Browsing by Author Firth, Helen

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Issue DateTitleAuthor(s)Citation
2017Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomasBenn, Diana; Clifton-Bligh, Roderick; Dwight, Trisha; Bayley, Jean-Pierre; Burnichon, Nelly; Cascon, Alberto; Ercolino, Tonino; et al, Various; Firth, Helen; Mannelli, Massimo; Toledo, Rodrigo A.; Tops, Carli M.; Welander, Jenny; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: NCS OfficeConsensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas, Nature Reviews Endocrinology, vol.13, 4, 2017,pp 233-247
2012Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValCharlton, Amanda; Wilson, Meredith; Bradley, Lisa; Burkitt Wright, Emma; D'Amore, Angela; Firth, Helen; Gannon, Caroline; Kerr, Bronwyn; McConnell, Vivienne; Munyard, Paul; Park, Soo-Mi; Shorto, Jennifer; Turnpenny, P. D.; Plant Breeding Institute; Children's Hospital Westmead: Paediatrics & Child HealthNeonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val, American Journal of Medical Genetics. Part A, vol.158A, 5, 2012,pp 1102-1110
2014De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual DisabilityWilson, Meredith; Archer, Hayley; Canham, Natalie; Carss, Keren J; et al, Various; Firth, Helen; Grozeva, Detelina; Hackett, Anna; Holder, Susan; Park, Soo-Mi; Parker, Michael; Spasic-Boskovic, Olivera; Childrens Hospital Westmead: Paediatrics & Child HealthDe Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability, American Journal of Human Genetics, vol.94, 4, 2014,pp 618-624