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Author Details

Eleina England
2014
30
12
PMIDPaper TitleJournal TitlePublished Year
37179546Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.2023
37633279Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.Am J Hum Genet2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
36945502Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv2023
35077597Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.Hum Mutat2022
36228617Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.Dev Cell2022
35642566Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.American Journal of Medical Genetics, Part A2022
34321323O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.J Med Genet2022
35294868Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.Cell Rep2022
34400773Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.Journal of Human Genetics2022
35266241seqr: A web-based analysis and collaboration tool for rare disease genomics.Hum Mutat2022
34906470The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).Genetics in Medicine2022
35179230PIGN encephalopathy: Characterizing the epileptology.Epilepsia2022
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33861953A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33473207Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.Genet Med2021
34113008Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.Genet Med2021
33894126Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.Am J Hum Genet2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
34087166A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33649541Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.Eur J Hum Genet2021
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
33037779Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.Am J Med Genet A2021
32461654The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2020
32331917Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.Neuromuscul Disord2020
31361404Phenotype delineation of ZNF462 related syndrome.Am J Med Genet A2019
31397880MAGEL2-related disorders: A study and case series.Clinical Genetics2019
26276630Clinical Sequencing Uncovers Origins and Evolution of Lassa Virus.Cell2015
25403361Enhanced methods for unbiased deep sequencing of Lassa and Ebola RNA viruses from clinical and biological samples.Genome Biol2014
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