RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.,Brain

当前位置： X-MOL 学术 › Brain › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Brain ( IF 14.5 ) Pub Date : 2020-04-01 , DOI: 10.1093/brain/awaa070
Marcello Scala _{1,

2,

3} , Majid Mojarrad _{4,

5,

6} , Saima Riazuddin ₇ , Karlla W Brigatti ₈ , Zineb Ammous ₉ , Julie S Cohen ₁₀ , Heba Hosny ₁₁ , Muhammad A Usmani ₇ , Mohsin Shahzad ₁₂ , Sheikh Riazuddin _{12,

13} , Valentina Stanley ₁₄ , Atiye Eslahi _{4,

15} , Richard E Person ₁₆ , Hasnaa M Elbendary ₁₇ , Anne M Comi ₁₀ , Laura Poskitt ₈ , Vincenzo Salpietro _{1,

2,

3} , Queen Square Genomics ₁ , Jill A Rosenfeld ₁₈ , Katie B Williams ₁₉ , Dana Marafi ₁₈ , Fan Xia ₁₈ , Marta Biderman Waberski ₂₀ , Maha S Zaki ₁₇ , Joseph Gleeson ₁₄ , Erik Puffenberger ₈ , Henry Houlden ₁ , Reza Maroofian ₁

Affiliation

UCL Queen Square Institute of Neurology, University College London, London, UK.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Genetic Center of Khorasan Razavi, Mashhad, Iran.
Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Clinic for Special Children, Strasburg, PA, USA.
Community Health Clinic, Topeka, IN, USA.
Departments of Neurology and Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
National Institute of Neuromotor System, Cairo, Egypt.
Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
GeneDx, Gaithersburg, Maryland, USA.
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Pediatrics, University of Wisconsin Hospitals and Clinics, Madison, WI, USA.
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.