The genomic landscape of rare disorders in the Middle East.

Autor: El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alsarhan A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Nugud A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Sarfraz F; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Janbaz H; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Rabea F; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Wafadari D; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Al Maazmi M; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Rizk R; Adolescent Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alloub Z; Neurodevelopment Section, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Elbashir H; Neuroscience Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Babiker MOE; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Chencheri N; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlBanna A; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Sultan M; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., El Bitar M; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Kherani S; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Thalange N; Endocrinology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alshryda S; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Di Donato R; Cardiology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tzivinikos C; Gastroenterology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Majid I; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Freeman AF; National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA., Gonzalez C; Immune Deficiency Cellular Therapy Program, National Cancer Institute, NIH, Bethesda, MD, USA., Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Hamdan H; Pulmonology and Sleep Medicine Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlAwadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., AlKhayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates., Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.

Publikováno v: Genome medicine [Genome Med] 2023 Jan 27; Vol. 15 (1), pp. 5. Date of Electronic Publication: 2023 Jan 27.

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Autor: Abuhammour W; Al Jalila Children's Hospital, Dubai, United Arab Emirates., Yavuz L; Al Jalila Children's Hospital, Dubai, United Arab Emirates., Jain R; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Abu Hammour K; Department of Biopharmaceutics and Clinical Pharmacy, The University of Jordan, Amman, Jordan., Al-Hammouri GF; Department of Pediatrics, Specialty Hospital, Amman, Jordan., El Naofal M; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Halabi N; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Yaslam S; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Ramaswamy S; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Taylor A; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Wafadari D; Al Jalila Children's Hospital, Dubai, United Arab Emirates., Alsarhan A; Al Jalila Children's Hospital, Dubai, United Arab Emirates., Khansaheb H; Medical Education and Research Department, Dubai Health Authority, Dubai, United Arab Emirates., Deesi ZO; Microbiology and Infection Control Unit, Pathology and Genetics Department, Latifa Hospital for Women and Children, Dubai, United Arab Emirates., Varghese RM; Virology Laboratory, Microbiology and Infection Control Unit, Latifa Hospital for Women and Children, Dubai, United Arab Emirates., Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Al Suwaidi H; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Al-Hammadi S; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Alkhaja A; Medical Education and Research Department, Dubai Health Authority, Dubai, United Arab Emirates., AlDabal LM; Medical Affairs Department, Rashid Hospital, Dubai Health Authority, Dubai, United Arab Emirates., Loney T; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Nowotny N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Institute of Virology, University of Veterinary Medicine Vienna, Vienna, Austria., Al Khayat A; Al Jalila Children's Hospital, Dubai, United Arab Emirates., Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates., Abou Tayoun A; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.

Publikováno v: JAMA network open [JAMA Netw Open] 2022 May 02; Vol. 5 (5), pp. e2214985. Date of Electronic Publication: 2022 May 02.

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Autor: Gupta, Vijay¹ (AUTHOR) vgupta@hbku.edu.qa, Ben-Mahmoud, Afif¹ (AUTHOR) abenmahmoud@hbku.edu.qa, Idris, Ahmed B.² (AUTHOR) ahmed30411@gmail.com, Hottenga, Jouke-Jan^1,3 (AUTHOR) jjhottenga@gmail.com, Habbab, Wesal¹ (AUTHOR) whabbab@hbku.edu.qa, Alsayegh, Abeer⁴ (AUTHOR) abeer.alsayegh@gmail.com, Kim, Hyung-Goo^1,5 (AUTHOR) hk1047@rwjms.rutgers.edu, AL-Mamari, Watfa² (AUTHOR) watfa.almamari@gmail.com, Stanton, Lawrence W.^1,6 (AUTHOR) watfa.almamari@gmail.com

Publikováno v: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 24, p13700. 24p.

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.

Autor: German, Ryan J.^1,2 (AUTHOR), Vuocolo, Blake^1,2 (AUTHOR), Vossaert, Liesbeth^1,3 (AUTHOR), Owen, Nichole^1,3 (AUTHOR), Lewis, Richard A.^1,4,5 (AUTHOR), Saba, Lisa⁶ (AUTHOR), Wangler, Michael F.^1,2,7 (AUTHOR) michael.wangler@bcm.edu, Nagamani, Sandesh^1,4,7 (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-9. 9p.

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.

Autor: Lumaka, Aimé^1,2 (AUTHOR) aime.lumaka@chuliege.be, Fasquelle, Corinne² (AUTHOR), Debray, Francois-Guillaume² (AUTHOR), Alkan, Serpil^2,3 (AUTHOR), Jacquinet, Adeline² (AUTHOR), Harvengt, Julie² (AUTHOR), Boemer, François² (AUTHOR), Mulder, André⁴ (AUTHOR), Vaessen, Sandrine³ (AUTHOR), Viellevoye, Renaud⁵ (AUTHOR), Palmeira, Leonor² (AUTHOR), Charloteaux, Benoit² (AUTHOR), Brysse, Anne² (AUTHOR), Bulk, Saskia² (AUTHOR), Rigo, Vincent⁵ (AUTHOR), Bours, Vincent^1,2 (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Feb2023, Vol. 24 Issue 4, p4003. 16p.