Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B. Thomas(University of Manchester), William G. Newman(Manchester Metropolitan University), Ilka Wittig(Goethe University Frankfurt), Hanifenur Mancılar(Acıbadem Adana Hospital), Christopher J. Carroll(St George's, University of London), Fatma Nisa Esen(Acıbadem Adana Hospital), Deniz Kör(Cukurova University), Kyle Thompson(Wellcome Centre for Mitochondrial Research), Thomas B. Smith(St Mary's Hospital), Vehap Topçu(Intergen (Turkey)), Ahmet Yeşilyurt(Acıbadem University), Thashi Bharadwaj(Columbia University Irving Medical Center), Isabelle Schrauwen, Eyyüp Üçtepe(Acıbadem Adana Hospital), Monika Oláhová(University of Helsinki), Namanpreet Kaur(Manipal Academy of Higher Education), Erum Afzal(National Institute of Child Health), Zubair M. Ahmed(University of Maryland, Baltimore), Raymond T. O’Keefe(University of Manchester), Leigh Demain(St Mary's Hospital), Janine Smith(Children's Hospital at Westmead), Kevin J. Munro(University of Manchester), Peter Jamieson(Manchester University NHS Foundation Trust), Alfredo Cabrera‐Orefice(Goethe University Frankfurt), Fatma Derya Bulut(Cukurova University), Zornitza Stark(Zoos Victoria), Giovanni Zifarelli(Centogene (Germany)), Musaad Abukhalid(King Faisal Specialist Hospital & Research Centre), Hanan E. Shamseldin(King Faisal Specialist Hospital & Research Centre), Peter Bauer(Bioinova (Czechia)), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Muhammad Ansar(Quaid-i-Azam University), Suzanne M. Leal(Indiana University School of Medicine), Sakina Rehman(University of Maryland, Baltimore), Alessandro Rea(University of Manchester), Anju Shukla(Manipal Academy of Higher Education), Mehri Salari(Shahid Beheshti University of Medical Sciences), Samantha Carrera(University of Manchester), Robert W. Taylor(Newcastle upon Tyne Hospitals NHS Foundation Trust), Langping He(Wellcome Centre for Mitochondrial Research), Saima Riazuddin(University of Maryland, Baltimore), Sait Tümer(Acıbadem Adana Hospital), Firdous Abdulwahab(King Faisal Specialist Hospital & Research Centre), Wyatt W. Yue(Energy Biosciences Institute)
Cited by 7
Related Papers
A second generation human haplotype map of over 3.1 million SNPs
|Nature|2007|4.6k
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Single-nucleotide polymorphism in the human mu opioid receptor gene alters β-endorphin binding and activity: Possible implications for opiate addiction
|Proceedings of the National Academy of Sciences|1998|1.1k
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
|npj Genomic Medicine|2018|637
Osteopetrosis
|Orphanet Journal of Rare Diseases|2009|454