Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

Author:

Crow Yanick J.12,Chase Diana S.2,Lowenstein Schmidt Johanna3,Szynkiewicz Marcin2,Forte Gabriella M.A.2,Gornall Hannah L.2,Oojageer Anthony2,Anderson Beverley2,Pizzino Amy3,Helman Guy3,Abdel-Hamid Mohamed S.4,Abdel-Salam Ghada M.5,Ackroyd Sam6,Aeby Alec7,Agosta Guillermo8,Albin Catherine9,Allon-Shalev Stavit1011,Arellano Montse12,Ariaudo Giada13,Aswani Vijay14,Babul-Hirji Riyana15,Baildam Eileen M.16,Bahi-Buisson Nadia17,Bailey Kathryn M.18,Barnerias Christine17,Barth Magalie19,Battini Roberta20,Beresford Michael W.21,Bernard Geneviève22,Bianchi Marika23,Billette de Villemeur Thierry242526,Blair Edward M.27,Bloom Miriam28,Burlina Alberto B.29,Luisa Carpanelli Maria30,Carvalho Daniel R.31,Castro-Gago Manuel32,Cavallini Anna33,Cereda Cristina23,Chandler Kate E.34,Chitayat David A.3536,Collins Abigail E.37,Sierra Corcoles Concepcion38,Cordeiro Nuno J.V.39,Crichiutti Giovanni40,Dabydeen Lyvia41,Dale Russell C.42,D′Arrigo Stefano43,De Goede Christian G.E.L.44,De Laet Corinne45,De Waele Liesbeth M.H.4647,Denzler Ines8,Desguerre Isabelle17,Devriendt Koenraad48,Di Rocco Maja49,Fahey Michael C.50,Fazzi Elisa51,Ferrie Colin D.52,Figueiredo António53,Gener Blanca54,Goizet Cyril55,Gowrinathan Nirmala R.56,Gowrishankar Kalpana57,Hanrahan Donncha58,Isidor Bertrand59,Kara Bülent60,Khan Nasaim34,King Mary D.61,Kirk Edwin P.62,Kumar Ram63,Lagae Lieven46,Landrieu Pierre64,Lauffer Heinz65,Laugel Vincent66,Piana Roberta La67,Lim Ming J.68,Lin Jean-Pierre S.-M.69,Linnankivi Tarja70,Mackay Mark T.71,Marom Daphna R.72,Marques Lourenço Charles73,McKee Shane A.74,Moroni Isabella43,Morton Jenny E.V.75,Moutard Marie-Laure24,Murray Kevin76,Nabbout Rima17,Nampoothiri Sheela77,Nunez-Enamorado Noemi78,Oades Patrick J.79,Olivieri Ivana80,Ostergaard John R.81,Pérez-Dueñas Belén82,Prendiville Julie S.83,Ramesh Venkateswaran84,Rasmussen Magnhild85,Régal Luc86,Ricci Federica87,Rio Marlène88,Rodriguez Diana242526,Roubertie Agathe89,Salvatici Elisabetta90,Segers Karin A.91,Sinha Gyanranjan P.92,Soler Doriette93,Spiegel Ronen1011,Stödberg Tommy I.94,Straussberg Rachel95,Swoboda Kathryn J.96,Suri Mohnish97,Tacke Uta98,Tan Tiong Y.99,te Water Naude Johann100,Wee Teik Keng101,Mary Thomas Maya102,Till Marianne103,Tonduti Davide1343,Maria Valente Enza104,Noel Van Coster Rudy105,van der Knaap Marjo S.106,Vassallo Grace107,Vijzelaar Raymon108,Vogt Julie75,Wallace Geoffrey B.109,Wassmer Evangeline110,Webb Hannah J.111,Whitehouse William P.112113,Whitney Robyn N.114,Zaki Maha S.5,Zuberi Sameer M.115116,Livingston John H.52,Rozenberg Flore117118,Lebon Pierre117,Vanderver Adeline3,Orcesi Simona80,Rice Gillian I.2

Affiliation:

1. INSERM UMR 1163; Laboratory of Neurogenetics and Neuroinflammation; Paris Descartes - Sorbonne Paris Cité University; Institut Imagine; Hôpital Necker; Paris France

2. Manchester Centre for Genomic Medicine; Institute of Human Development, Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre; University of Manchester; Manchester UK

3. Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine; Children's National Health System; Washington District of Columbia

4. Medical Molecular Genetics Department; Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

5. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

6. Department of Haematology; Bradford Royal Infirmary; Bradford UK

7. Départment de Neuropédiatrie; Hôpital Erasme-Université Libre de Bruxelles (ULB); Brussels Belgium

8. Child Neurology Division; Hospital Italiano de Buenos Aires; Beunos Aires Argentina

9. Department of Pediatric Neurology; Kaiser Permanente; Santa Clara California

10. The Genetic Institute; Emek Medical Center; Afula Israel

11. The Rappaport Faculty of Medicine; Technion; Haifa Israel

12. Department of Pediatric Neurology; Hospital Universitari Mutua Terrassa; Barcelona Spain

13. Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit; University of Pavia; Pavia Italy

