
Myers Candace T.
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA
Gavrilova Ralitza H.
Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Gunderson Lauren
Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Schultz-Rogers Laura
Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Klee Eric W.
Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Dyment David
Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada
Osmond Matthew
Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada
Parellada Mara
Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain
Llorente Cloe
Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain
Gonzalez-Penas Javier
Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain
Carracedo Angel
Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain
Van Haeringen Arie
Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands
Ruivenkamp Claudia
Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands
Nava Caroline
Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Heron Delphine
Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Nardello Rosaria
Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities “G. D’Alessandro”, University of Palermo, 90133, Palermo, Italy
Iacomino Michele
Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy
Minetti Carlo
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Skabar Aldo
Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy
Fabretto Antonella
Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy
Chez Michael
Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA
Tsai Anne
Department of Genetics and Inherited Metabolic diseases, Children’s Hospital Colorado, Aurora, CO, 80045, USA
Fassi Emily
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA
Shinawi Marwan
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA
Constantino John N.
William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA
De Zorzi Rita
Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy
Fortuna Sara
Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy
Kok Fernando
Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil
Keren Boris
Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Bonneau Dominique
Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Choi Murim
Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea
Benzeev Bruria
Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Zara Federico
Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy
Mefford Heather C.
Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA
Scheffer Ingrid E.
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Clayton-Smith Jill
Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK
Macaya Alfons
Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain
Rothman James E.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA
Eichler Evan E.
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA
Kullmann Dimitri M.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Houlden Henry
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Raspall-Chaure Miquel
Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain
Hanna Michael G.
SYNAPS Study Group
Bugiardini Enrico
SYNAPS Study Group
Hostettler Isabel
SYNAPS Study Group
O'Callaghan Benjamin
SYNAPS Study Group
Khan Alaa
SYNAPS Study Group
Cortese Andrea
SYNAPS Study Group
O'Connor Emer
SYNAPS Study Group
Yau Wai Y.
SYNAPS Study Group
Bourinaris Thomas
SYNAPS Study Group
Kaiyrzhanov Rauan
SYNAPS Study Group
Chelban Viorica
SYNAPS Study Group
Madej Monika
SYNAPS Study Group
Diana Maria C.
SYNAPS Study Group
Vari Maria S.
SYNAPS Study Group
Pedemonte Marina
SYNAPS Study Group
Bruno Claudio
SYNAPS Study Group
Balagura Ganna
SYNAPS Study Group
Scala Marcello
SYNAPS Study Group
Fiorillo Chiara
SYNAPS Study Group
Nobili Lino
SYNAPS Study Group
Malintan Nancy T.
SYNAPS Study Group
Zanetti Maria N.
SYNAPS Study Group
Krishnakumar Shyam S.
SYNAPS Study Group
Lignani Gabriele
SYNAPS Study Group
Jepson James E. C.
SYNAPS Study Group
Broda Paolo
SYNAPS Study Group
Baldassari Simona
SYNAPS Study Group
Rossi Pia
SYNAPS Study Group
Fruscione Floriana
SYNAPS Study Group
Madia Francesca
SYNAPS Study Group
Traverso Monica
SYNAPS Study Group
De-Marco Patrizia
SYNAPS Study Group
Perez-Duenas Belen
SYNAPS Study Group
Munell Francina
SYNAPS Study Group
Kriouile Yamna
SYNAPS Study Group
El-Khorassani Mohamed
SYNAPS Study Group
Karashova Blagovesta
SYNAPS Study Group
Avdjieva Daniela
SYNAPS Study Group
Kathom Hadil
SYNAPS Study Group
Tincheva Radka
SYNAPS Study Group
Van-Maldergem Lionel
SYNAPS Study Group
Nachbauer Wolfgang
SYNAPS Study Group
Boesch Sylvia
SYNAPS Study Group
Gagliano Antonella
SYNAPS Study Group
Amadori Elisabetta
SYNAPS Study Group
Goraya Jatinder S.
SYNAPS Study Group
Sultan Tipu
SYNAPS Study Group
Kirmani Salman
SYNAPS Study Group
Ibrahim Shahnaz
SYNAPS Study Group
Jan Farida
SYNAPS Study Group
Mine, Jun
Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane, 6938501, Japan
Banu Selina
SYNAPS Study Group
Veggiotti Pierangelo
SYNAPS Study Group
Zuccotti Gian V
SYNAPS Study Group
Ferrari Michel D.
SYNAPS Study Group
Van Den Maagdenberg Arn M. J.
SYNAPS Study Group
Verrotti Alberto
SYNAPS Study Group
Marseglia Gian L.
SYNAPS Study Group
Savasta Salvatore
SYNAPS Study Group
Soler Miguel A.
SYNAPS Study Group
Scuderi Carmela
SYNAPS Study Group
Borgione Eugenia
SYNAPS Study Group
Chimenz Roberto
SYNAPS Study Group
Gitto Eloisa
SYNAPS Study Group
Dipasquale Valeria
SYNAPS Study Group
Sallemi Alessia
SYNAPS Study Group
Fusco Monica
SYNAPS Study Group
Cuppari Caterina
SYNAPS Study Group
Cutrupi Maria C.
