Emma Hobson
Chapel Allerton Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genetic Neurodegenerative Diseases, Genetic Syndromes and Imprinting
Most-Cited Works
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
- → Harlequin Ichthyosis(2011)196 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance(2008)137 cited
- → 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH(2007)126 cited
- → Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome(2012)112 cited
- → Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism(2017)111 cited
- → De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations(2016)108 cited
- → Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum(2016)74 cited