14. Department of Internal Medicine and Pediatrics; Marshfield Clinic; Marshfield Massachusetts

15. Department of Molecular Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children; University of Toronto; Toronto Canada

16. Department of Paediatric Rheumatology; Alder Hey Children's National Health Service (NHS) Foundation Trust; Liverpool UK

17. Department of Paediatric Neurology; Hôpital Necker-Enfants Malades; AP-HP; Paris France

18. Department of Paediatrics; University Hospitals Coventry and Warwickshire; Coventry UK

19. Department of Genetics; CHU Angers; Angers France

20. Department of Developmental Neuroscience; IRCCS Stella Maris; Pisa Italy

21. Department of Women's and Children's Health; Institute of Translational Medicine; University of Liverpool; Liverpool UK

22. Departments of Pediatrics, Neurology and Neurosurgery; Division of Pediatric Neurology; Montreal Children's Hospital; McGill University Health Center; Montreal Canada

23. Laboratory of Experimental Neurobiology; C. Mondino National Neurological Institute; Pavia Italy

24. Sorbonne Universités; UPMC Univ Paris 06; Paris France

25. APHP; Department of Paediatric Neurology; Hopital Trousseau; Paris France

26. Inserm U1141; Paris France

27. Department of Clinical Genetics; Oxford University Hospitals NHS Trust; Oxford UK

28. Division of Hospitalist Medicine; George Washington University School of Medicine; Children's National Health System; Washington District of Columbia

29. Department of Pediatrics; Division of Inherited Metabolic Diseases; University Hospital; Padova Italy

30. Department of Child Neurology and Psychiatry; A Manzoni Hospital; Lecco Italy

31. Genetic Unit; SARAH Network of Rehabilitation Hospitals; Brasilia Brazil

32. Department of Pediatric Neurology; Hospital Clínico Universitario; University of Santiago de Compostela; Santiago de Compostela Spain

33. Neuropsychiatry and Neurorehabilitation Unit; Scientific Institute; IRCCS Eugenio Medea; Bosisio Parini Italy

34. Manchester Centre for Genomic Medicine; St Mary's Hospital; Manchester UK

35. The Prenatal Diagnosis and Medical Genetics Program; Department of Obstetrics and Gynecology; Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

36. Department of Paediatrics; Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; University of Toronto; Toronto Ontario Canada

37. Department of Pediatrics and Neurology; Children's Hospital Colorado; University of Colorado; Colorado

38. Department of Paediatric Neurology; Complejo Hospitalario Jaén; Jaén Spain

39. Department of Paediatrics; NHS Ayrshire & Arran; Irvine UK

40. Paediatric Department; Azienda Ospedaliera Universitaria di Udine; Udine Italy

41. Paediatric Neurology, Children's Department; University Hospitals of Leicester NHS Trust; Leicester UK

42. Institute for Neuroscience and Muscle Research; Children's Hospital at Westmead; University of Sydney; Sydney Australia

43. Child Neurology Department; IRCCS Foundation Istituto Neurologico C. Besta; Milan Italy

44. Department of Paediatric Neurology; Royal Preston Hospital; Preston UK

45. Nutrition and Metabolism Unit; Hôpital Universitaire des Enfants Reine Fabiola; Brussels Belgium

46. Department of Paediatric Neurology; University Hospitals Leuven; ku Leuven kulak Belgium

47. Department of Development and Regeneration; Leuven Belgium

48. Center for Human Genetics; University of Leuven; Leuven Belgium

49. Department of Pediatrics; Unit of Rare Diseases; Institute Gaslini; Genoa Italy

50. Department of Paediatrics; Monash University; Melbourne Australia

51. Department of Clinical and Experimental Sciences; Child Neurology and Psychiatry Unit; University of Brescia; Brescia Italy

52. Department of Paediatric Neurology; Leeds General Infirmary; Leeds UK

53. Department of Paediatrics; Hospital Professor Doutor Fernando Fonseca; EPE; Lisbon Portugal

54. Servicio de Genética; Hospital Universitario Cruces; BioCruces Health Research Institute; Baracaldo Spain

55. Department of Medical Genetics; CHU Bordeaux; Hopital Pellegrin; Bordeaux France

56. Department of Neurology; Kaiser Permanente; Los Angeles California

57. Department of Medical Genetics; Kanchi Kamakoti Child's Trust Hospital; Chennai India

58. Department of Paediatric Neurology; Royal Belfast Hospital for Sick Children; Belfast UK

59. Service de Génétique Médicale; CHU de Nantes; Nantes France

60. Department of Paediatric Neurology; Department of Pediatrics; Kocaeli University Medicine Faculty; Kocaeli Turkey

61. Department of Paediatric Neurology; Temple St Children's University Hospital; Dublin Eire

62. Department of Medical Genetics; Sydney Children's Hospital; Sydney Australia

63. Department of Paediatric Neurology; Alder Hey Children's NHS Foundation Trust; Liverpool UK

64. CHU Bicêtre; Le Kremlin-Bicêtre France

65. Department of Neuropediatrics; Children's Hospital; University of Greifswald; Greifswald Germany

66. Department of Paediatric Neurology; Strasbourg-Hautepierre University Hospital; Strasbourg France

67. Department of Neuroradiology; Montreal Neurological Institute and Hospital; McGill University; Montreal Canada

68. Department of Children's Neurosciences; Evelina London Children's Hospital; Kings Health Partners AHSC; London UK

69. General Neurology & Complex Motor Disorders Service; Evelina Children's Hospital; Guy's & St Thomas' NHS Foundation Trust; London UK