SYNAPS Study Group
Ruggieri Martino
SYNAPS Study Group
Cama Armando
SYNAPS Study Group
Capra Valeria
SYNAPS Study Group
Mencacci Niccolo E.
SYNAPS Study Group
Boles Richard
SYNAPS Study Group
Gupta Neerja
SYNAPS Study Group
Kabra Madhulika
SYNAPS Study Group
Papacostas Savvas
SYNAPS Study Group
Zamba-Papanicolaou Eleni
SYNAPS Study Group
Dardiotis Efthymios
SYNAPS Study Group
Maqbool Shazia
SYNAPS Study Group
Rana Nuzhat
SYNAPS Study Group
Atawneh Osama
SYNAPS Study Group
Lim Shen Y.
SYNAPS Study Group
Shaikh Farooq
SYNAPS Study Group
Koutsis George
SYNAPS Study Group
Breza Marianthi
SYNAPS Study Group
Coviello Domenico A.
SYNAPS Study Group
Dauvilliers Yves A.
SYNAPS Study Group
AlKhawaja Issam
SYNAPS Study Group
AlKhawaja Mariam
SYNAPS Study Group
Al-Mutairi Fuad
SYNAPS Study Group
Stojkovic Tanya
SYNAPS Study Group
Ferrucci Veronica
SYNAPS Study Group
Zollo Massimo
SYNAPS Study Group
Alkuraya Fowzan S.
SYNAPS Study Group
Kinali Maria
SYNAPS Study Group
Sherifa Hamed
SYNAPS Study Group
Benrhouma Hanene
SYNAPS Study Group
Turki Ilhem B. Y.
SYNAPS Study Group
Tazir Meriem
SYNAPS Study Group
Obeid Makram
SYNAPS Study Group
Bakhtadze Sophia
SYNAPS Study Group
Saadi Nebal W.
SYNAPS Study Group
Zaki Maha S.
SYNAPS Study Group
Triki Chahnez C.
SYNAPS Study Group
Benfenati Fabio
SYNAPS Study Group
Gustincich Stefano
SYNAPS Study Group
Kara Majdi
SYNAPS Study Group
Belcastro Vincenzo
SYNAPS Study Group
Specchio Nicola
SYNAPS Study Group
Capovilla Giuseppe
SYNAPS Study Group
Karimiani Ehsan G.
SYNAPS Study Group
Salih Ahmed M.
SYNAPS Study Group
Okubadejo Njideka U.
SYNAPS Study Group
Ojo Oluwadamilola O.
SYNAPS Study Group
Oshinaike Olajumoke O.
SYNAPS Study Group
Oguntunde Olapeju
SYNAPS Study Group
Wahab Kolawole
SYNAPS Study Group
Bello Abiodun H.
SYNAPS Study Group
Abubakar Sanni
SYNAPS Study Group
Obiabo Yahaya
SYNAPS Study Group
Nwazor Ernest
SYNAPS Study Group
Ekenze Oluchi
SYNAPS Study Group
Williams Uduak
SYNAPS Study Group
Iyagba Alagoma
SYNAPS Study Group
Taiwo Lolade
SYNAPS Study Group
Komolafe Morenikeji
SYNAPS Study Group
Senkevich Konstantin
SYNAPS Study Group
Shashkin Chingiz
SYNAPS Study Group
Zharkynbekova Nazira
SYNAPS Study Group
Koneyev Kairgali
SYNAPS Study Group
Manizha Ganieva
SYNAPS Study Group
Isrofilov Maksud
SYNAPS Study Group
Guliyeva Ulviyya
SYNAPS Study Group
Salayev Kamran
SYNAPS Study Group
Khachatryan Samson
SYNAPS Study Group
Rossi Salvatore
SYNAPS Study Group
Silvestri Gabriella
SYNAPS Study Group
Haridy Nourelhoda
SYNAPS Study Group
Ramenghi Luca A.
SYNAPS Study Group
Xiromerisiou Georgia
SYNAPS Study Group
David Emanuele
SYNAPS Study Group
Aguennouz Mhammed
SYNAPS Study Group
Fidani Liana
SYNAPS Study Group
Spanaki Cleanthe
SYNAPS Study Group
Tucci Arianna
SYNAPS Study Group
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Journal Title |
NATURE COMMUNICATIONS
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Volume | 10
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ISSN | 2041-1723
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Published Date | 2019-07-12
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DOI | |
PubMed ID | |
Publisher | NATURE PUBLISHING GROUP
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NII Type |
Journal Article
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OAI-PMH Set |
Faculty of Medicine
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Remark | We gratefully acknowledge all the families for their enthusiastic participation to this study. Further acknowledgements can be found in Supplementary Note 29. This study was supported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children's Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union's Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.) and the US National Institutes of Health (NIH grant R01MH101221 to E.E.E). E.E.E. is an investigator of the Howard Hughes Medical Institute. We acknowledge the CINECA Awards N. HP10BTJPER, 2017 (to SF), for the availability of high performance computing resources and support. We are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). We are grateful to M. Farrant and S. Cull-Candy for helpful suggestions and the stargazin plasmid. We also acknowledge the University of Washington Center for Mendelian Genomics.
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