The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder-Reference-Cited by-同舟云学术

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Published:2021-12-11 Issue:2 Volume:43 Page:266-282
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kumble Smitha¹,Levy Amanda M.²,Punetha Jaya³⁴,Gao Hua⁵,Ah Mew Nicholas⁶,Anyane‐Yeboa Kwame⁷,Benke Paul J.⁸,Berger Sara M.⁷,Bjerglund Lise⁹,Campos‐Xavier Belinda¹⁰¹¹,Ciliberto Michael¹²,Cohen Julie S.¹³¹⁴,Comi Anne M.¹³¹⁵,Curry Cynthia¹⁶,Damaj Lena¹⁷,Denommé‐Pichon Anne‐Sophie¹⁸¹⁹^ORCID,Emrick Lisa³²⁰,Faivre Laurence²¹²²,Fasano Mary Beth²³,Fiévet Alice²⁴²⁵^ORCID,Finkel Richard S.²⁶²⁷,García‐Miñaúr Sixto²⁸²⁹,Gerard Amanda³³⁰,Gomez‐Puertas Paulino³¹,Guillen Sacoto Maria J.³²,Hoffman Trevor L.³³,Howard Lillian¹²,Iglesias Alejandro D.³⁴,Izumi Kosuke³⁵^ORCID,Larson Austin³⁶,Leiber Anja³⁷,Lozano Reymundo⁴,Marcos‐Alcalde Iñigo³¹³⁸,Mintz Cassie S.⁴,Mullegama Sureni V.³²,Møller Rikke S.³⁹⁴⁰,Odent Sylvie⁴¹,Oppermann Henry⁴²,Ostergaard Elsebet⁴³⁴⁴,Pacio‐Míguez Marta²⁸,Palomares‐Bralo Maria²⁸²⁹,Parikh Sumit⁴⁵,Paulson Anna M.¹²,Platzer Konrad⁴²,Posey Jennifer E.³^ORCID,Potocki Lorraine³³⁰,Revah‐Politi Anya⁴⁶⁴⁷,Rio Marlene⁴⁸,Ritter Alyssa L.³⁵,Robinson Scott⁷,Rosenfeld Jill A.³⁴⁹^ORCID,Santos‐Simarro Fernando²⁸²⁹,Sousa Sérgio B.¹⁰⁵⁰,Wéber Mathys²¹,Xie Yili³²,Chung Wendy K.⁷,Brown Natasha J.¹⁵¹,Tümer Zeynep²⁴⁴^ORCID,

Affiliation:

1. Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia

2. Department of Clinical Genetics Kennedy Center, Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark

3. Department of Molecular & Human Genetics Baylor College of Medicine Houston TX USA

4. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City New York USA

5. Department of Review Analysis GeneDx LLC Maryland USA

6. Rare Disease Institute, Children's National Hospital Washington District of Columbia USA

7. Department of Pediatrics Columbia University Irving Medical Center New York City New York USA

8. Division of Genetics Joe DiMaggio Children's Hospital Hollywood Florida USA

9. Department of Pediatrics University Hospital Hvidovre Hvidovre Denmark

10. Medical Genetics Unit Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

11. Division of Genetic Medicine Lausanne University Hospital and University of Lausanne (CHUV) Lausanne Switzerland

12. Stead Family Department of Pediatrics University of Iowa Iowa City Iowa USA

13. Department of Neurology and Developmental Medicine Kennedy Krieger Institute Baltimore Maryland USA

14. Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland USA

15. Departments of Neurology and Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA

16. Deptartment of Pediatrics Genetic Medicine, UCSF/Fresno Fresno California USA

17. Service de pédiatrie et de génétique clinique, CHU Rennes Rennes France

18. INSERM UMR1231 Equipe GAD, Université de Bourgogne Dijon France

19. Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU‐TRANSLAD, CHU Dijon Bourgogne Dijon France

20. Division of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston Texas USA

21. Centre de Référence Anomalies du Développement et Syndromes Malformatifs FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon Dijon France

22. Inserm UMR1231 GAD, Génétique des Anomalies du Développement Université de Bourgogne Dijon France

23. Internal Medicine & Pediatrics University of Iowa Carver College of Medicine Iowa City Iowa USA

24. Laboratoire de biologie médicale multisites Seqoia—FMG2025 Paris France

25. Service Génétique des Tumeurs, Gustave Roussy Villejuif France

26. Nemours Children's Hospital Orlando Florida USA

27. Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital Memphis Tennessee USA

28. Institute of Medical and Molecular Genetics (INGEMM) La Paz University Hospital Idipaz, Madrid Spain

29. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753) Instituto Carlos III Madrid Spain

30. Texas Children's Hospital Houston Texas USA

31. Molecular Modelling Group Severo Ochoa Molecular Biology Centre (CBMSO, CSIC‐UAM) Madrid Spain

32. Clinical Genomics Program GeneDx Maryland USA

33. Regional Department of Genetics Southern California Kaiser Permanente Medical Group Pasadena California USA

34. Division of Clinical Genetics Columbia University Irving Medical Center New York City New York USA

35. Divison of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

36. Section of Genetics, Department of Pediatrics University of Colorado School of Medicine Aurora Colorado USA

37. Department of Neuropediatrics Childrens Hospital of Eastern Switzerland St. Gallen St. Gallen Switzerland

38. Biosciences Research Institute, School of Experimental Sciences Universidad Francisco de Vitoria, Pozuelo de Alarcón Madrid Spain

39. Department of Epilepsy Genetics and Personalized Treatment The Danish Epilepsy Centre Dianalund Denmark

40. Department of Regional Health Research University of Southern Denmark Odense Denmark

41. CHU Rennes, Hôpital Sud, Service de Génétique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de référence Anomalies du développement CLAD‐Ouest, ERN ITHACA Rennes France

42. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

43. Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark

44. Department of Clinical Medicine Faculty of Health and Medical Sciences, University of Copenhagen Copenhagen Denmark

45. Mitochondrial Medicine & Neurogenetics, Cleveland Clinic Cleveland Ohio USA

46. Institute for Genomic Medicine Columbia University Medical Center New York City New York USA

47. Precision Genomics Laboratory Columbia University Irving Medical Center New York City New York USA

48. Service de Génétique, Hôpital Necker‐Enfants Malades Assistance Publique‐Hôpitaux de Paris (APHP) Paris France

49. Baylor Genetics Laboratories Houston Texas USA

50. University Clinic of Genetics, Faculty of Medicine, University of Coimbra Coimbra Portugal

51. Department of Paediatrics Royal Children's Hospital, University of Melbourne Melbourne Australia

Funder

European Social Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24308

Reference23 articles.

1. A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

2. CARD games in apoptosis and immunity

3. A cross‐disorder dosage sensitivity map of the human genome;Collins R. L.;MedRxiv,2021

4. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

5. Prevalence and architecture of de novo mutations in developmental disorders

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Integration of estimated regional gene expression with neuroimaging and clinical phenotypes at biobank scale;PLOS Biology;2024-09-13

2. QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by inhibiting GRP78;Cell Death & Disease;2024-09-04

3. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria;JAMA Neurology;2023-09-01

4. Cerebrospinal Fluid Protein Biomarker Discovery in CLN3;Journal of Proteome Research;2023-06-20

5. A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay;Molecular Genetics & Genomic Medicine;2023-06-18