High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö(Karolinska University Hospital), Giedré Grigelioniené(Karolinska University Hospital), Hironobu Hyodo(Tokyo Metropolitan Bokutoh Hospital), Naoko Ohashi-Fukuda(Tokyo Metropolitan Bokutoh Hospital), Angela E. Lin(Massachusetts General Hospital), Liene Korņejeva(Children's Clinical University Hospital), David Chitayat(Mount Sinai Hospital), Fulya Taylan(Karolinska University Hospital), Peter Conner(Karolinska University Hospital), Eva Horemuzova(Karolinska Institutet), Hirofumi Ohashi(Aichi Medical University), Henrik Stranneheim(Karolinska University Hospital), Jesper Eisfeldt(Karolinska University Hospital), Katta M. Girisha(Manipal Academy of Higher Education), Marco Bartocci(Karolinska Institutet), Brian Hon‐Yin Chung(Long Island Jewish Medical Center), Atsuhiko Handa(University of Iowa Hospitals and Clinics), Gen Nishimura(Musashino University), Måns Magnusson(Karolinska University Hospital), Daniel Nilsson(Karolinska University Hospital), Dominyka Batkovskyte(Karolinska Institutet), Ulrika Voss(Karolinska University Hospital), Shahida Moosa(Stellenbosch University), Maria Pettersson(Karolinska University Hospital), Kristina Lagerstedt‐Robinson(Karolinska University Hospital), Shalini S. Nayak(Manipal Academy of Higher Education), Ann Nordgren(Karolinska University Hospital), Rasa Traberg(Lithuanian University of Health Sciences), Anna Lindstrand(Karolinska University Hospital), Valtteri Wirta(Karolinska University Hospital), Donald Basel(Medical College of Wisconsin), Britt-Marie Anderlid(Karolinska University Hospital), Ana Beleza‐Meireles(King's College London)
Cited by 34
Related Papers
The Genome Sequence of <i>Trypanosoma cruzi</i> , Etiologic Agent of Chagas Disease
|Science|2005|1.4k
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
|European Journal of Endocrinology|2017|1.1k
Comparative Genomics of Trypanosomatid Parasitic Protozoa
|Science|2005|833
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717