Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Autor: Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Human Molecular Genetics Lab, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Focșa IO; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Cytogenomic Medical Laboratory, Bucharest, Romania., Budișteanu M; Psychiatry Research Laboratory, 'Prof. Dr. Alexandru Obregia' Clinical Hospital of Psychiatry, Bucharest, Romania.; Medical Genetic Laboratory, 'Victor Babeș' National Institute of Pathology, Bucharest, Romania.; Department of Medical Genetics, Faculty of Medicine, 'Titu Maiorescu' University, Bucharest, Romania., Stoica C; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Department of Pediatrics, Clinical Institute Fundeni, Bucharest, Romania., Nedelea F; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Genetics Department, Clinical Hospital Filantropia, Bucharest, Romania., Bohîlțea L; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania., Caba L; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania., Butnariu L; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania., Pânzaru M; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania., Rusu C; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania., Jurcă C; Department of Genetics, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.; Department of Pediatrics, 'Dr. Gavril Curteanu' Municipal Clinical Hospital, Oradea, Romania., Chirita-Emandi A; Emergency Hospital for Children Louis Turcanu, Regional Center of Medical Genetics Timis, Timisoara, Romania.; Victor Babes University of Medicine and Pharmacy Timisoara, Department of Microscopic Morphology Genetics, Center for Genomic Medicine, Timisoara, Romania., Bănescu C; 'George Emil Palade' University of Medicine, Pharmacy, Sciences and Technology, Târgu Mureş, Romania., Abbas W; Human Molecular Genetics Lab, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.; Duke Precision Medicine Program, Department of Medicine, Division of General Internal Medicine, Duke University Medical Center, Durham, NC, USA., Baig SM; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Department of Biological and Biomedical Sciences, Agha Khan University Karachi, Karachi, Pakistan., Bălgrădean M; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Department of Pediatrics and Pediatric Nephrology, Emergency Clinical Hospital for Children 'Maria Skłodowska Curie', Bucharest, Romania., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Sep; Vol. 191 (9), pp. 2376-2391. Date of Electronic Publication: 2023 Jun 09.

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