Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
Louise E Docherty(Southampton General Hospital), Deborah Mackay(University of Copenhagen), Emma Kivuva(Royal Devon and Exeter Hospital), I. Karen Temple(University of Southampton), Lukas Soellner(RWTH Aachen University), Michał Patalan(Pomeranian Medical University), Sarah Smithson(St Michael's Hospital), Thomas Eggermann(RWTH Aachen University), Matthias Begemann(RWTH Aachen University), Sahar Mansour(Princess Nourah bint Abdulrahman University), Julian Hamilton‐Shield(University of Bristol), Faisal I. Rezwan(University of Cambridge), Claire Turner(Royal Devon and Exeter Hospital), Bernhard Horsthemke(University of Duisburg-Essen), Eamonn R. Maher(Aston University), Jarosław Peregud‐Pogorzelski(Pomeranian Medical University), Rebecca Poole(Fisheries and Oceans Canada), Jasmin Beygo(University of Duisburg-Essen), Maria Giżewska(Pomeranian Medical University), Emma L. Baple(University of Exeter), Karin Buiting(Essen University Hospital)
Cited by 204
Related Papers
Association of a human G-protein β3 subunit variant with hypertension
|Nature Genetics|1998|731
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
|Nature Genetics|2008|591
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
|Nature Genetics|2019|590