70. Department of Paediatric Neurology; Helsinki University Central Hospital; Children's Hospital; Helsinki Finland

71. Department of Paediatric Neurology; The Royal Children's Hospital; Melbourne Australia

72. Department of Paediatrics; Schneider Children's Medical Center of Israel; Petach-Tikva Israel

73. Neurogenetics Unit; Clinics Hospital of Ribeirão Preto; University of São Paulo; São Paulo Brazil

74. Department of Genetic Medicine; Belfast City Hospital; Belfast UK

75. West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham UK

76. Department of Rheumatology; Princess Margaret Hospital for Children; Perth Australia

77. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Centre; Cochin Kerala India

78. Department of Paediatric Neurology; 12 October University Hospital; Madrid Spain

79. Department of Child Health; Royal Devon & Exeter Foundation NHS Trust; Exeter UK

80. Child Neurology and Psychiatry Unit; C. Mondino National Neurological Institute; Pavia Italy

81. Department of Pediatrics; Centre for Rare Diseases; Aarhus University Hospital; Aarhus Denmark

82. Department of Paediatric Neurology; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

83. Department of Pediatric Dermatology; British Columbia's Children's Hospital; Vancouver British Columbia Canada

84. Department of Paediatric Neurology; Great Northern Children's Hospital; Newcastle upon Tyne UK

85. Women and Children's Division; Section for Child Neurology; Oslo University Hospital; Oslo Norway

86. Department of Pediatric Metabolic Disorders; University Hospital Leuven; Leuven Belgium

87. Department of Public Health and Pediatric Sciences; Child Neurology and Psychiatry Unit; Regina Margherita Children Hospital; Torino Italy

88. Service de Génétique; Hôpital Necker-Enfants Malades; AP-HP; Paris France

89. Neuropediatrie; Hopital Gui de Chauliac & INSERM U1051; Montpellier France

90. Department of Pediatrics; San Paolo Hospital; University of Milan; Milan Italy

91. Department of Human Genetics; Centre Hospitalier Universitaire de Liège; Liège Belgium

92. Department of Pediatrics; Manor Hospital; Walsall UK

93. Department of Paediatric Neurology; Mater Dei Hospital; Msida Malta

94. Department of Paediatric Neurology; Karolinska University Hospital; Stockholm Sweden

95. Schneider's Children Medical Center; Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

96. Neurology/Pediatric Motor Disorders Research Program; University of Utah School of Medicine; Salt Lake City

97. Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; City Hospital Campus; Nottingham UK

98. Department of Paediatric Neurology; University Children's Hospital; Basel Switzerland

99. Department of Paediatrics; Murdoch Children's Research Institute; Victorian Clinical Genetics Services; University of Melbourne; Melbourne Australia

100. Department of Child Health; University Hospital of Wales; Cardiff UK

101. Genetic Department; Hospital Kuala Lumpur; Kuala Lumpur Malaysia

102. Department of Neurological Sciences; Christian Medical College; Tamil Nadu India

103. Service de Génétique; GHE; Hospices Civils de Lyon; Lyon-Bron France

104. Mendel Laboratory; IRCCS Casa Sollievo della Sofferenza Institute; San Giovanni Rotondo Italy

105. Department of Pediatrics; Division of Pediatric Neurology; University Hospital Ghent; Ghent Belgium

106. Department of Paediatric Neurology; VU University Medical Center; Amsterdam The Netherlands

107. Department of Paediatric Neurology; Royal Manchester Children's Hospital; Manchester UK

108. MRC-Holland; Amsterdam The Netherlands

109. Department of Neuroscience; Mater Children's Hospital; Brisbane Australia

110. Department of Paediatric Neurology; Birmingham Children's Hospital; Birmingham UK

111. Child Development Centre; St Luke's Hospital; Bradford Teaching Hospitals NHS Trust; Bradford UK

112. Department of Paediatric Neurology; Nottingham University Hospitals NHS Trust; Nottingham UK

113. School of Medicine; University of Nottingham; Nottingham UK

114. Department of Pediatrics; Division of Pediatric Neurology; McMaster Children's Hospital; McMaster University; Ontario Canada

115. Paediatric Neurosciences Research Group; Fraser of Allander Neurosciences Unit; Glasgow UK

116. School of Medicine; College of Medical, Veterinary & Life Sciences; University of Glasgow; Glasgow UK

117. Service de Virologie; Université Paris Descartes; Inserm U1016; Paris France

118. AP-HP Hôpital Cochin; Paris France

Funder

European Union's Seventh Framework Programme

European Research Council

National Research Agency (France) under the “Investments for the Future” program

Parsons Family Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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